A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids.

Abstract

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.

• Authors: Christian C Hester, Eve E Moscato, Dmitry V Kazakov, Tomás Vanecek, John C Moretto, Stuart R Seiff
• Journal: Ophthalmic plastic and reconstructive surgery (Ophthalmic Plast Reconstr Surg) Vol. 29 Issue 1 Pg. e10-1 ( 2013) ISSN: 1537-2677 [Electronic] United States
• PMID: 22689134 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Tumor Suppressor Proteins
• CYLD protein, human
• Deubiquitinating Enzyme CYLD

Topics

• Aged
• Carcinoma, Basal Cell (diagnosis, genetics)
• Chromosomes, Human, Pair 16 (genetics)
• Deubiquitinating Enzyme CYLD
• Diagnosis, Differential
• Eyelid Neoplasms (diagnosis, genetics)
• Female
• Frameshift Mutation
• Germ-Line Mutation
• Humans
• Neoplastic Syndromes, Hereditary (diagnosis, genetics)
• Pedigree
• Skin Neoplasms (diagnosis, genetics)
• Tumor Suppressor Proteins (genetics)