Year: 2025
Type: article
Study design: Case Report
Abstract: A 12-year-old female presented with multiple milia and skin-coloured papules over face and neck, follicular atrophoderma and hypotrichosis. Family history of similar complaints present in mother and maternal aunt. Biopsy from the skin-coloured papule revealed trichoepithelioma. Multiple milia, hypotrichosis and follicular atrophoderma favour the diagnosis of Bazex-Dupre-Christol syndrome (BDCS) which is an X-linked dominant genodermatosis with BCCs developing later in life. Other conditions with multiple BCCs and milia like Gorlin syndrome, Oley syndrome and Rombo syndrome should be differentiated. Follicular atrophoderma and hypotrichosis with X-linked dominant inheritance favour the diagnosis of BDCS. Management should focus on identifying BCCs at the earliest and genetic counselling.
Source: Pediatric Dermatology
DOI: 10.1111/pde.15769
Authors: Sirisha Varala, Sravani Kapilavayi, Surekha Challa, Rubika Rajagopal, Venkata Krishna Ananthula
Institution: Osmania Medical College
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4408245452