179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
August 2023 in “Indian journal of pediatrics/Indian Journal of Pediatrics” Topical treatments helped a child with Down syndrome and severe hair loss regrow most of his hair.
4 citations
,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings”
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
1 citations
,
August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
54 citations
,
December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
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.
November 2025 in “Pediatric Dermatology” The boy's hair fully regrew after treatment for a rare hair loss condition.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 12 citations
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March 2011 in “Pediatric dermatology” An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
7 citations
,
January 2011 in “Veterinary Pathology” A horse with severe hair loss was diagnosed with alopecia areata and a yeast infection.
1 citations
,
October 2012 in “The Journal of Dermatology” A Korean girl developed kinky hair without known cause or effective treatment.
26 citations
,
January 2009 in “Annals of Dermatology” Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
81 citations
,
January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
2 citations
,
April 2025 in “Pediatric Dermatology” Macular alopecia is a distinct, non-scarring hair loss pattern that mostly affects young Hispanic/Latinx females and often resolves on its own.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
October 2022 in “Journal of advanced research in medicine” A woman with Sheehan syndrome improved with hormone treatment.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
May 2023 in “Surgical Case Reports” A woman's hair loss improved after removing a tumor in her thymus gland, suggesting hair loss can be linked to such tumors even without a specific muscle weakness condition.