April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
60 citations
,
January 2007 in “Human Genetics” AR polyglycine repeat doesn't cause baldness.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
June 2022 in “Ramathibodi Medical Journal” Long COVID care improved the patient's mobility, breathing, anxiety, and social relationships.
143 citations
,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
1 citations
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October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
26 citations
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September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
36 citations
,
January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
January 2026 in “International Journal of Dermatology Research” Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.
7 citations
,
August 2019 in “American Journal of Dermatopathology” Frontal fibrosing alopecia on limbs shows permanent inflammatory hair loss, not typical scarring.
384 citations
,
January 2008 in “Journal of Internal Medicine” Mitochondrial dysfunction contributes to ageing by causing DNA mutations and reduced cell function.
November 2012 in “The Journal for Nurse Practitioners” Systemic lupus erythematosus is a complex autoimmune disease mainly affecting women, with varied symptoms and unknown exact cause.
8 citations
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June 2019 in “Orphanet journal of rare diseases” Corticosteroids are the most effective treatment for Satoyoshi syndrome.
July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
January 2026 in “Frontiers in Molecular Biosciences” A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
19 citations
,
January 1991 in “PubMed” Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
2 citations
,
May 2011 in “International Journal of Dermatology” A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
February 2013 in “Journal of the American Academy of Dermatology” 93 citations
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January 2000 in “Annals of Medicine” Mutations in the androgen receptor gene cause various disorders.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
23 citations
,
March 2001 in “Clinics in dermatology” Alopecia areata involves immune response and gene changes affecting hair loss.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
22 citations
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May 2005 in “Journal of the European Academy of Dermatology and Venereology” People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.