Oral mucosa reflects the health of the whole human body at a first glance.If any disorder is present in the system it will first appear in oral cavity. Here is an overview of certain pigmented lesions.

2. CONTENTS
 Introduction
 Classification
 Endogenous
 Exogenous
 References
 Conclusion

3. INTRODUCTION
 The word pigment is derived from latin
word meaning “colour or colouring”
Normal skin pigmentation is influenced by:
 Degree of vascularity
 Amount & location of melanin
 Presence of carotene
 Thickness of the horny layer

5. Overproduction Over
population
Sun Benign nevi, malignant
exposure,drugs,hormones melanoma

6. PIGMENTED LESIONS
Diffuse & bilateral Focal
Adult onset Red-blue-purple Blue-grey Brown
Systemic No Blanching
systemic
•Addisons •Amalgam •Melanotic
•Varix
• Drug
disease •Hemagioma Tattoo macule
•Heavy induced •Foreign •Pigmented
• Post infl Non Body tattoo nevus
metal
•Kaposis ammatory •blanching •Blue nevus •Melanoma
• Smokers •Melano
sarcoma •
melanosis Thrombus acanthoma
•Hematoma
Adel Kauzman, Marisa Pavone, Nick Blanas. Pigmented Lesions of the Oral Cavity: Review, Differential
Diagnosis, and Case Presentations. Journal of the Canadian Dental Association.
November 2004, Vol. 70, No. 10

7. PIGMENTED LESIONS
ENDOGENOUS
Hemoglobin
Varix, hemangioma, Kaposi sarcoma,
Circulating erythrocytes
coursing through patent vessels. angiosarcoma, hereditary
hemorrhagic telangiectasia
•consequence of blood
Hemosiderin
extravasation- trauma or a defect
Ecchymosis, Petechia, Thrombosed
•generalized hemosiderin tissue Varix, Hemorrhagic Mucocele,
deposition-Hemochromatosis Hemochromatosis
PIGMENTED
Melanotic Macule, Nevus,
Melanoma, Basilar Melanosis With
Incontinence

8. Exogenous Pigmentation of Oral Mucosa
Source Color Disease Process
Silver amalgam Gray, black Tattoo,iatrogenic
trauma
Graphite Gray, black Tattoo, trauma
Lead, mercury, Gray Ingestion of paint
bismuth or medicinals
Chromogenic Black, brown, Superficial
bacteria green colonization

9. HEMANGIOMA
 Childhood-hamartoma; adult-varicosity
 Etiology : congenital & traumatic
 colour-depth of vascular proliferation
 Tongue (intrinsic muscles), lip, buccal mucosa & palate
(
 Raised, nodular
 Benign vascular hamartomas-range from- flat reddish
blue macule to a nodular blue tumefaction
 Congenital- strawberry nevus

10.  Port wine stain involves facial skin is flat &magenta I
colour.
 Skull radiograph: vessel wall calcification yield
bilamellar radiopaque tracks
“Tram line calcification”
 Bubbly or honeycomb trabeculated appearance
 Overlying cortex is expanded and thinned, but
complete cortical disruption and invasion into soft
tissue are not present
 Diascopy
 Intraluminal clots form- palpable and do not blanch

11. Sunburst
appearance

12.  Calcified nodules/phleboliths- radiographically
evident
 85% of childhood-onset hemangiomas
spontaneously regress after puberty
 Conventional surgery, laser surgery, cryosurgery
 Sclerosing agents - 1% sodium tetradecyl sulfate
(intralesional injection)- .05 to 0.15 ml/cm3
 Cutaneous port-wine stains - subcutaneous
tattooing or by argon laser

13. Differential diagnosis:
 Mucocele & Ranula: soft &fluctuant
 Aneurysm: pulse are detected

14. Histopathology
 Cavernous -large dilated vascular channels lined
by endothelial cells without a muscular coat
 Cellular/capillary-endothelial proliferation,
vascular lumina are very small
 Intramuscular –deep lesions

15. Sturge Weber syndrome
 Encephalotrigeminal angiomatosis
 Port wine stain (nevus flammeus) –
leptomeninges of cerebral cortex
 Mental retardation, hemiparesis, seizures
 Ocular lesions
 Calcification
 d/d- angioosteohypertrophy syndrome
Port wine stain + varices + hypertrophy of bone

17. Hemangioma Vascular
malformation
Description Ab endothelial cell Ab blood vessel
proliferation development
Elements Inc no of capillaries Mix of artery, vein,
capillaries (AV shunt)
Growth Rapid congenital, Grows throughout
ceases puberty
Boundaries Circumscribed;rarely Poorly circumscribed
affects bone
Thrill & bruit absent present
Involution Spontaneous Does not involute
Resection Easy Difficult, surgical
haemorrhage
Recurrence Uncommon Common

18. Blue rubber bleb nevus
syndrome
 Bean’s syndrome
 Multiple small & large cavernous hemagioma
 Skin & GI tract + mouth
 Childhood/young adulthood
 Life threatening-blood loss->anemia & Fe
deficiency

19. Varix
 Pathologic dilatations of veins or venules are
varices or varicosities
 Site- ventral tongue- tortuous ,serpentine
blue, red, and purple elevations
 Progressively prominent with age
 degenerative change in the adventitia of the
venous wall-painless & non haemorrhagic
 interfere with mastication

20.  focal dilatation-varix
 Elders, lower lip, raised
 Blue/red/ purple; surface mucosa -lobulated
or nodular
 Diff diagnosis-hemangioma
-age
-etiology- lip or cheek biting
-growth potential
-same histology-thrombi-organization &
canalization
 Same t/t

21. ANGIOSARCOMA
 Malignant vascular neoplasm.
 Arise anywhere in body
 Colour: red ,blue or purple .
 Rapidly proliferative present as nodular tumor.
 can arise from blood or lymph vessel endothelial
cells / pericytic cells of vasculature.
 Treated by radical excision

22. KAPOSI SARCOMA
 Tumor of putative vascular origin
 HHV-8
 2 forms-elderly men ( oral mucosa & skin of
lower extremities) , (2) children in equatorial
africa ( lymph nodes)-aggressive & lethal
 Slow progressive, less metastasis
 Oral tumors - red, blue, and purple-hard

23. KAPOSI SARCOMA + HIV
 Oral lesions - posterior hard palate
 Begin as flat red macules of variable size and
irregular configuration
 Numerous isolated and coalescing plaques
 Eventually- increase in size ->nodular
growths- entire palate, protruding below the
plane of occlusion
 Facial gingiva

