October 2022 in “International journal of dermatology and venereology” A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
4 citations
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January 2025 in “The Journal of Cell Biology” Ceramide Synthase 4 is crucial for maintaining hair follicle stem cells and preventing hair loss.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
October 2025 in “Skin Research and Technology” September 1978 in “PubMed” Chondroitin sulphate is more abundant than hyaluronic acid in skin and hair samples, except in gamma-keratosis.
14 citations
,
September 1983 in “Acta Dermato Venereologica” Citral increases sebaceous gland activity in male rats.
2 citations
,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
2 citations
,
November 1973 in “PubMed” Sulfur-35 can be used to track hair growth and past exposure.
1 citations
,
October 2018 in “The American journal of gastroenterology” Relapsing hepatitis A can cause prolonged abnormal liver tests even without symptoms.
7 citations
,
June 2018 in “Journal of the American Academy of Dermatology” The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
72 citations
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
March 2023 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib helped most alopecia areata patients regrow hair by Week 48.
July 2020 in “Benha Journal of Applied Sciences” Young men with early hair loss and high SAA3 levels are at higher risk for heart disease.
11 citations
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October 2018 in “Pediatric dermatology” Leflunomide and anthralin may effectively treat severe alopecia areata.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Upadacitinib effectively treats severe alopecia areata and is safe.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
32 citations
,
July 2003 in “Annals of the Rheumatic Diseases” A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
6 citations
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September 2021 in “Autophagy” Autophagy prevents early aging and maintains lipid and pheromone balance in mouse glands.
April 1940 in “Archives of dermatology” Diagnosing and treating skin conditions is challenging, especially when drug reactions mimic other diseases.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
May 2025 in “The Journal of Rheumatology” Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
August 2023 in “Fermentation” Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
75 citations
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March 2018 in “Molecules/Molecules online/Molecules annual” L-Cysteine may have health benefits, but its effectiveness is still debated due to limited clinical trial data.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.