Presented by: John Durkin, MD and Herbert Allen, MD
Drexel University College of Medicine
May 16, 2016
Brooke-Spiegler syndrome (BSS) is a rare, autosomal dominant hereditary disease with variable penetration that predisposes patients to tumors derived from various skin appendages. The associated tumors include spiradenomas, trichoepitheliomas, and cylindromas. The onset is in early adulthood, with females more severely affected than males. These tumors can increase in size and number with age and can cause significant psychological distress and social stigma. Phenotypic presentations vary with an identical gene mutation in a single family. These tumors are usually benign, although they may rarely become malignant.
BSS is caused by a mutation in the CYLD gene, a tumor suppressor gene acting on nuclear factor-kappa-B (NF-κB). Patients with BSS are born with a mutation in one of the two copies of the CYLD gene. When only one copy is affected, the normal copy can usually make enough CYLD protein to suppress tumor formation. However, being born with one mutation increases one’s risk of having an acquired mutation of the other copy. When both copies of the gene are affected in a certain cell type, a patient with BSS can develop tumors in the corresponding tissue.
Diagnosis of BSS is made on clinical findings, positive family history as well as skin biopsy and histopathological patterns. Because tumors of BSS can resemble basal cell carcinoma and family history is not always present, skin biopsy is needed to confirm the diagnosis.
Surgical excision has been the traditional mode of treatment for BSS. Due to the rarity of the disease, only a few other managements have been proposed in the literature. In one case study CO2 laser for multiple trichoepitheliomas has been shown to be effective, although not curative. A single subject case study compared ablative fractionated resurfacing, photodynamic therapy and topical imiquimod in treating trichoblastomas in BSS. A combination of resurfacing and PDT was shown to have a slightly superior result. Other treatment modalities such as electrosurgery, cryosurgery and ablation with neodymium: YAG laser have also been documented.
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