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Brooke-Spiegler Syndrome

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

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Brooke-Spiegler Syndrome

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  1. 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

  2. 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

  3. Physical Exam

  4. Physical Exam

  5. Physical Exam

  6. Physical Exam

  7. Histopathology

  8. HistopathologyScalp cylindroma-spiradenoma

  9. HistopathologyScalp cylindroma

  10. HistopathologyScalp spiradeoma

  11. HistopathologyFace trichoepithelioma

  12. Brooke-Spiegler Syndrome

  13. 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

  14. 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

  15. 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

  16. Differential Diagnosis • Familial cylindromatosis • Multiple familial trichoepithelioma • Rombo syndrome • Vermicular atrophoderma - Milia • Basal cell carcinomas - Hypotrichosis • Peripheral vasodilation/cyanosis - Trichoepitheliomas • Bazex syndrome • Follicular atrophoderma - Hypotrichosis • Basal cell carcinomas - Trichoepitheliomas • Hypohidrosis

  17. 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

  18. 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

  19. 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.

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