September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
5 citations
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October 2012 in “Veterinary Pathology” A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
January 2023 in “Indian Dermatology Online Journal” Two newborns with rare skin infections were successfully treated with antifungal cream.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
3 citations
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December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
2 citations
,
May 1991 in “PubMed” Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
January 2006 in “International water power & dam construction” Nevus comedonicus can appear later in life and affect both eyelids.
17 citations
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April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
April 2023 in “The Medical Journal of Australia” A five-year-old girl has a harmless, unchanging bald patch on her scalp.
3 citations
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September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
January 2023 in “Indian dermatology online journal” Leukemia can sometimes appear as unusual skin issues in children.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
56 citations
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December 1978 in “The Journal of Dermatologic Surgery and Oncology” Transplanting small skin grafts can successfully repigment leukoderma.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
November 2021 in “CRC Press eBooks” Hair color is determined by melanin and can be affected by genetic conditions like albinism.