{"title":"From Collodion Membrane to Alopecia: An Insight Into IFAP/BRESHECK Syndrome.","authors":"Hami Kork, Ömer Cacina, Tuğba Kevser Uzunçakmak, Dilek Uludağ Alkaya, Nilay Güneş, Aynur Islamova, Burhan Engin, Beyhan Tüysüz","doi":"10.1111/pde.70352","DOIUrl":null,"url":null,"abstract":"<p><p>Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genodermatosis characterized by follicular ichthyosis, alopecia, and photophobia; classical X-linked disease is caused by MBTPS2 variants, whereas autosomal dominant forms are associated with SREBF1 variants. The severe IFAP/BRESHECK phenotype may include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal defects, Hirschsprung disease, ear and eye anomalies, cleft palate, cryptorchidism, and kidney abnormalities. We present a 7-year-old male patient with a collodion membrane at birth, severe ichthyosis, alopecia, neurodevelopmental impairment, Hirschsprung disease, limbal stem cell deficiency, and the hemizygous pathogenic MBTPS2 variant NM_015884.4:c.1286G>A (p.Arg429His). This case highlights an uncommon combination of severe manifestations within the MBTPS2-related IFAP/BRESHECK spectrum and emphasizes the importance of multidisciplinary long-term follow-up.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":""},"PeriodicalIF":1.2000,"publicationDate":"2026-10-07","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.70352","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
Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genodermatosis characterized by follicular ichthyosis, alopecia, and photophobia; classical X-linked disease is caused by MBTPS2 variants, whereas autosomal dominant forms are associated with SREBF1 variants. The severe IFAP/BRESHECK phenotype may include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal defects, Hirschsprung disease, ear and eye anomalies, cleft palate, cryptorchidism, and kidney abnormalities. We present a 7-year-old male patient with a collodion membrane at birth, severe ichthyosis, alopecia, neurodevelopmental impairment, Hirschsprung disease, limbal stem cell deficiency, and the hemizygous pathogenic MBTPS2 variant NM_015884.4:c.1286G>A (p.Arg429His). This case highlights an uncommon combination of severe manifestations within the MBTPS2-related IFAP/BRESHECK spectrum and emphasizes the importance of multidisciplinary long-term follow-up.
卵泡性鱼鳞病、秃秃及畏光（IFAP）综合征是一种罕见的遗传性皮肤病，以卵泡性鱼鳞病、脱发和畏光为特征；经典的x连锁疾病是由MBTPS2变异引起的，而常染色体显性疾病则与SREBF1变异有关。严重的IFAP/BRESHECK表型可能包括脑异常、智力残疾、外胚层发育不良、骨骼缺陷、先天性巨结肠疾病、耳眼异常、腭裂、隐睾和肾脏异常。我们报告了一名7岁男性患者，出生时患有胶体膜，严重鱼鳞病，脱发，神经发育障碍，巨鳞病，角膜缘干细胞缺乏症，以及半合子致病性MBTPS2变异NM_015884.4:c。1286 g > A (p.Arg429His)。该病例突出了mbtps2相关IFAP/BRESHECK频谱中罕见的严重表现组合，并强调了多学科长期随访的重要性。
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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