Survey
* Your assessment is very important for improving the work of artificial intelligence, which forms the content of this project
Download Langerhans Cell Histiocytosis - Pacific Dermatologic Association
Document related concepts
no text concepts found
Transcript
Brooke-Spiegler Syndrome Quyn Sherrod, MD; Miguel Gutierrez, MD; Keith Carlson, MD UCLA/WLA VA Division of Dermatology David Geffen School of Medicine Los Angeles, California History 39 year-old, healthy, Caucasian male Multiple lesions on face and scalp beginning at 10 years old Nonpainful, nonpruritic Previous paranasal biopsy consistent with trichoepithelioma Mother with similar presentation Physical Exam Physical Exam Physical Exam Physical Exam Histopathology Histopathology Scalp cylindroma-spiradenoma Histopathology Scalp cylindroma Histopathology Scalp spiradeoma Histopathology Face trichoepithelioma Brooke-Spiegler Syndrome Brooke-Spiegler Syndrome Uncommon syndrome with autosomal dominant inheritance pattern Variable expression and penetrance More severe phenotype in women Mutiple cutaneous adnexal neoplasms Cylindromas, spiradenomas, trichepitheliomas on head and neck Clinical Presentation Begins during second or third decade Cylindromas, spiradenomas on scalp ‘Turban tumors’ when numerous Trichoepitheliomas more common on face Progressive increase in size and number Genetics Autosomal dominant mutation affecting epidermal appendages CYLD gene on chromosome 16q12-q13 CYLD functions as a tumor suppresor CYLD inhibits NF-κB transcription factor in the TNF-α signaling pathway, regulating cell growth Differential Diagnosis Familial cylindromatosis Multiple familial trichoepithelioma Rombo syndrome – – – Vermicular atrophoderma - Milia Basal cell carcinomas - Hypotrichosis Peripheral vasodilation/cyanosis - Trichoepitheliomas Bazex syndrome – – – Follicular atrophoderma Basal cell carcinomas Hypohidrosis - Hypotrichosis - Trichoepitheliomas Prognosis Psychologic impact due to physical disfigurement Rare malignant transformation of trichoepitheliomas into basal cell carcinomas – -Low metastatic potential Rare malignant transformation of cylindromas and spiradenomas – -Local infiltration and distant metastases reported Increased risk for salivary and parotid gland adenomas and adenocarcinomas Treatment Excision Dermabrasion Electrodessication Cryotherapy Radiotherapy Laser- Argon, erbium:Yag, CO2 Medical therapy with sodium salicylate and prostaglandin A1 is under investigation – -Inhibit NF-κB activiation Monitor for clinical signs of malignant transformation References Kakagia D, Lambropoulou M, Alexiadis G. Brooke-Spiegler syndrome with parotid gland enlargement. Eur J Dermatol. 2004 May-Jun;14(3):139-41. Kim C, Kovich OI, Dosik J. Brooke-Spiegler syndrome. Dermatol Online J. 2007 Jan 27;13(1):10. Zhang GL, Huang YJ, Yan KL et al. Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. Exp Dermatol. 2006 Dec;15(12):966-70. Ly H, Black MM, Robson A. Case of the Brooke-Spiegler syndrome. Australas J Dermatol. 2004 Nov;45(4):220-2. Szepietowski JC, Wasik F, Szybejko-Machaj G et al. Brooke-Spiegler syndrome. J Eur Acad Dermatol Venereol. 2001 Jul;15(4):346-9. Ralla D, Harland CC. Brooke-Spiegler syndrome: treatment with laser ablation. Clin Exp Dermatol. 2005 Jul;30(4):355-7. Lee DA, Grossman ME, Schneiderman P et al. Genetics of skin appendage neoplasms and related syndromes. J Med Genet. 2005 Nov;42(11):811-9.
Related documents