January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
1 citations
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January 2013 in “International Journal of Trichology” A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
1 citations
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November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
324 citations
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May 2002 in “Oncogene” 35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
July 2024 in “Indian Journal of Skin Allergy” Patchy hair loss from post-herpetic neuralgia can mimic trichotillomania but requires different treatment.
19 citations
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March 1999 in “PubMed” Trichotillomania is a chronic condition where people uncontrollably pull out their hair, often starting in childhood.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
88 citations
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April 2012 in “Journal of Investigative Dermatology” Blocking TRPV3 may help treat itch in dry skin conditions.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
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.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
1 citations
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January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
10 citations
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February 2013 in “British Journal of Dermatology” Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.
1 citations
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February 2009 in “Clinical and Experimental Dermatology” Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
9 citations
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.