4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
November 2018 in “Endocrine Abstracts” A woman's high testosterone levels were caused by a rare ovarian tumor, not the initially diagnosed condition.
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
32 citations
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September 2017 in “Journal of the American Academy of Dermatology” Oral isotretinoin effectively treats yellow facial papules in frontal fibrosing alopecia patients.
11 citations
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August 2000 in “Journal of Endocrinology” DHEA acts like a male hormone on rat skin glands and doesn't turn into female hormones there.
8 citations
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January 2018 in “European journal of dermatology/EJD. European journal of dermatology” The girl's regrown brown hair had less of certain pigments than her original black hair.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
June 2020 in “Journal of Investigative Dermatology” FDA-cleared devices often fail to produce high-quality platelet-rich plasma consistently.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
4 citations
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May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
13 citations
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September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
October 2024 in “Journal of the Endocrine Society” Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
December 2009 in “Pediatrics in review” A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
January 2026 in “Brazilian Journal of Development” Early diagnosis and surgery can improve symptoms of ovarian hyperthecosis in postmenopausal women.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
70 citations
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January 2000 in “Hormone Research in Paediatrics” SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.