24.  D/d-pyogenic granuloma, giant cell granuloma
Bacillary angiomatosis-bartonella henselae-rare in
oral mucosa
 Early stage-no t/t; later-electrocautery/excision
 Intralesional 1% vinblastine sulfate-less post
injection pain-multiple biweekly injections
 Proliferating spindle cells with mild pleomorphism
+ plump endothelial cells
 extravasation of erythrocytes + hemosidren
granules

25. HEREDITARY HEMORRHAGIC
TELANGIECTASIA/Rendu-Osler-Weber
syndrome
 Multiple round or oval purple papules
measuring less than in 0.5cm in diameter.
 Genetically transmitted disease
 Site: vermilion &mucosal surfaces of lips as
well as on the tongue &buccal mucosa.
 multiple microaneurysms, owing to a
weakening defect in the adventitial coat of

26.  Same lesion in nasal mucosa-epistaxis
 differential diagnosis-petechial hemorrhages
(platelet disorder)-macular, red/blue, not
genetic
 CREST syndrome
 Selective embolization
 electrocautery
(series of procedures)
using local anesthesia

27. Ephelis
 Increase in melanin pigment synthesis by basal-layer
melanocytes, without an increase in the number of
melanocytes
 Freckle
 Vermilion border of lips ( lower lip). Lesion is
macular ranging from small to few cms
 Solar exposure
 M=f
 Adults, asymptomatic

28. Oral Melanotic Macule
 Intraoral counterpart
 Oval or irregular outline,
 Brown or black, gingiva, palate, buccal mucosa.
 Once they reach a certain size, they do not tend
to enlarge further
 Differential diagnosis - nevus, early superficial
spreading melanoma, amalgam tattoo, and

29.  Biopsy
 melanin-containing dendritic cells are seen to
extend high into a thickened spinous layer.
melanoacanthoma
 Surgery –no predisposition to melanoma
 Myxoma syndrome-soft tissue myxoma +
endocrinopathy
 Laugier –Hunziker syndrome/phenomenon-
acquired disorder + lips,oral, finger+
subungual melanocytic streaks

30. Nevocellular Nevus/nevomelanocytic
nevus/pigmented nevus
 Benign proliferations of melanocytes
Nevus cells - localized to basal layer- junction
of epithelium and basement membrane+
connective tissue
Minimal proliferation
Macular, flat and brown, regular outline
Junctional nevi

31. Melanocytes form clusters at the epitheliomesenchymal
junction
proliferate down into the connective tissue
Dome shaped appearance
Compound nevi
Lose their continuity with surface epithelium+
cells become localized - deeper connective tissues
Intradermal nevi (skin)
Intramucosal (mouth)

32. INTRADERMAL JUNCTIONAL
NEVI NEVI
COMPOUND NEVI

33. Blue nevus
 Melanocytic cells reside deep in the connective tissue
and because the overlying vessels dampen the brown
coloration of melanin, yielding a blue tint
 More spindle shaped + more pigment
 Macular or nodular; brown intraorally
 Palate, gingiva, buccal mucosa & lips

34. Malignant Melanoma
 Sun exposure->malar region
 Facial cutaneous melanomas –macular/ nodular
 Brown -black -blue, with zones of
depigmentation.
 Jagged irregular margins-nevi(smooth outline)
 Elder, M>F

35. “Lentigo maligna melanoma” or “hutchinson’s
freckle”
Facial skin lesions – atypical melanocytic
hyperplasia /melanoma in situ.
Melanocytic tumor cells spread laterally and
superficially
Radial growth phase
Good prognosis
Nodular-deeper invasion-vertical growth-poor

36.  Breslow method, by which millimeter depths
of invasion are measured (depth correlating
with prognosis
 Oral mucosa -anterior labial gingiva, ant.
Hard palate.
 They may be focal or diffuse and mosaic

37. Staging
 Stage 1-primary tumor only
 Level 1- melanoma in situ without evidence of
invasion/microinvasion +nt
 Level 2-invasion upto lamina propria
 Level 3- deep skeletal tissue-muscles
 Stage 2- metastatic to regional lymph node
 Stage 3- distant node metastasis
Gondivkar et al. Primary malignant melanoma-case
report & review of literature.quitesscence int vol 7; jan
2009

38.  Excision with wide margins
 CT & MRI-Rule our metastases-
submandibular & cervical nodes
 Immunosuppressive drugs

39. Drug induced Melanosis
 Quinoline, hydroxy quinoline,amodiaquine
minocycline
 Site :hard palate (large &localized) or multifocal,
throughout the mouth.
 Oral contraceptives &pregnancy are associated
with hyperpigmentation of facial skin-
periorbital &perioral region -melasma or
chloasma.
 Flat lesions, nail bed & skin

40. Physiological
pigmentation
 Asian ,black people, dark skinned Caucasians
 diffuse melanosis of facial gingiva
 lingual gingiva& tongue may exhibit multiple,
diffuse & reticulated brown macule
 basilar melanosis, evolves in childhood
 Multifocal or diffuse pigmentation of recent
onset – investigated-endocrinopathic
disease.

41.  Symmetric distribution
 No gender predliction, any age
 Does not alter normal architecture
 Degree of intraoral pigmentation –may not
correspond cutaneous coloration
 No change in intensity

42. Café au Lait Pigmentation
 Color of coffee with cream
 Small ephelis-like macules to broad diffuse
 Late childhood and multiple
 Neurofibromatosis- nodular and diffuse
pendulous neurofibromas - skin and (rarely) in
the oral cavity
 Basilar melanosis without melanocyte
proliferation
 McCune Albright syndrome

43. Smoker’s Melanosis
 Ant labial gingiva, Buccal mucosa, lateral tongue,
palate, floor of mouth
 No cause-and-effect relationship
 Melanogenesis is stimulated by tobacco smoke
products

44.  Brown, flat, and irregular, geographic or
maplike
 basilar melanosis with melanin incontinence
 No premalignant potential
 Cosmetics

45. Pigmented Lichen Planus
 Erosive lichen planus + diffuse melanosis
 Increased production of melanin by the
melanocytes
 Accumulation of melanin laden macrophages
in the superficial connective tissue

46. Endrocrinopathic Pigmentation
Addison’s disease
Granulomatous infection of cortex/ autoimmune cortical
destruction
Adrenocortical insufficiency
Steroid hormones decrease
Feedback loop stimulated
Excess secretion of ACTH
Hypotension and hypoglycemia,stimulation of MSH

47. ADDISON’S DISEASE

49.  Skin may appear tanned- bronzing of the skin
and patchy melanosis
 Gingiva, palate, and buccal mucosa – blotchy
 Increased hormone-dependent
melanogenesis-> accumulation of melanin
granules
 Serum steroid & hormone investigation
 Disappear-therapy for endocrine disease

