TLDR The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
Hereditary mucoepithelial dysplasia (HMD) was a rare, autosomal dominant multisystem disease caused by abnormalities in desmosomes and gap junctions, affecting the skin, mucosae, hair, eyes, and lungs. Patients typically exhibited non-scarring alopecia, mucosal erythema, and erythematous intertriginous plaques. While histopathological findings in mucous membrane epithelium were well documented, only three reports had described skin findings. This study reported a case with unique histopathological skin findings not previously documented in HMD.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
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January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
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July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
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January 2016 in “Elsevier eBooks” The skin is the largest organ, protecting the body, regulating temperature, and producing hormones.
3 citations
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January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
