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•Brook-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. HistoryHistory 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 ExamPhysical Exam
  • 4. Physical ExamPhysical Exam
  • 5. Physical ExamPhysical Exam
  • 6. Physical ExamPhysical Exam
  • 7. HistopathologyHistopathology
  • 8. HistopathologyHistopathology Scalp cylindroma-spiradenomaScalp cylindroma-spiradenoma
  • 9. HistopathologyHistopathology Scalp cylindromaScalp cylindroma
  • 10. HistopathologyHistopathology Scalp spiradeomaScalp spiradeoma
  • 11. HistopathologyHistopathology Face trichoepitheliomaFace trichoepithelioma
  • 12. Brooke-Spiegler SyndromeBrooke-Spiegler Syndrome
  • 13. Brooke-Spiegler SyndromeBrooke-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 PresentationClinical 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. GeneticsGenetics 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 DiagnosisDifferential 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. PrognosisPrognosis  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. TreatmentTreatment  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. ReferencesReferences  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.