Brooke-Spiegler syndrome with associated pegged teeth

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder.
• It is characterized by the triad of cylindromas, trichoepitheliomas, and spiradenomas, all tumors with adnexal differentiation.
• Malignant transformation, though rare, can occur, necessitating timely surgical intervention.

Observation:

• This report details a patient with BSS presenting with an unusual manifestation: pegged teeth.
• This dental anomaly has not been previously documented in the medical literature for BSS patients.
• The patient's genetic testing revealed mutations in the cylindromatosis gene (CYLD).

Findings:

• The study confirms the characteristic triad of BSS tumors.
• It highlights the novel association of pegged teeth with BSS.
• Genetic analysis identified mutations in the CYLD gene, consistent with BSS etiology.

Implications:

• The findings expand the known clinical spectrum of Brooke-Spiegler syndrome.
• This case underscores the importance of comprehensive patient evaluation, including dental assessment.
• Further research into the CYLD gene and its role in BSS may reveal new therapeutic targets.