•Brook-Spiegler Syndrome


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•Brook-Spiegler Syndrome

  1. 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. 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. 3. Physical ExamPhysical Exam
  4. 4. Physical ExamPhysical Exam
  5. 5. Physical ExamPhysical Exam
  6. 6. Physical ExamPhysical Exam
  7. 7. HistopathologyHistopathology
  8. 8. HistopathologyHistopathology Scalp cylindroma-spiradenomaScalp cylindroma-spiradenoma
  9. 9. HistopathologyHistopathology Scalp cylindromaScalp cylindroma
  10. 10. HistopathologyHistopathology Scalp spiradeomaScalp spiradeoma
  11. 11. HistopathologyHistopathology Face trichoepitheliomaFace trichoepithelioma
  12. 12. Brooke-Spiegler SyndromeBrooke-Spiegler Syndrome
  13. 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. 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. 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. 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. 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. 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. 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.