Steatocystoma multiplex - A rare case report

Abstract

Steatocystoma multiplex is a rare inherited condition characterized by the development of numerous hamartomatous cystic lesions originating from the pilosebaceous duct junction, usually manifesting at puberty. It follows an autosomal dominant inheritance pattern and presents clinically with multiple asymptomatic cysts, primarily in areas with a high concentration of pilosebaceous glands such as the groin, axilla, and scrotum. The lesions typically appear as skin-colored or yellowish papules. A 19-year-old male presented with multiple papular lesions on his neck for 1.5 years, which later spread to his lower back and left scapular region. Physical examination revealed well-defined, round to oval dermal cysts, varying in size from 5 to 7 cm, without a family history of similar conditions. Suspecting steatocystoma multiplex, Fine Needle Aspiration Cytology (FNAC) and biopsy were performed. FNAC revealed an oily material with squamous cells, and the biopsy showed cysts lined by keratinized stratified squamous epithelium with sebaceous glands near the cyst wall, confirming the diagnosis. Steatocystoma multiplex, first described in 1873 and named by Pringle in 1899, is linked to mutations in the Keratin 17 (K17) gene and usually affects individuals in their second and third decades. The condition is benign but often causes cosmetic concerns, leading to patient treatment-seeking behavior. Early diagnosis and intervention are crucial in reducing the psychological impact of the disease. This case is noteworthy due to the rare occurrence of steatocystoma multiplex in the head and neck region.