50. HIV oral Melanosis
 Hyper pigmentation of skin ,nails &mucous
membrane.
 Buccal mucosa is frequently affected site
gingiva,palate,tongue may also be involved.
 Etiology remains undetermined
 Diffuse multifocal macular brown
pigmentations

51. Peutz-Jeghers Syndrome
 hereditary intestinal polyposis syndrome
 Benign hamartomatous polyps in the
gastrointestinal tract
 hyperpigmented macules on the lips and oral
mucosa
 Rectal bleeding, abdominal pain

52. BROWN HEME-ASSOCIATED LESIONS
 Ecchymosis- large size-Traumatic-lips & face,
uncommon buccal mucosa
Traumatic event(fellatio,cheek bite,prostho app)
Erythrocyte extravasation into the submucosa
Bright red macule /swelling if a hematoma forms
brown coloration within a few days
Hemoglobin is degraded to hemosiderin

53.  Retrauma- observed for 2 weeks-resolution
 Hemorrhagic diathesis-ecchymosis as d/d
 Anticoagulant drugs -cheek or tongue
 Hereditary coagulopathic disorders & chronic
liver failure-prothrombin time and partial
thromboplastin time, clotting time-
prolonged

54. Petechia
 Pinpoint hemorrhage less than 2cm
 Autoimmune or idiopathic thrombocytopenic
purpura (ITP), disorders of platelet aggregation,
aspirin toxicity and myelosuppressive
chemotherapy

55.  Oral –soft palate (10-30)-suction
 Does not blanch on compression
 Excessive suction of soft palate against the
posterior tongue -self inflicted -pruritic palate
at the
onset of a viral or an allergic pharyngitis
 “click” their palate
 t/t-stop activity-regression in 2 weeks
 Platelet studies

56. Hemochromatosis
 bronze diabetes. tetrad of liver cirrhosis
 Male predliction

57.  tissue – iron - Prussian blue-elevated serum
level
 Medical referral

58. Amalgam Tattoo
 solitary or focal pigmentation
 macular
 bluish gray - even black
 buccal mucosa, gingiva, or palate
 vicinity of teeth- large amalgam restorations
 Accidental impregnation-metal flecks-
mucosa
 extraction sockets- healing phase- connective
tissue while re-epithelialization

59.  Radiographs
 fine brown granular stippling of reticulum
fibers, particularly around vessel walls
 giant cell reaction-uncommon, infiltrate +nt
 No t/t required, biopsy when distant to tooth

60. Graphite Tattoo
 Palate
 Traumatic implantation from a lead pencil,
school children
 Macular, focal, and gray or black

61. Hairy Tongue
 Unknown etiology
 dorsum ,particular middle &posterior one
third.
 papillae are elongated- appearance of
hairs
 hyperplastic papillae (filiform) become
pigmented by colonization of
chromogenic bacteria-brown to green
colour to black

62.  tea &coffee-diffuse discolouration
 t/t- brush the tongue and avoid tea and coffee
for a few weeks
 Recurrence + nt

63. Pigmented Neuroectodermal
tumor of infancy
 Benign neoplasm-neural crest cells
 Infants younger than 6 months
 Maxilla > mandible> skull
 Non ulcerated, dark pigmented mass
 Ill defined radiolucency with developing teeth
 Less metastasis

64. Heavy-Metal Ingestion
 Occupational hazard
 Ingested pigments tend to extravasate from
vessels in foci of increased capillary permeability
such as inflamed tissues.
 Free marginal gingiva-gingival cuff, resembling
eyeliner-gray-black app
 Behavioral changes, neurologic disorders, and

65. Plumbism
 Lead poisoning-paints,glazes,cooking
vessels,batteries,exhaust of automobile
 Oral manifestation: metallic taste, excessive
salivation,dysphagia.Burtonian line is seen when
exposure to lead is high &oral hygiene is poor at
gingival margin.
 chelating agent such as edta or penicillamine.

66. Mercurialism
 Pink disease, swift disease,acrodynia.
 Acute or chronic
 increase in saliva, itching sensation, metallic
taste, salivary glands & lymph nodes are
swollen. Tongue is enlarged
,painful,ulcerated

67.  Color: diffuse grayish pigmentation of
alveolar mucosa, gums are deeper hue than
normal, teeth may exfoliate due to marked
periostitis.
 Management: bed rest ,atropine to lessen
saliva flow.
 Administration of BAL (British anti-lewisite)&
dimercaprol

68. Argyria
 Exposure to silver compound
 Cause: local &systemic absorption of silver
compound.
 Oral manifestation: Diffusely distributed
through out gingival &mucosal tissue.
 Management: source of contact be
eliminated.

69.  Gold- Chrysiasis may be induced by
parenteral administration of gold salts,
usually for the treatment of rheumatoid
arthritis

70. Nevus of Ota
 Congenital melanosis bulbi
 Blue hyperpigmentation of face
 Involves 1 & 2 branches of trigeminal nerve
 Melanocytes trapped in upper 1/3 of dermis

88. Melanin
= primary pigment producing brown coloration
 Tyrosine – tyrosinase –melanin- this occurs in the
melanosomes of melanocytes
 Then the melanosomes are transferred from the
melanocyte to a group of keratinocytes called
the epidermal melanin unit
 Variations in skin color is related to the number
of melanosomes, the degree of melanization,
and the distribution of the epidermal melanin
unit

89. Pigmentary Demarcation
Lines
 Can be divided into five categories:
 Group A- lines along the outer upper arms with
variable extension across the chest
 Group B-lines along the posteromedial aspect of
the lower limb
 Group C-Paired median or paramedian lines on
the chest, with midline abdominal extension
 Group D-medial, over the spine
 Group E-bilaterally symmetrical, obliquely
oriented, hypopigmented macules on the chest

90. Pigmentary Demarcation
Lines
 More than 70% of blacks have one or more
lines
 These are much less common in whites
 Type B lines often appear for the first time
during pregnancy

91. Normal Pigmentation
 Normal skin pigmentation is influenced by:
-the degree of vascularity
-the amount & location of melanin
-the presence of carotene
-the thickness of the horny layer

92. Melanin Production
 The amount produced is dependent on:
-genetics
-the amount and the wavelengths of ultraviolet
light received
-the amount of melanocyte-stimulating
hormone(MSH) secreted
- the effect of melanoccytestimulatingg chemicals
like furocoumarins (psoralens)

