Steatocystoma multiplex-natal teeth syndrome

Steatocystoma multiplex-natal teeth syndrome is an extremely rare genetic disorder characterized by the combination of steatocystoma multiplex (multiple sebaceous cysts of the skin) and natal teeth (teeth present at birth). Steatocystoma multiplex involves the development of numerous small, smooth, yellowish or skin-colored cystic nodules in the skin, typically located on the trunk, arms, and other areas rich in sebaceous glands. These cysts are filled with an oily or creamy substance derived from sebaceous glands. Natal teeth, which are teeth already erupted at the time of birth, represent the other hallmark feature of this syndrome. The condition primarily affects the skin (integumentary system) and the dental/oral system. This syndrome has been reported in a very limited number of families in the medical literature. The steatocystomas typically become more apparent during adolescence or early adulthood, while the natal teeth are evident at birth. The natal teeth may be loose and may require extraction to prevent aspiration risk in the newborn. Additional features that have been reported in some cases include pachyonychia (thickened nails) and other ectodermal abnormalities. The condition has been linked to mutations in the KRT17 gene, which encodes keratin 17, a protein important in the development of skin appendages, hair follicles, and nails. This places the syndrome within the spectrum of keratin disorders related to pachyonychia congenita. Treatment is primarily symptomatic and supportive. Management of steatocystomas may include surgical excision, incision and drainage, or laser therapy for cosmetically bothersome cysts. Natal teeth are managed by a pediatric dentist, with extraction considered if they are supernumerary or pose a risk of aspiration. There is currently no cure for the underlying genetic condition, and long-term follow-up with dermatology is recommended for ongoing management of skin cysts.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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