2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
19 citations
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November 1985 in “Archives of Dermatology” The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
The Breast Utility Instrument was developed to assess quality of life in breast cancer patients.
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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November 2010 in “Pediatric dermatology” An 11-month-old girl has no scalp or body hair, and the cause is being studied.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
August 2019 in “Anais Brasileiros de Dermatologia” May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
November 2022 in “Journal of the Endocrine Society” Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
August 2021 in “Clinical and Experimental Dermatology” Children under 10 can experience hair thinning without hormone issues, and it may improve with treatment.
October 2024 in “Journal of the Endocrine Society” Bilateral salpingo-oophorectomy resolved hyperandrogenism in a postmenopausal woman with rare ovarian tumors.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
August 2025 in “Journal of Pediatric Endocrinology and Metabolism” A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
December 1990 in “Indian Journal of Dermatology Venereology and Leprology” Topical minoxidil and hair dye can improve hair density and appearance in congenital hypotrichosis.
May 2026 in “Annals of Internal Medicine Clinical Cases” Leydig cell tumors can cause hormone issues in postmenopausal women even if imaging looks normal.
30 citations
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October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
November 2021 in “Khyber Medical University Journal” A rare ovarian tumor caused a postmenopausal woman to develop male-like features, which improved after surgery.
November 2022 in “Journal of the Endocrine Society” A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
January 2024 in “ACTA SCIENTIAE VETERINARIAE” An epidermoid cyst in a dog's mammary gland is rare and benign.
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.