93. Hemosiderin
Hyperpigmnetation
 Pigmentation due to deposits of hemosiderin
occurs in:
-purpura
-hemochromatosis
-hemorrhagic diseases
-stasis ulcers
** difficult to distinguish from postinflammatory
dermal melanosis clinically

94. Postinflammatory
Hyperpigmentation
 Any inflammatory condition can cause either
hypopigmentation or hyperpigmentation
 Also may be a complication of chemical peels,
dermabrasion, laser therapy, or liposuction
 Histologically, there is melanin in the upper
dermis and around upper dermal vessels, located
primarily in macrophages (melanophages)

95. Postinflammatory
hyperpigmenation
 Postinflammatory
hyperpigmentation
following resolution
of lymphocytoma
cutis on the cheek of
a black child

96. Industrial
Hyperpigmentation
 Occurs in coal miners, anthracene workers,
pitch workers, etc
 Pigmentation of the face may occur from the
incorporation in cosmetics of derivatives of
coal tar, petrolatum, or picric acid, mercury,
lead, bismuth, or furocoumarins (psoralens)

97. Systemic Diseases
 Syphilis, malaria, pellagra, and diabetes
 Addison’s disease- diffuse melanosis pronounced
in the axillae and palmar creases, and nipples
and genitals, and buccal mucosa
 Diabetes produces diffuse bronzing of the skin
 ** patients with virilizing adrenal tumors usually
develop hyperpigmentation and hypertrichosis

98. Systemic Diseases
 Nelson’s syndrome (a  Vitamin B12 deficiency
pituitary MSH-producing
tumor)  Kwashiorkor
 Pheochromocytoma  Vitamin A deficiency
 Hemochromatosis  Primary biliary cirrhosis
 Amyloidosis (triad=
 Scurvy
hyperpigmentation,
 Pregnancy
pruritis, xanthomas)
 Menopause
 Porphyria cutanea tarda

99. Hemochromatosis
Characterized by: Usually are present:
 Gray-brown  Cirrhoisis
mucocutaneous  Hypogonadism
hyperpigmentation  Liver cirrhosis
 Diabetes mellitus
 hepatomegaly

100. Hemochromatosis
 Skin pigmentaion is  The actual pigmentation
usually generalized is caused by increased
 But, more pronounced basal-layer melanin
on face, extensor aspect  Mucous memebranes are
of the forearms, backs of pigmented in up to 20%
the hands, and the of patients
geniocrural area  Koilonychia is present in
 Iron is deposited in the 50%
skin  Localized ichthyosis in
 Iron is present as 40%
granules around blood  Alopecia is common
vessels and sweat glands
and within macrophages

101.  Dx:
 Elevated plasma iron and
 Occurs mostly in men in
IBP
their sixties
 High serum ferritin
 Women who have without an obvious cause
genetic should prompt
hemochromatosis can investigation for both
have full phenotypic hemochromatosis and
expression PCT
 Extremely rare in the  Etiology is either an
young inborn error of
 Neonatal metabolism or excessive
hemochromatosis has number of blood
been associated with transfusions
intrauterine infections ie  AR gene for heredity
cytomegalovirus hemochromatosis is
 Adults with linked to the HLA-A locus
hemochromatosis are on chromosome 6p
susceptible to Yersinia

102. Hemochromatosis-tx
 Phlebotomy until
satisfactory iron levels are
found
 Extracorporeal chelation
has also been used
successfully
 Associated DM requires
medical tx
 Long-term complications
are cirrhosis and then
hepatomas

103. Melasma
 Brown patches, sharply  Tends to affect the darker-
demarcated, typically on complected
the malar prominences and  It may also be found on the
forehead forearms
 The three clinical patterns  Occurs at pregnancy and at
are: centrofacial, malar, menopause
mandibular  It may also be seen in
 Increased pigment may ovarian disorders and other
simultaneously occur endocrine disorders
around the nipples and
external genitalia
 Most frequently 90% of
the time seen in women,
10% in men

104.  Tx- avoid sunlight, and a
Melasma complete sun block with
broad-spectrum UVA
coverage should be used
daily
 Strong association with the  Kligman’s formula
use of birth control pills or (Triluma)
dilantin  > then 4% hydroquinone
 Discontinuing the may be needed
contraceptives rarely clears  Side effects of this is
the pigmentation, and it ochronosis and satellite
may last for years after pigmentation
discontinuing them.  Jessner’s solution,
 Melasma of pregnancy glycolic acid peels,azelaic
usually clears within a few acid, kojic acid, and
months of delivery cystamine and
buthionine sulfoximine
are other options

105. Melasma

106. Melasma

107. Melasma

108. Acromelanosis Progressiva
 AKA acropigmentation  By age 4 or 5 the
 A progressive pigmentary perineum, extremities,
disorder first described in a and areas of the head
Japanese infant and neck were involved
 Characterized by diffuse
 Epileptiform seizures
black pigmentation on the
dorsum of all the fingers occurred
and toes  History revealed
 Pigmentation became consanguinity
progressively more
widespread and more
pigmented

109. Pigmented Anomalies of the
Extremities
 Acropigmentation of Dohi  Patients develop
 Found to affect individuals progressive pigmented &
from Europe, India, depigmented macules
Caribbean  Often mixed in is a
 First described in Japan in reticulate pattern
12 patients
 Many believe this to be a
 AKA dyschromatosis
variation of
symmetrica hereditaria or
symmetrical acropigmentation of
dyschromatosis of the Kitamura
extremities

110. Reticular Pigmented Anomaly
 Clinically it looks smooth
of the Flexures  Pigmententation is
 A rare pigmentary adult- reticular; at the
onset disorder periphery, discrete,
 AKA Dowling-Degos brownish black macules
disease or dark dot disease surround the partly
 Should be considered confluent central
whenever acanthosis pigmented area
nigricans is in the  Typically, axillae,
differential & pt is not inframmary folds, and
obese and is known not to intercrural folds are
have any internal involved
malignancy  There are frequently pits,
sometimes pigmented ,
about the mouth

111. Reticular Pigmented Anomaly
of the Flexures
 It begins age 20 to 30  Many authors believe it is a
spectrum of reticulate
yrs and progresses acropigmentation of
gradually Kitamura
 Unknown etiology  Another manifestation of
this disorder is familial-
 AD with variable rocacea-like dermatitis
penetrance and with warty keratotic
expressivity, and plaques on the trunk and
limbs
delayed onset
 There is no treatment

112. Histology
 Distinctive elongation,
tufting, and deep
hyperpigmentation of
therete ridges, with
protrusion of similar
tufts even from the
sides of the follicles

113. Reticulate Acropigmentation
of Kitamura
 AD  One report of a pt with
bony abnormalities
 Characterized by linear
consisting of absence of
palmar pits and terminal phalanges of the
pigmented macules 1-4 second, third, and fourth
mm in diameter on the toes
volar and dorsal  Some tx success has been
aspects of the hands reported using axelaic acid
and feet ointment

114. Dermatopathia Pigmentosa
Reticularis
 Consists of a triad of  An autosomal
generalized reticulate
hyperpigmentation, dominant inheritance
noncicatricial alopecia, and pattern has been
onychodystrophy reported.
 Other associations:
adermatoglyphia,
hypohidrosis or
hyperhidrosis,
palmoplantar
hyperkeratosis, and
nonscarring blisters on
dorsa of hands and feet.

