5 citations
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September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
36 citations
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January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
March 2014 in “Journal of the American Academy of Dermatology” Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
23 citations
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October 2024 in “British Journal of Dermatology” Ritlecitinib effectively treats alopecia areata and is safe for long-term use in people 12 and older.
October 2013 in “DOAJ (DOAJ: Directory of Open Access Journals)” 5 citations
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January 2025 in “Science Advances” 5α-reductase 2 is crucial for stress response in male rats.
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplementation effectively treats acrodermatitis enteropathica symptoms.
26 citations
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March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
February 2026 in “International Journal of Homoeopathic Sciences” Homeopathic treatment with Arsenicum album improved keratosis pilaris symptoms in one case.
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.
2 citations
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August 1999 in “PubMed”
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
2 citations
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October 2013 in “Journal of Veterinary Internal Medicine” Sweat hypersensitivity can cause severe skin issues in horses.
January 2025 in “Dermatology Review” Acitretin may cause salivary gland inflammation.
January 2020 in “International journal of scientific and research publications” Lower SOD enzyme levels are linked to more severe hair loss in men.
1 citations
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December 2017 in “Research for Rural Development/Research for Rural Development (Online)” Neutered ferrets often develop hyperadrenocorticism, with symptoms like hair loss and lethargy, and androstenedione is a key indicator for diagnosis.
5 citations
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October 2024 in “Reumatismo” Upadacitinib significantly improved alopecia universalis and psoriatic arthritis in a patient.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
December 1981 in “Pediatric Research” 1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
11 citations
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February 2012 in “Pediatrics in Review” Early and aggressive treatment with individualized care plans is crucial for managing pediatric systemic lupus erythematosus.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
January 2021 in “Pediatric Oncall” Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
October 2022 in “International journal of research in dermatology” A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
September 2025 in “Indian Journal of Child Health” Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.