Clinical and Diagnostic Features of Steatocystoma Multiplex: A Case Series of a Rare Condition
Year: 2025
Type: article
Abstract: Steatocystoma Multiplex (SC) is a rare genetic disorder characterized by cystic lesions within the dermis, originating from sebaceous glands. Despite established clinical and morphological criteria, diagnosis can be challenging due to the condition’s rarity. This study reviews six cases diagnosed in a medical institution in Uttarakhand. Most patients presented with symptom onset in adolescence. Although family history was generally absent, associations with pachyonychia congenita (PC) suggest shared genetic factors. Patients presented with painful and itchy cysts. Histopathological findings consistently revealed multiple thin-walled cysts with sebaceous glands. Immunohistochemistry (IHC) for cytokeratin and EMA confirmed the diagnosis. The study highlights the significance of early recognition, thorough clinical assessment, and a multidisciplinary approach to management, emphasizing their crucial role in ensuring effective care and achieving improved outcomes in SC.
Source: JK Science
Authors: Gurtej Singh, Swati Pundir, Ghazala Rizvi, Srijan Srivastav
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7090061088
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