8 citations
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January 2013 in “International journal of trichology” Two people had unusual ring-shaped hair loss due to an autoimmune disorder.
September 2025 in “Acta Dermato Venereologica” Baricitinib can help improve hair loss and skin color issues in people with Down syndrome.
23 citations
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November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
66 citations
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August 1999 in “The Journal of Clinical Endocrinology & Metabolism” Women with acromegaly often have irregular periods due to hormone imbalances and growth hormone effects.
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
February 2026 in “Dove Medical Press (Taylor and Francis Group)” Upadacitinib can effectively regrow hair in alopecia areata patients without worsening sarcoidosis.
1 citations
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July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
17 citations
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January 1998 in “Neurourology and Urodynamics” Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
7 citations
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March 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
1 citations
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October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
5 citations
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
February 2026 in “Reports — Medical Cases Images and Videos” Upadacitinib may help regrow hair in children with alopecia areata and is generally safe.
November 2020 in “Дерматовенерология, косметология” The M-type is the most common form of male hair loss, and the BASP-classification is easy for different medical professionals to use.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.