This syndrome is caused by a mutation in the tumor suppressor gene CYLD, which is located on the 16q chromosome. Currently, there are 68 known mutations associated with Brooke-Spiegler syndrome.
Two similar conditions, familial cylindromatosis and multiple familial trichoepithelioma, are also caused by mutations in the CYLD gene, and given their overlapping clinical features, are considered phenotypic variants of Brooke-Spiegler syndrome. In familial cylindromatosis, affected patients develop only cylindromas, and in multiple familial trichoepithelioma, patients exclusively develop trichoepitheliomas.
D23.9 – Other benign neoplasm of skin, unspecified
703531009 – Brooke-Spiegler Syndrome
Differential Diagnosis & Pitfalls
- Blue rubber bleb
- Dercum disease
- Glomus tumor
- Granular cell tumor
- Arsenic exposure – Can result in multiple basal cell carcinomas, which may mimic cylindromas and trichoepitheliomas.
- Basal cell nevus syndrome – Basal cell carcinomas may mimic cylindromas and trichoepitheliomas.
- Bazex-Dupré-Christol syndrome – Can present with multiple trichoepitheliomas.
- Cowden syndrome – Can present with multiple trichilemmomas, which may mimic trichoepitheliomas.
- Milia – Milia may mimic trichoepitheliomas.
- Neurofibromatosis – Multiple cylindromas may mimic neurofibromatosis.
- Rombo syndrome – Can present with multiple trichoepitheliomas.
- Tuberous sclerosis – Can present with angiofibromas, which may mimic trichoepitheliomas.