128 citations
,
March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
13 citations
,
June 2020 in “International Journal of Dermatology” A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
2 citations
,
December 2017 in “Skin appendage disorders” An elderly man's non-healing scalp lesion was successfully treated with a strong topical steroid.
1 citations
,
January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
38 citations
,
August 2005 in “Veterinary dermatology” A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
2 citations
,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
7 citations
,
January 2011 in “Veterinary Pathology” A horse with severe hair loss was diagnosed with alopecia areata and a yeast infection.
November 2023 in “International Journal of Trichology” Alopecia areata may be linked to kidney issues, but more research is needed.
June 2026 in “Quality in Sport” CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
4 citations
,
May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
7 citations
,
January 1971 in “Archives of Dermatological Research”
An infant with a zinc deficiency skin disorder improved with zinc treatment.
1 citations
,
January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
10 citations
,
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.
55 citations
,
December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.