Background

There are number of genetic syndromes that have predominant manifestations within the skin.

OUTLINE

Differential Diagnosis
Commonly Used Terms
Internet Links

AUTOSOMAL DOMINANT
Blistering	Epidermolysis bullosa (Cockayne) EB dystrophica EB simplex Pemphigus, Benign familial (Hailey-Hailey disease)
Connective tissue abnormalities	Cutis laxa Distichiaisis and lympedema Ehlers-Danlos syndrome Hereditary Sclerosing Poikiloderma Lipoatrohic diabetes Marfan's syndrome Multiple benign ring shaped skin creases Pseudoxanthoma elasticum
Gastrointestinal and skin	Gardner's syndrome Keratoderma with esophageal cancer Peutz-Jeghers syndrome Birt-Hogg-Dube syndrome
Hair abnormalities	Congenital scalp defect
Hyperkeratosis	Acrokeratosis verruciformis of Hopf
Hyperpigmentation	Alkaptonuria
Hypopigmentation	Albinism
Light sensitivity	Albinism
Nail plate and nail bed defects	Anonychia ectrodactyly
Tumors	Bannayan-Zonana syndrome Basal cell nevus syndrome Carney Complex Cowden's syndrome
Urticaria and edema	Cold hypersensitivity
Vascular skin lesions	Blue rubber bleb nevus syndrome Glomus tumors Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)
AUTOSOMAL RECESSIVE
Blistering	Acrodermatitis enteropathica Congenital erythropoietic porphyria EB dystrophica EB letalis Tyrosinemia
Connective tissue abnormalities	Alkaptonuria Cockayne's syndrome
Hair abnormalities	Congenital scalp defect
Hyperkeratosis	Conradi's syndrome
Hyperpigmentation	Fanconi's syndrome
Hypopigmentation	Albinism
Light sensitivity	Albinism
Multiple skin papules	Epidermodysplasia verruciformis
Skin ulcers	Prolidase deficiency
Tumors	Xeroderma pigmentosum
Vascular skin lesions	Ataxia-telangiectasia Bloom's syndrome Fucosidosis type II Rothmund-Thomson syndrome Sialidosis, juvenile type II
X-LINKED DOMINANT	Goltz syndrome (Focal Dermal Hypoplasia) Incontinentia pigmenti
X-LINKED RECESSIVE	Fabry's disease Hunter's syndrome (MPSII) Lesch-Nyhan syndrome Menkes' disease X-linked ichthyosis with steroid sulfatase deficiency

DISEASES WITH SKIN MANIFESTATIONS, NEOPLASIA, AND CHROMOSOMAL INSTABILITY

DISEASE	CHARACTERIZATION
Ataxia-Telangiectasia
Bloom's syndrome
Dyskeratosis congenita
Fanconi's aplastic anemia
Gardner's syndrome
Werner's syndrome

ADDITIONAL SYNDROMES	CHARACTERIZATION
BROOKE-SPIEGLER SYNDROME
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. Kazakov DV, Soukup R, Mukensnabl P, Boudova L, Michal M. Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic.	Am J Dermatopathol. 2005 Feb;27(1):27-33. Abstract quote   Brooke-Spiegler syndrome is an autosomal dominantly inherited disease with predisposition to cutaneous adnexal neoplasms, most commonly cylindromas and trichoepitheliomas. We report a patient in whom 11 lesions were removed from the scalp and face for various reasons over a period of 3 years. The histopathological survey revealed a plethora of benign adnexal neoplasms showing apocrine, follicular, and sebaceous differentiation occurring independently and conjointly. The histopathological spectrum in our patient included cylindromas, spiradenomas, trichoepitheliomas, small nodular trichoblastomas, and lymphadenomas. Many lesions had hybrid features of two or more neoplasms. By far the most common composite tumor was spiradenocylindroma. Some spiradenocylindromas demonstrated prominent sebaceous or trichoblastomatous differentiation or both. We suggest the terms "sebaceous spiradenocylindroma" and "trichospiradenocylindroma" for these lesions. The occurrence of sebaceous and trichoblastic differentiation in spiradenocylindromas is a further proof that spiradenoma and cylindroma are not eccrine tumors but neoplasms of the folliculosebaceousapocrine unit.
Muir-Torre Syndrome

Henry JB. Clinical Diagnosis and Management by Laboratory Methods. Twentieth Edition. WB Saunders. 2001.
Rosai J. Ackerman's Surgical Pathology. Ninth Edition. Mosby 2004.
Sternberg S. Diagnostic Surgical Pathology. Fourth Edition. Lipincott Williams and Wilkins 2004.
Robbins Pathologic Basis of Disease. Seventh Edition. WB Saunders 2005.
DeMay RM. The Art and Science of Cytopathology. Volume 1 and 2. ASCP Press. 1996.
Weedon D. Weedon's Skin Pathology Second Edition. Churchill Livingstone. 2002
Fitzpatrick's Dermatology in General Medicine. 5th Edition. McGraw-Hill. 1999.
Weiss SW and Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors. Fourth Edition. Mosby 2001.

Basic Principles of Disease
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Commonly Used Terms
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Diagnostic Process
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Surgical Pathology Report
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Special Stains
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Last Updated February 23, 2005

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