115. Dermatopathia Pigmentosa
Reticularis

116. Transient Neonatal Pustular
Melanosis  Histologically, there are
intracorneal or
 Infants develop 2- subcorneal aggregates of
3mm macules, predominantly
pustules, and ruptured neutrophils, but
pustules at birth, eosinophils may also be
found
predominantly
 Dermal inflammation is
involving the face
composed of an
 Pigmentation may last admixture of neuts and
for weeks or months eos
after the pustules are  Differential dx: ETN,
healed neonatal acne, &
acropustulosis of infancy

117. Transient Pustular Neonatal
Melanosis

118. Transient Neonatal Pustular
Melanosis

119. Peutz-Jeghers  Macules may also occur
around the mouth, on
the central face, backs of
the hands, especially the
 Characterized by fingers, and on the toes
hyperpigmented macules and tops of the feet.
on the lips and oral  Associated polyposis
mucosa and polyposis of
the small intestine involves the small
intestine preferencely
 Dark brown or black
 But, hamartomatous
macules appear typically
on the lips, especially the polyps of the stomach
lower lip, in infancy or and colon may occur
childhood  Symptoms of
 Similar lesions may hamhartomas of the
appear on buccal small intestine may cause
mucosa, tongue, gingiva, repeated bouts of
and genital mucosa abdominal pain and
vomiting, and
intussusception

120. Peutz-Jeghers Syndrome
 Cosmetic tx of labial  Syndrome is inherited and
macules has been transmitted as a simple
accomplished with the use mendelian dominant trait
of a 694-mm ruby laser  Sporadic noninherited
 incidence of malignancy cases may occur
within the polyps is 2-3%  The gene (STK11) has been
 Incidence of GI malignancy localized to 19p13.3
is low, but increased  19p13.3 is believed to be a
incidence of other kinds of tumor suppressor gene
cancer-breast, and
gynecologic malignancies
in women

121. Peutz-Jeghers Syndrome
 A protein-losing
 Cronkhite-Canada
enteropathy may
syndrome should be
develop and is associated
considered in dx
with the degree of
 Characterized by intestinal polyposis
melanotic macules on  Onset is after age 30 yrs
the fingers and
gastrointestinal polyposis  Sporaically occurring,
 Also generalized , benign condition
uniform darkening of the  Hypogeusia is the
skin, extensive alopecia, dominant initial
and onychodystrophy symptom
 The polys that occur are  Diarrhea and ectodermal
usually benign adenomas changes may follow
and may involve the  75% of cases have been
whole GI tract reported in Japan

122. Peutz-Jeghers syndrome
 Lip lentigenes in an
adolescent with
Peutz-Jeghers
syndrome

123. P-J syndrome

124. Pathology

125. Reihl’s Melanosis
 Photosensitivity,  Characteristic feature is
phototoxic dermatitis spotty light to dark brown
pigmentation
 Begins with pruritis,
 Most intense on the
erythema, and
forehead, malar regions,
pigmentation, gradually behind the ears, on the
spreads, then becomes sides of the neck, on other
stationary sun-exposed areas
 Melanosis occurs mostly in  Also circumscribed
women and develops over telangiectasia and
months temporary hyperemia

126. pathogenesis
 Sun exposure following  Has been reported in
perfume or cream patients with AIDS and
 A photocontact Sjogren’s syndrome
dermatitis  No good treatments
 One report of a  The cause of the sensitivity
positive patch test needs to be determeined
results to lemon oil,  Hyperkeratosis and
geraniol, and pigmentation disappear
hydroxycitronellal spontaneously

127. Tar Melanosis
 An occupational  Small, dark, lichenoid,
dermatosis occurring follicular papules become
among tar handlers after profuse on the extremities,
years of exposure namely the forearms
 Severe, widespread itching  Bullae are sometimes
develops, followed by observed
reticular pigmentation,  Represents a
telangiectases, and a shiny photosensitivity or
appearance of the skin phototoxicity induced by
 There is a tendency for tar
hyperhidrosis

128.  AD inheritance
 Histologically- increase in
Familial melanin in the basal cell
Progressive patches
 Characterized by layer, especially at the
tips of the rete ridges
of hyperpigmentation,
Hyperpigmentation
present at birth,  Pigmented granules are
increasing in size and scattered diffusely
number with age throughout the
 Hyperpigmentation epidermal layers
appears in the  Differentiated from other
conjunctivae and the hyperpigmentations by
buccal mucosa over time presence of bizarre,
 Eventually large portions sharply marginated
of skin and mucous patterns of
membranes become hyperpigmented skin
involved

129. Universal Acquired
Melanosis(Carbon Baby)
 Ruiz-Maldonado  EM showed a negroid
reported a case of a pattern in the
Mexican child, born melanosomes of the
white, who epidermal melanocytes
progressively became
black and keratinocytes
 Developed  Melanocytes were not
pigmentation of the increased in number
palms, soles, mucous
membranes

130. Zebralike Hyperpigmentation
 Alimurung et al reported  Hyperpigmenation was
an unusual pattern of linear and symmetrical,
hyperpigmentation in a involving the trunk and
black male infant with extremities
congenital defects (ASD,  Increased number of
dextrocardia, auricualr melanocytes in the bands
of hyperpigmentation
atresia, deafness. And
 Pigmentary anomaly fades
growth retardation)
with time spontaneously
 May be a varient of
incontinentia pigmenti

131. Periorbital
Hyperpigmentation
1.) Familial periorbital 2.) Erythema
melanosis (AD) dyschromicum
 Usually involves all four
perstans is a rare cause
eyelids, may extend to 3.) Familial dark circles
around the eyes,
involve the eyebrows frequently seen in
and cheeks individuals of
Mediterranean
ancestry

132. Metallic Discolorations
 Pigmentation from deposition of fine metallic
particles in the skin
 Metal may be carried to skin from the blood
stream or may permeate into it from surface
applications

