{"title":"A 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.","authors":"Sirisha Varala, Sravani Kapilavayi, Surekha Challa, Rubika Rajagopal, Venkata Krishna Ananthula","doi":"10.1111/pde.15769","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2000,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/pde.15769","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.
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