3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
April 1977 in “Pediatric Research”
6 citations
,
February 2010 in “Journal of The American Academy of Dermatology” A woman had a rare skin condition with recurring painful nodules that heal in 6 weeks, often without needing treatment.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
19 citations
,
January 2018 Most people with alopecia areata have nail changes, which are common but don't greatly affect their quality of life.
185 citations
,
August 2005 in “Autoimmunity Reviews” Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.
October 2024 in “BMJ Case Reports” Baricitinib effectively treats both rheumatoid arthritis and alopecia areata.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
10 citations
,
November 2024 in “Nature Reviews Cardiology” Skin conditions can signal heart issues, highlighting the need for integrated care.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
Higher EULAR/ACR scores in SLE patients predict more organ damage.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
15 citations
,
April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
1 citations
,
May 2026 in “Journal of Dermatological Treatment” JAK1 inhibitor may effectively treat alopecia areata when TNF-α inhibitors and corticosteroids fail.
71 citations
,
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.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
October 2025 in “Frontiers in Pharmacology” Arctium lappa L. might help treat immune-related skin diseases, but more research is needed.
45 citations
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January 2018 in “International Journal of Dermatology” Nail problems are common in people with alopecia areata, often leading to cosmetic and functional issues, but more research is needed for treatment guidelines.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
2 citations
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June 2003 in “International Journal of Acarology” Researchers found a new mite species causing severe hair loss and skin problems in yellow-bellied marmots.
April 2025 in “Anais Brasileiros de Dermatologia” Abrocitinib effectively treats severe alopecia areata with significant improvement and no side effects.
17 citations
,
January 2003 in “Skinmed” Athletes can experience various skin injuries from physical activity and environmental factors, and performance-enhancing drugs can also negatively affect their skin.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
July 2025 in “Clinical Dermatology Review” Azathioprine can cause unexpected hair loss and severe bone marrow issues, so careful monitoring is needed.