133. Argyria
 Local tx with a silver-
containing product may
produce argyria
 Examples: conjunctivae,
 Localized or widespread from eye drops; a wound
slate-colored pigmentation from sulfadiazine cream,
 Due to silver in the skin earlobes from silver
 Most noticeable in parts earings; and from silver
exposed to sunlight acupuncture needles
 Can also occur from
 Tissue silver may stimulate
melanocytes occupational exposure,
usually siversmiths
 Initially discoloration is
 In localized exposures,
hardly perceptible, having
only a faint blue color, but the appearance may be
a slate-gray color develops separated by many years
with time from the exposure

134. Histology
 Systemic and localized argria have the same
features
 Normal appearing skin under low power
 Fine black granules in the basement zone of the
sweat glands,blood vessel walls, d-e junction,
and arrector pili muscles
 Unstained biopsy section by darkfield
illumination demonstrates silver granules
outlining basement membrane of the epidermis
and the eccrine sweat glands

135. Bismuth
 Rarely associated with deposition of metallic
particles in gums when used IM or orally
 Also known as the bismuth line
 Presence of stomatitis or peridontitis increased
the risk
 Generalized cutaneous discoloration, in addition
to oral mucous membrane and conjunctival
pigmentation resembling argyria has occurred
but has not be reported in the last 50 years

136. Lead
 Chronic lead poisoning can produce a “lead
hue” with lividity and pallor
 Deposit of lead in the gums may occur and is
known as the “lead line”

137. Iron
 In the past, soluble iron compounds were
used in the treatment of allergic contact
dermatitides
 In eroded areas iron was sometimes
deposited in the skin, like a tattoo
 Use of Monsel’s solution can produce similar
tattooing

138. Gold  Chrysiasis may be induced by parenteral
administration of gold salts, usually for the
treatment of rheumatoid arthritis
 More commonly recognized in white patients
 A mauve, blue, or slate/gray pigmentation
develops initially on the eyelids, spreading to the
face, dorsal hands, and other areas
 Severity is related to the total dose received, rare
< a dose of 20 mg/kg of elemental gold
 Pigment is accentuated in light-exposed areas,
and sun protected areas do not demonstrate
gold
 Localized chrysiasis has been induced by the Q-
switched ruby laser tx in a patient on parental
gold therapy

139. Mercury
 Mercurial pigmentation in the skin is rare,
especially since the use of mercurials has
been strictly controlled
 Most common presentation is subcutaneous
nodules that result from accidental
implantation of elemental mercury from a
thermometer into skin

140. Canthaxanthin
 Orange-red pigment canthaxanthin is present in
many plants ( notably algae and mushrooms)
and in bacteria. Crustaceans, sea trout, and
feathers
 When ingested for the purpose of simulating a
tan, its deposition in the panniculus imparts a
golden orange hue to the skin
 Stools become brick red and the plasma orange,
and golden deposits appear in the retina

141. Dye Discoloration
 Blue hands from accidental dyeing were
reported by Albert in 1976
 A man’s hands were dyed as a result of
warming them in his armpits while wearing a
new blue flannel shirt
 The dye was insoluble in water, but soluble in
sweat

142. Rubeosis
 A rosy coloration of the face occurring in
young people with uncontrolled diabetes
mellitus
 May be associated with xanthochromia to
produce a “peaches and cream” complexion

143. Vitiligo
 Usually begins in childhood or young adulthood
 50% of cases begin before age 20
 Prevalence ranges from 0.5% to 1%
 Females are disproportionately represented
among patients seeking medical care, it is not
known if it is actually more common in females
or simply because they more often bring it to
their physicians attention

144. Clinical Features
 An acquired pigmentary anomaly of the skin
 Manifested by depigmented white patches
surrounded by a normal or a hyperpigmented
border
 There may be intermediate tan zones or lesions ,
halfway between the normal skin color and
depigmentaton-so-called trichrome vitiligo
 Hairs in vitiliginous areas usually become white
also
 Rarely, the patches may have a red,
inflammatory border
 Patches are of various sizes and configurations

145. Types
 Localized or focal(including segmental)
 Generalized
 Universal
 Acrofacial

146. Vitiligo
 Generalized is the most common
 Involvement is symmetrical
 Most commonly involving the face, upper chest,
dorsal aspects of the hands, axillae, and groin
 Tendency for skin around orifices to be affected
(eyes,nose, mouth, ears, nipples, umbilicus,
penis, vulva, anus)
 Lesions also favor areas of trauma (elbows and
knees)

147. Generalized Vitiligo
 Involvement of
perineal and inguinal
skin
 Note the distinct
borders

148. Acral Vitiligo

149. Symmetric, Acral Vitiligo
 Left: pre-PUVA treatment
 Right:same pt shows perifollicular pattern of
repigmentation during PUVA therapy

150. Segmental Vitiligo
 Rapidly progressing
segmental vitiligo

151. Segmental Vitiligo
 Segmental vitiligo of
the eyebrow and
eyelashes

152. Segmental Vitiligo
 Segmental vitiligo on the
arm , neck, and chest
 Note areas of
spontaneous follicular
repigmentation
 Left upper back with
partial spontaneous
repigmentation

153. Universal Vitiligo
 Applies to cases where
the entire body surface
is depigmented

154. Focal Vitiligo
 May affect one
nondermatomal site
 Or asymmetrically affect
a single dermatome
 This form is treatment
resistant, has an earlier
onset, and is frequently
associated with other
autoimmune phenomena
 It represents 5% of adult
vitiligo and 20% of
childood vitiligo
 Trigeminal area is most
commonly affected

155. Acrofacial Vitiligo
 Type affecting the
distal fingers and the
facial orifices

156. Vitiligo
 Local loss of pigment may occur around nevi and
melanomas, the so-called halo phenomenon
 Vitiligo-like leukoderma occurs in 1% of
melanoma patients
 In those previously dx with melanoma, it
suggests metastatic disease
 Paradoxically, patients who develop leukoderma
have a better prognosis than patients without it
 Halo nevi are more common in patients with
vitiligo
 Lesions are hypersensitive to UV light and burn
easily when exposed to the sun

157.  Ocular abnormalities are
increased in patients with
vitiligo  Vitiligo occurs in 13% of
 Iritis and retinal pts with the autoimmune
pigmentary polyendocrinopathy-
abnormalities candidiasis-ectodermal
 8% of pts with idiopathic dystrophy (APECED)
uveitis have vitiligo or  Familial aggregation is
poliosis seen- up to 30% of
 Most frequent vitiligo pts have an
associations are with affected relative-it is not
other “autoimmune” inherited as AD or AR
diseases((IDDM, trait, but has a
pernicious anemia, multifactorial genetic
Hashimoto’s thyroiditis, basis
Graves’ disease,
Addison’s disease, and
AA)

