Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas.
We report a case of Brooke-Spiegler syndrome, a rare autosomal dominant disorder caused by mutations of the cylindromatosis gene (CYLD) tumor suppressor gene resulting in multiple cylindromas and trichoepitheliomas. Treatment of these patients can involve surgical excision, laser therapy, or topical applications of aspirin derivatives.
Doherty
Sean D
SD
Baylor College of Medicine, Houston, Texas, USA.
Barrett
Terry L
TL
Joseph
Aaron K
AK
D000287:Administration, Topical; D001241:Aspirin / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000235:genetics; D001707:Biopsy, Needle; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018280:Carcinoma, Skin Appendage / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D003131:Combined Modality Therapy; D000074749:Deubiquitinating Enzyme CYLD; D005500:Follow-Up Studies; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007150:Immunohistochemistry; D008046:Lip; D008297:Male; D008875:Middle Aged; D015580:Mohs Surgery / Q000379:methods; D009367:Neoplasm Staging; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018570:Risk Assessment; D012535:Scalp; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D016896:Treatment Outcome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D014408:Biomarkers, Tumor; D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD; D001241:Aspirin