2. Background
• Skin changes can be the first sign of an
internal neoplasm.
• They may become more apparent
following detection of a malignant
tumour.
• Skin diseases may indicate recurrence of
cancer in previously remitting patients.
3. • Genetic syndromes with a cutaneous
component are named genodermatoses.
These predispose individuals to cancer
development.
• Paraneoplastic syndromes may occur as
a result of circulating factors produced
by the underlying malignancy.
4. 1) Genodermatoses
• Cowden’s disease
A rare autosomal
dominant condition.
Characteristic papules
on body
(hamartomas).1
Diverse phenotypes
with an increase risk of
breast, endometrial,
thyroid, kidney and
colorectal cancers.
5. • Gardner syndrome
-Benign lipomas, frontal
& maxillary osteomas.
(often get exophthalmos)
-Related to
familial adenomatous
polyposis(FAP). Colon polyps
become malignant and
extracolonic tumours of
thyroid, craniofacial skeleton
& cysts of the epidermis.
Picture from case study. 2
6. • Muir-Torre syndrome
MTS is a rare
autosomal dominant
disorder
characterised by
sebaceous cyst
tumours.
Common internal
malignancies
associated with the
syndrome include GI,
GU & breast cancers.
78 year old male with a lobulated mass in left upper
eyelid & lateral canthus.3
7. Neurofibromatosis4
• NF type 1 (von Recklinghausen disease)
-Neurofibromatosis is a genetic disorder
inherited in an autosomal dominant fashion.
-It presents with a phenotype of benign tumours
of the nervous system all over the body. These
soft tissue tumours can grow to incredible sizes
and be debilitating. They may cause damage to
nerves & underlying structures due to
compressive effects.
-Every year in the UK, 300 babies are born with
the condition.
• NF type 2 (schwannoma)
A less common variant of the disorder presents
with acoustic neuromas of CN8 and leads to
hearing loss in both ears.
Characteristic café au lait spots of NF 1.
Elderly gentleman with
severe NF type 1
8. Gorlin’s syndrome
• Also known as naevoid basal cell carcinoma.
• An inherited mutation which has a phenotupe of skin
tags and cysts, cysts on the jaw, limb abnomalities,
medulloblastoma & benign tumours of the ovaries.
• Also, calcified falx cerebri on MRI.
• Treatment can involve cryotherapy for skin lesions.5
9. MEN syndromes
• Multiple endocrine neoplasia (MEN) syndromes
are inherited conditions in which several
endocrine glands develop benign or malignant
tumours or hyperplasia. Either type 1 or type 2.6
• MEN type 2B disease (development of medullary
carcinoma of the thyroid and phaeochromocytoma.
(>BP))
• MEN type 2B disease is characterised by early
development of mucosal neuromas.
• These appear as shiny bumps around the lips,
tongue and in the mouth, bumps on the eyelids,
cornea and conjunctiva.
• GI tract growths cause diarrhoea, constipation and
in rare occasions, megacolon.
• Individuals often have a Marfanoid appearance.
10. 2) Paraneoplastic syndromes
• Sweet’s syndrome
-Also known as acute febrile
neutrophilic dermatosis & presents with
pyrexia and the appearance of tender
red lumps (erythematous plaques) on
the skin.
-In 50% of cases, the aetiology cannot be
determined, however, examples of
causes include URTIs, IBD, RA and
pregnancy.
-In rare cases it may be associated with
internal malignancy (acute myelogenous
leukaemia (20% of cases)) or an
underlying blood disorder.7
11. • Acanthosis palmaris (Tripe palms)
• Thickened, leathery palms
with the appearance of tripe
associated with internal
tumours in 90% of cases.
(usually ca of stomach or
lung)
• The skin disease is very
rare, but usually precedes
the cancer diagnosis
• Often seen in conjunction
with acanthosis nigricans.