158. Childhood Vitiligo
 Shows an increase in  Poor response to PUVA
segmental therapy
presentation
 More frequent
autoimmune or
endocrine anomalies
 High incidence of
premature graying in
females

159. Vitiligo
 Completely
depigmented oval
ivory white areas with
convex
hyperpigmentated
borders

160. Vitiligo
 Vitiligo with
depigmentation of
the lips

161. Henne Induced Vitiligo

162. Occupational Vitiligo
 All the intermediates in
 Thiols, phenolic the biosynthesis of
compounds, catechol, melanin are phenolic
derivatives of catechol, compounds, therefore
mercaptoamines, and postulated that
several quinones produce accumulation of these
depigmentation within the melanocyte
 Seen in pts who work in may damage or kill the
rubber garments or wear cell.
gloves containing an  Clinical pattern may be
antioxidant, monobenzyl similarto vitiligo, but
ether of hydroquinone lesions tend to be
concentrated in areas of
contact with the
incriminated substance

163. Occupational Vitiligo
 Many phenolic compounds can produce
leukoderma, with or without antecedent
dermatitis
 Examples: paratertiary sulfhydryls; monobenzyl
ether of hydroquinone
 One source is phenolic antiseptic detergents
used in hospitals
 Adhesives and glues containing them may be
found in shoes, wristbands, and adhesive tape,
and rubber products used in brassieres, girdles,
panties, or condoms may also be at fault
 Self-sticking bindis (the cosmetic used by many
Indian woman on the forehead) has been
reported to induce leukoderma from the
adhesive material

164. Chemical Depigmentation
 Chemical
depigmentation due
to a germicidal
detergent
 Pts usually improve
with discontinuation
of the offending
agent

165. Pathogenesis
 Three possible mechanisms have been
proposed as inducing vitiligo are
autoimmunity, neurohumoral factors, and
autocytotoxicity
 No mechanism has been conclusively proven

166. Histology
 There is complete
loss of melanocytes
 Usually there is no
inflammatory
component

167. Differential
 Morphea
 Lichen sclerosis
 Pityriasis alba
 Tinea versicolor tertiary pinta

168. Treatment  Fair-skinned pts may
manage their disease
 Spontaneous with sunblock
repigmentation occurs in  Sun protection is
no more than 15% to 25% mandatory in all pts with
of cases vitiligo because of the
 Response is slow loss of protection from
 PUVA may actually UV radiation in the
worsen the appearance depigmented skin
initially by pigmenting  Topical steroids may be
surrounding skin useful on focal or limited
 Cover-up lesions
strategies(topical dyes,  Mid to super high-
make-up, self-tanning potency steroids are
creams) often required on trunk
and acral lesions with the
strength tapered as the
lesions respond

169.  Systemic steroids lead to
temporary Treatment
repigmentation, this is
usually lost as the
steroidal agents are
tapered  Trioxsalen, at a dose of up
 PUVA therapy is the to 20-40mg, is taken a few
most common treatment hours before natural sun
for generalized vitiligo exposure
 Topical application of 8-  Risk of phototoxicity is
methoxypsoralen at a low,so this can be done at
concentration of 0.05% home
to 0.01%, followed by  Ocular protection must be
UVA exposure worn from the ingestion of
 Topical PUVA is used for the drug through the whole
focal or limited lesions tx day
 Inadverrtent burns with
blistering are frequent
during tx

170.  Most commonly, 8-  Two-three tx’s/week are
methoxyporalen is used done
 Initially tx is  20% of pts total
QOD(because of the repigmentation
delayed erythema of occurs;30% to 40% have
PUVA), increased to QD partial response
once dose is defined  Acral, periorificial, and
 1hr to 30 mins before segmental lesions
UVA exposure , 8- respond less well
methoxypsoralen  Darker-skinned pts have
0.5mg/kg is ingested
a better response, since
 Initial UVA dose is 1 or 2 they tolerate higher UV
J/cm squared, which is doses
gradually increased; 5-  Repigmentation may
MOP has an aefficccacy
begin after 15-25
equal to that of 8-MOP
tx’s;significant
and less risk of
improvement may take
phototoxicity
100-300 tx’s

171.  If there is no follicular
repigmentation after 3-6  Phenylalanine/UVA(PAU
months or approx 50 tx’s VA) is much less effective
PUVA should be abated than PUVA
 CI to PUVA:  UVB tx alone with 311-
photosensitivity, nm irradiation is
porphyria, liver disease, associated with a higher
SLE rate of acute
 Surgical tx’s can be phototoxicity but may be
applied to limited lesions successful
if all other tx modalities  UVA plus topical steroids
have been exhausted is superior to either agent
 Epidermal grafting, alone, but is successful
autologous minigrafts, only 24-36% of the time
and transplantation of after 9 months
cultured and noncultured
melanocytes

172.  If > 50% of the body surface area is affected by
vitiligo, the pt can consider depigmentation
 This tx is permanent
 Monobenzone 20% is applied BID for 3-6 months
to residual pigmented areas
 Up to 10 months may be required
 One in six pts will experience acute dermatitis,
usually confined to the still-pigmented areas

173. Vitiligo
 Partial
repigmentation of
lesions of vitiligo on
the leg of a 14-year-
old child at the end of
the summer of sun
exposure

174. Vitiligo
 Partial repigmenation
of vitiligo following
psorralen-ultraviolet
light (PUVA) therapy

175. Vitiligo
 Permanent
repigmentation after
2 years of
photochemotherapy
(tripsoralen followed
by sunlight exposure)

176. Vogt-Koyanagi-Harada
Syndrome
 Characterized by bilateral uveitis, symmetrical
vitiligo, alopecia, white scalp hair, eyelashes and
brows(poliosis, and dysacousia(diminished
hearing)
 Occurs in thirties
 Initial or meningoencephalitic phase occurs with
prodromata of fever, malaise, headache, nausea,
and vomiting
 Also may have psychosis, paraplegia,
hemiparesis, aphagia, and nuchal rididity
 Recovery is usually complete

177. VKHS
 Second phase(ophthalmic-auditory stage) is
characterized by uveitis, dreased visual
acuity, photopobia, and decreased
hearing(50%)
 The convalescent phase begins 3weeks to 3
months after it begins to improve

178. Alezzandrini’s Syndrome
 Extremely rare syndrome characterized by a
unilateral degenerative retinits
 This is followed several months later by
ipsilateral vitiligo on the face and ipsilateral
poliosis
 Deafness may also be present

