A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids.
A 70-year-old woman sought treatment for confluent flesh-colored papules on all 4 eyelids. Sixteen family members were reported to have similar lesions involving the face and scalp. Initial histopathologic examination of the lesions was interpreted as basal cell carcinoma, but on further review, the lesions were deemed to be consistent with trichoepitheliomas as seen in Brooke-Spiegler syndrome. Cylindromatosis gene mutation analysis confirmed this unique presentation of Brooke-Spiegler syndrome, and revealed a previously unidentified mutation in the cylindromatosis gene.
Department of Ophthalmology, California Pacific Medical Center, University of California, San Francisco, California, USA.
Christian C
CC
Hester
Eve E
EE
Moscato
Dmitry V
DV
Kazakov
Tomás
T
Vanecek
John C
JC
Moretto
Stuart R
SR
Seiff
D000368:Aged; D002280:Basal Cell Carcinoma / Q000175:diagnosis* / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D000074749:Deubiquitinating Enzyme CYLD; D003937:Diagnosis, Differential; D005142:Eyelid Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD