December 2025 in “Journal of Human Immunity” JAK inhibitors may help improve symptoms in adults with APECED.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
13 citations
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January 2021 in “The American journal of gastroenterology” Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
Aged Julia Creek dunnarts suffer from reproductive and hormonal issues, aiding conservation efforts.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
15 citations
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November 2020 in “Development” Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
6 citations
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January 2017 in “International Journal of Dermoscopy” Dermoscopy is useful for early diagnosis and monitoring of nail diseases.
1 citations
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October 2023 in “Journal of the Pakistan Medical Association” Folliculotropic mycosis fungoides can occur in children and is diagnosed with specific tests, but often stays in early stages with treatment.
1 citations
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August 2025 in “Journal of Human Immunity” Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
7 citations
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September 2011 in “International Journal of Dermatology” The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
5 citations
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July 2009 in “Clinical and experimental dermatology” May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
16 citations
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June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
14 citations
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June 2013 in “Anais Brasileiros de Dermatologia” Follicular red dots may be a normal feature seen in people with less skin pigmentation, not necessarily indicating a scalp disorder.
1 citations
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January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
January 2025 in “Indian Journal of Paediatric Dermatology” Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
2 citations
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December 2013 in “Veterinary dermatology” Three dogs with a rare skin condition improved with treatment.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
July 1974 in “Archives of dermatology” The woman's widespread skin condition did not improve despite various treatments.
9 citations
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August 2002 in “Current Opinion in Pediatrics” An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
3 citations
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August 2024 in “Skin Research and Technology” LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.
232 citations
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July 1995 in “Nature Genetics” 1 citations
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September 2022 in “Canadian Journal of Ophthalmology” Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.