(hyperpigmentation)
Acanthosis nigricans in axilla
12. • Bazex syndrome
• ‘Acrokeratosis neoplastica’ has features similar to
psoriasis and is often associated with SCC of the GI
tract.5
• >M:F ratio
Painful paronychia (swollen cuticles)
13. • Dermatomyositis
• A rare, acquired disease of muscles which
presents with skin rash. It is part of the
inflammatory myopathies group of diseases. It
can be a sign of many internal malignancies, but
particularly ovarian8, lung, pancreatic, stomach
& colorectal cancers & non-Hodgkin lymphoma.
A range of clinical signs:
-Red and blueish patches on sun-exposed skin.
-Heliotrope eyelids (purple)
-Purple spots on bony prominences such as MCP &
IP joints. (known as Gottron’s papules)
-Scaly scalp with much dandruff.
-Less commonly there is poikiloderma (atrophic, thin,
pale skin)
Heliotrope eyelid
14. • 2o Hypertrophic osteoarthropathy
-A clinical sign of internal
malignancy (peripheral
non-small cell ca of lung)
or chronic disease.
-The underlying disease
usually precedes the
cutaneous sign, however,
there have been cases of
the clubbing preceding
identification of internal
malignancy.
15. • Necrolytic migratory erythema
-Rash affecting any site, but particularly the groin, lower legs, genitalia and
anal regions. It is a ring-shaped reddened area which blisters and crusts over
eventually resulting in necrosis of the skin.
-Due to excessive levels of glucagon circulating in the blood which could be a
result of the glucagonoma tumour of the pancreas, but also to other causes of
excessive glucagon.
16. • Generalised granuloma annulare
-A rare presentation of
underlying lymphoma, HIV
infection or solid tumours.
-Presents as a dessiminated
papules arranges in rings.
17. • Erythema annulare centrifugum
-Red, annular skin
eruptions are a rare
sign of malignancy.
Erythema due to an underlying gastric carcinoma.
18. • Trousseau’s syndrome
(sign of malignancy)
-A clinical sign of gliomas and adenocarcinomas of the pancreas and
lung associated with hypercoaguability.
-Crops of tender nodules are seen in affected veins and migratory
blood clots are seen in deep and superficial veins of the extremities.9
19. For reference
1 Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000;37:828-830.
2 Vaswani B A, Shah M, Shah P M, Parikh B J, Anand A S, Sharma G L. Giant mesenteric fibromatosis in Gardner's
syndrome. Indian J Cancer. 2011;48:140-2.
3 Rishi K, Font RL. Sebaceous gland tumors of the eyelids and conjunctiva in the Muir-Torre syndrome: a
clinicopathologic study of five cases and literature review. Ophthal Plast Reconstr Surg. 2004 Jan;20(1):31-6.
4 Harvard Medical School Centre for Neurofibromatosis and Allied Disorders. CNfAD: What is NF? [online]. Available
from: http://www.cnfad.org/nf.html/ [Accessed 20 October 2013].
5 New Zealand Dermatological Society Incorporated. DermNet NZ: Cutaneous markers of internal malignancy.
[online]. Available from: http://www.dermnetnz.org/systemic/malignancy.html/ [Accessed 20 October 2013].
6 Stanford Medicine Cancer Institute. Medullary Thyroid Cancer (MTC). [online]. Available from:
http://cancer.stanford.edu/information/geneticsAndCancer/types/mtc.html/ [Accessed 20 October 2013].
7 British Association of Dermatologists. Patient Information Leaflet: Sweet’s Syndrome (Acute Febrile Neutrophilic
Dermatosis). [online]. Available from:
http://www.bad.org.uk/Portals/_Bad/Patient%20Information%20Leaflets%20(PILs)/Sweets%20Syndrome%20May%2
02012%20-%20lay%20reviewed%20May%202012.pdf/ [Accessed 20 October 2013].
8 Hill CL, Zhang Y, Sigurgeirsson B, Pukkala E, Mellemkjaer L, Airio A, Evans SR, Felson DT. Frequency of specific
cancer types in dermatomyositis and polymyositis: a population-based study. Lancet. 2001;Jan 13;357(9250):96-100.
9 Varki A. Trousseau's syndrome: multiple definitions and multiple mechanisms. Blood. 2007;Sep 15;110(6):1723-9.
