[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-444884-105":59,"doc-detail-444884-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","skin-fragility-woolly-hair-syndrome-sfwhs-a-case-report","Skin Fragility-Woolly Hair Syndrome (SFWHS) - A Case Report","","Skin fragility, palmoplantar keratoderma, and characteristic woolly hair define skin fragility-woolly hair syndrome (SFWHS), an extremely rare inherited disorder. Classified among desmosomal disorders, it reflects impaired structural integrity of skin and hair due to compromised desmosome function. Affected individuals commonly develop hair fragility, fragile skin with recurrent erosions, nail abnormalities, and variable palmoplantar thickening starting in early childhood. This case report describes a patient with this rare syndrome.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/skin-fragility-woolly-hair-syndrome-sfwhs-a-case-report/444884/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/skin-fragility-woolly-hair-syndrome-sfwhs-a-case-report/444884.png","ImageObject",300,407,{"name":92,"@type":93},"pop out","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-28","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":34},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What are the hallmark clinical features of SFWHS?","Question",{"text":112,"@type":113},"SFWHS is defined by skin fragility, palmoplantar keratoderma, and characteristic woolly hair. Patients may also show fragile skin with recurrent erosions and nail abnormalities.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How is the diagnosis of SFWHS supported in this case?",{"text":117,"@type":113},"Whole-exome sequencing identified a homozygous likely pathogenic DSP gene variant. The findings are consistent with an autosomal recessive diagnosis of SFWHS.",{"name":119,"@type":110,"acceptedAnswer":120},"What cardiac involvement was found for the patient?",{"text":121,"@type":113},"At presentation, there were no cardiac symptoms. Echocardiography showed normal cardiac anatomy with a preserved ejection fraction of 73%.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},444884,1791361737,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":34,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":24,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962090760408,"https://ap-avatar.wpscdn.com/davatar_085a072bc5b1113ac321206ff7593b45","Review began 12/17/2025  \nReview ended 12/30/2025  \nPublished 01/06/2026  \n© Copyright 2026  \nAlmousa et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CCBY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited.  \nDOI: 10.7759/cureus.100931  \nOpen Access Case Report  \nSkin Fragility-Woolly Hair Syndrome (SFWHS) : A Case Report  \nAhmed Almousa 1, Saud Binsufayan 1 , Mohammad K. Almazied 1, Tasneem Aldraye 2, Saud Alsharif 3  \n1. Dermatology, Security Forces Hospital, Riyadh, SAU 2. Pediatrics, Security Forces Hospital, Riyadh, SAU 3. Dermatology, Imam Mohammad Ibn Saud Islamic University, Riyadh, SAU  \nCorresponding author: Mohammad K. Almazied, [mk.allmazied@gmail.com](mk.allmazied@gmail.com)  \nAbstract  \nSkin fragility, palmoplantar keratoderma, and characteristic woolly hair are defining features of skin fragility-woolly hair syndrome (SFWHS), an extremely rare inherited disorder. This condition is classified within the group of desmosomal disorders, which are associated with compromised structural integrity of the skin and hair. Clinically, affected individuals often present with hair fragility, fragile skin, recurrent erosions, nail abnormalities, and varying degrees of palmoplantar thickening beginning in early childhood. In this case report, we describe a patient with this extremely rare syndrome.  \nCategories: Genetics, Dermatology  \nKeywords: dsp mutation, nail abnormalities, palmoplantar keratoderma, skin fragility-woolly hair syndrome (sfwhs), woolly hair  \nIntroduction  \nSkin fragility, palmoplantar keratoderma, and characteristic woolly hair are the hallmarks of the extremely rare inherited disorder skin fragility-woolly hair syndrome (SFWHS) . This condition belongs to the group of desmosomal disorders, which are characterized by disruptions in the integrity of the skin and hair. The DSP (desmoplakin) gene, which encodes desmoplakin, is a key component of desmosomes, anchoring intermediate filaments and maintaining intercellular cohesion, and is among the most frequently implicated genes. Mutations in DSP, particularly those inherited in an autosomal recessive manner, compromise this structural framework, leading to the distinctive phenotype [1-3].  \nIn dermatology, DSP mutations are mainly associated with two syndromes: Carvajal syndrome, which involves mutations in the C-terminal tail of DSP and affects both the skin and heart, and SFWHS, first described in 2011, caused by mutations in the N-terminal head of DSP. SFWHS is similar to Carvajal syndrome but is limited to cutaneous manifestations [1] . Herein, we report a case of SFWHS.  \nRecent advances in genomic technologies have enabled early recognition of DSP mutations, including those leading to cutaneous-limited and cardio-cutaneous syndromes. Early identification of DSP mutations allows physicians to anticipate extracutaneous involvement, arrange appropriate follow-up, and implement early interventions. Furthermore, genetic counseling can help prevent these syndromes in families carrying recessive DSP mutations [1-3].  \nCase Presentation  \nA six-year-old boy, born full-term via normal vaginal delivery with no history of neonatal intensive care unit admission or developmental delay, presented to the clinic with a history of recurrent erosions and blisters involving the palms and soles since the age of one year. He was born to consanguineous parents who are medically healthy with no similar symptoms or medical conditions, and he has one older brother, aged 10 years, who is also medically well and does not exhibit similar symptoms. On physical examination, diffuse palmoplantar keratoderma was observed over the palms and soles, accompanied by woolly hair, subungual hyperkeratosis, and onychogryphosis, as shown in Figure 1.  \nHow to cite this article  \nAlmousa A, Binsufayan S , Almazied M K, et al. (January 06 , 2026)","cbCairigVoDNvmru","https://ap.wps.com/l/cbCairigVoDNvmru","pdf",2383141,"English","# Abstract\n# Introduction\n# Case Presentation\n# How to cite this article\n# Discussion","[{\"question\":\"What are the hallmark clinical features of SFWHS?\",\"answer\":\"SFWHS is defined by skin fragility, palmoplantar keratoderma, and characteristic woolly hair. Patients may also show fragile skin with recurrent erosions and nail abnormalities.\"},{\"question\":\"How is the diagnosis of SFWHS supported in this case?\",\"answer\":\"Whole-exome sequencing identified a homozygous likely pathogenic DSP gene variant. The findings are consistent with an autosomal recessive diagnosis of SFWHS.\"},{\"question\":\"What cardiac involvement was found for the patient?\",\"answer\":\"At presentation, there were no cardiac symptoms. Echocardiography showed normal cardiac anatomy with a preserved ejection fraction of 73%.\"}]","Skin Fragility-Woolly Hair Syndrome (SFWHS) - A Case Report | PDF",1790709615,13]