26 citations
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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.
6 citations
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July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
18 citations
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January 2020 in “Journal of the European Academy of Dermatology and Venereology” High-potency steroids or tacrolimus are effective treatments for Erosive Pustular Dermatosis of the Scalp.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
October 2023 in “Nepal journal of dermatology, venereology & leprology” The document suggests doctors should watch for bone marrow suppression and severe hair loss in patients treated with Azathioprine.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
19 citations
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.