There are number of genetic syndromes that have predominant manifestations within the skin.
Differential Diagnosis Commonly Used Terms Internet Links
Blistering Epidermolysis bullosa (Cockayne)
Pemphigus, Benign familial (Hailey-Hailey disease)
Connective tissue abnormalities Cutis laxa
Distichiaisis and lympedema
Hereditary Sclerosing Poikiloderma
Multiple benign ring shaped skin creases
Gastrointestinal and skin Gardner's syndrome
Keratoderma with esophageal cancer
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
Urticaria and edema Cold hypersensitivity Vascular skin lesions Blue rubber bleb nevus syndrome
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)
Blistering Acrodermatitis enteropathica
Congenital erythropoietic porphyria
Connective tissue abnormalities Alkaptonuria
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
Vascular skin lesions Ataxia-telangiectasia
Fucosidosis type II
Sialidosis, juvenile type II
X-LINKED DOMINANT Goltz syndrome (Focal Dermal Hypoplasia)
X-LINKED RECESSIVE Fabry's disease
Hunter's syndrome (MPSII)
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.
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
Learn the basic disease classifications of cancers, infections, and inflammation
Commonly Used Terms
This is a glossary of terms often found in a pathology report.
Learn how a pathologist makes a diagnosis using a microscope
Surgical Pathology Report
Examine an actual biopsy report to understand what each section means
Understand the tools the pathologist utilizes to aid in the diagnosis
How Accurate is My Report?
Pathologists actively oversee every area of the laboratory to ensure your report is accurate
Recent teaching cases and lectures presented in conferences
Pathologists Who Make A Difference
Search for a Physician Specialist
Last Updated February 23, 2005
Send mail to The Doctor's Doctor with questions or comments about this web site.
Read the Medical Disclaimer.
Copyright © The Doctor's Doctor