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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

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
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
brooke spiegler syndrome13
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
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
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
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
prognosis
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
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
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.