Multiple trichoepitheliomas--a novel mutation in the CYLD gene

Area of Science:

• Genetics
• Dermatology
• Oncology

Background:

• Trichoepitheliomas are benign neoplasms with follicular differentiation.
• Multiple trichoepitheliomas often present as an inherited autosomal dominant condition.
• Mutations in the CYLD gene are implicated in multiple trichoepitheliomas, familial cylindromatosis, and Brooke-Spiegler syndrome.

Observation:

• A case report of a 9-year-old African girl with multiple facial trichoepitheliomas.
• Hypothesis of a CYLD gene mutation as the underlying cause.

Findings:

• Genomic DNA was extracted and analyzed for CYLD gene mutations.
• A novel heterozygous mutation, c.2449delT, was identified in exon 18 of the CYLD gene.
• This mutation leads to a premature translational termination codon (p.Cys817Valfs X15).

Implications:

• The findings support that trichoepitheliomas, familial cylindromatosis, and Brooke-Spiegler syndrome may represent phenotypic variations of a single disease spectrum.
• Shared genetic mutations, like those in the CYLD gene, underpin these related conditions.
• Understanding these genetic links can refine diagnosis and potentially guide future therapeutic strategies.