June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
2 citations
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January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
April 2024 in “Anais Brasileiros de Dermatologia” 10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
25 citations
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June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
January 2022 in “The Pan African medical journal” Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
2 citations
,
August 2011 in “Revista Medica De Chile” A postmenopausal woman's high testosterone levels and symptoms improved after removing a tumor from her ovary.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
February 2024 in “Cureus” A large scalp tumor was removed from an elderly woman, who was later diagnosed with schizophrenia.
3 citations
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March 2021 in “Cureus” A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
6 citations
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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.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
80 citations
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January 1979 in “Journal of Surgical Oncology” Keratoacanthoma is a common, usually non-dangerous skin tumor that looks like squamous cell carcinoma but rarely becomes severe.
11 citations
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January 1973 in “BMJ” Primary hypothyroidism can mimic pituitary failure but improves with hormone therapy.
7 citations
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January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
February 2026 in “Nature Communications” Inhibiting connective tissue sheath contraction may improve hair growth in male pattern baldness.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
29 citations
,
February 1989 in “Journal of Cutaneous Pathology” A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
47 citations
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June 2016 in “JAMA Dermatology” Men with early hair loss have similar hormone levels to women with PCOS, possibly increasing risk of obesity and heart issues.
11 citations
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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.
December 2017 in “Journal of Cosmetic Dermatology” Researchers found certain genes are overactive and others are underactive in men with early balding, which could help create new treatments.