•brook-spiegler syndrome
TRANSCRIPT
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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
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HistoryHistory
39 year-old, healthy, Caucasian maleMultiple lesions on face and scalp
beginning at 10 years oldNonpainful, nonpruriticPrevious paranasal biopsy consistent
with trichoepitheliomaMother with similar presentation
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Physical ExamPhysical Exam
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Physical ExamPhysical Exam
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Physical ExamPhysical Exam
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Physical ExamPhysical Exam
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HistopathologyHistopathology
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HistopathologyHistopathologyScalp cylindroma-spiradenoma Scalp cylindroma-spiradenoma
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HistopathologyHistopathologyScalp cylindromaScalp cylindroma
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HistopathologyHistopathologyScalp spiradeomaScalp spiradeoma
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HistopathologyHistopathologyFace trichoepitheliomaFace trichoepithelioma
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Brooke-Spiegler SyndromeBrooke-Spiegler Syndrome
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Brooke-Spiegler SyndromeBrooke-Spiegler Syndrome
Uncommon syndrome with autosomal dominant inheritance pattern
Variable expression and penetranceMore severe phenotype in womenMutiple cutaneous adnexal neoplasmsCylindromas, spiradenomas,
trichepitheliomas on head and neck
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Clinical PresentationClinical PresentationBegins during second or third decadeCylindromas, spiradenomas on scalp ‘Turban tumors’ when numerousTrichoepitheliomas more
common on faceProgressive increase in size and
number
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GeneticsGenetics
Autosomal dominant mutation affecting epidermal appendages
CYLD gene on chromosome 16q12-q13CYLD functions as a tumor suppresorCYLD inhibits NF-κB transcription factor
in the TNF-α signaling pathway, regulating cell growth
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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
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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
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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
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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.