179. Alezzandrini’s Syndrome

180. Leukoderma
 Postinflammatory leukoderma may result from
inflammatory dermatoses ie:
 Pityriasis rosea, psoriasis, herpes zoster,
secondary syphilis, and morphea, sarcoidosis,
tinea versicolor, mycosis fungoides,
scleroderma, and pityriasis lichenoides chronica,
and leprosy
 Other causes: burns, scars, postdermabrasion,
and intralesioal steroid injections

181. Leukoderma
 Postinflammatory
hypopigmentation in
a 4-month-old black
child with atopic
dermatitis

182. Leukoderma
 Postinflammatory
hypopigmentation
following resolution
of guttate psoriasis

183. Pityriasis alba
 Ill-defined
hypopigmented oval
patches are generally seen
on the face, upper arms,
neck, and shoulders of
affected persons
 It can be differentiated
from vitiligo by its fine
adherent scale, partial
hypopigmentation, and
distribution

184. Pityriasis alba
 White, slightly scaly
patches with
indistinct borders on
a child’s cheek

185. Postinflammatory
hypopigmentation

186. Albinism
 A partial or complete congential absence of
pigment in the skin, hair, and eyes
(oculocutaneous albinism), or the eyes alone
(ocular albinism)
 Cutaneous phenotype of the various forms is
broad, but the ocular phenotype is reasonably
constant in most forms
 The ocular phenotype includes decreased visual
acuity, nystagmus, pale irides that
transilluminate, hypopigmented fundi,
hypoplastic foveae, and lack of stereopsis

187. Albinism
 This pt has light skin,
yellowish white hair,
and a lack of
pigmentation in nevi

188. Oculocutaneous Albinism 1
 OCA 1 results from mutations in the tyrosinase
gene
 Affected pts are homozygous for the mutant
gene or are compound heterozygotes for
different mutations in the tyrosinase gene
 AR
 Two forms: 1) OCA 1A & OCA 1B
(indistinguishable at birth)
 OCA 1 is most severe with complete absence of
tyrosinase activity and complete absence of
melanin in the skin and eyes
 Visual acuity is decreased to 20/400
 OVA 1B tyrosinase activity is reduced but not
absent. Pts may show increase in skin,hair, eye
color with age and can tan

189. OCA 1
 OCA 1B was originally called “yellow mutant”
albinism
 Temperature sensitive OCA (OCA 1-TS) results
from mutations in the tyrosinase gene that
produce an enzyme with limited activity < 35
degrees C and no activity below this temp. pts
have white hair, skin, andeyes at birth, at
puberty dark hair develops in cooler acral areas

190.  Top:albinism with white
hair, pale skin, and
translucent irides
 Bottom:ophthalmoscopi
c view of a pt with
albinism demonstrates a
pale fundus, poor
macular development,
and prominent choroidal
vasculature

191. Oculocutaneous Albinism 2
 Prevalence of 1:15,000
 Pts were named “tyrosinase-positive” albinos
 AR and mutations occur in the P gene
 P gene codes a membrane transport protein
that is present in the melanosome membrane
 Cutaneous phenotype of OCA 2 pts is broad,
ranging from nearly normal pigmentation to
virtually no pigmentation
 Pigmentation increases with age, and visual
acuity improves with age
 Prader-Willi and Angelman syndromes are
caused by deletions in the P gene; 1% of pts with
these syndromes also have OCA 2

192. Oculocutaneous Albinism 3
 AR-caused by mutations in the tyrosine-related
protein 1 (TRP-1), located on chromosome 9
 OCA 3 has been described only in black pts and is
characterized by light brown hair, light brown
skin, blue/brown irrides, nystagmus, and
decreased visual activity
 Brown rather than black melanin is formed

193. Ocular Albinism
 There are multiple forms of ocular albinism
 OA 1 may be present with lighter than expected
skin
 It is X-linked
 Female carriers have “mud-splattered” fundi
 Macromelanosomes are found in the skin, so skin
bx may be a helpful tool
 Many cases of AR ocular albinism have been
reclassified as OCA 1 or OCA 2

194. Syndromes Associated with
Albinism
 Chediak-Higashsi Syndrome
 Hermansky-Pudlak Syndrome
 Griscelli Syndrome(partial albinism with
immunodeficiency)
 Elejalde Syndrome
 Cross-McKusick-Breen Syndrome
 Cuna Moon Children

195. Classification of
Oculocutaneous Albinism

196. Selenium Deficiency
 Selenium deficiency in the setting of total
parental nutrition can lead to pseudoalbinism
 Skin and hair pigmentation return to normal
with supplementation

197. Waardenburg’s Syndrome
 Four genotypic variants  Pts have features of
exist: piebaldism, with white
 Types 1 & 3 are caused by forelock,
mutations in the PAX gene hypopigmentation,
on chromosome 2 premature graying,
 Type 2 is caused by synophrys, congenital
deafness, a broad nasal
mutations in the MITF root, and ocular changes
gene on chromosome 3, including heterochromia
and type 4 due to irides
mutations in the ENDRB
gene on chromosome 13  Apparently, melanoblasts
fail to reach the target sites
during embryogenesis

198.  Rare, AD with variable
Piebaldism phenotype, presenting at
birth
 White forelock, patchy
absence of skin
pigmenation
 Depigmented lesions are
static and occur on the
anterior and posteroir
trunk, mid upper arm to
wrist, mid-thigh to mid-
calf, and shins
 A characteristic feature is
the presence of
hyperpigmented macules
within the areas of lack of
pigmentation and on
normal skin

199. Piebaldism

200. Piebaldism
 Segmental white
patch on the neck
with a tuft of white
hair present from
birth

201. Piebaldism
 White forelock and
patch of
unpigmented skin in
a young girl with
piebaldism

202. Piebladism
 The white forelock arises from a triangular or
diamond-shaped midline white macule on the
frontal scalp or forehead
 The medial portions of the eyebrows, and
eyelashes may be white
 Histologically, melanocytes are completely
absent in the white macules
 Etiology is a mutation in the c-kit protooncogene
 Phenotypic differences seen in families is caused
by different locations of mutations in the gene
 The white lesions may respond to surgical
excision

203. Idiopathic Guttate
Hypomelanosis symmetrica progressiva
 AKA leukopathica
 Very common aquired disorder affecting women
more frequently than men
 Usually occurs after age 40
 Lesions occur on the shins and forearms; are
small (6 or 8mm), rarely become very numerous (
a dozen or two at most), and never occur on the
face or trunk
 Lesions are irregularly shaped and very sharply
defined, like depigmented ephelides, and are
only of cosmetic significance

204. Idiopathic Guttate
Hypomelanosis