1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
4 citations
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September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
September 2025 in “Clinical Case Reports” Adipose tissue-derived exosomes may help treat lichen planopilaris and preserve hair.
May 2017 in “Journal of the American Academy of Dermatology” Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
16 citations
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February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” Lack of Vitamin D receptor changes skin structure and increases certain immune cells in the skin.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
84 citations
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February 2015 in “Experimental Dermatology” PPARγ is crucial for skin health but can have both beneficial and harmful effects.
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.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
1 citations
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May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
23 citations
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July 2015 in “PubMed” PDGF and its receptors are crucial for stem cell growth and function.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
April 2018 in “Veterinary Pathology” Tigers had a skin condition causing hair loss and inflammation, but the cause is unknown and treatment didn't work.
13 citations
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March 2000 in “Veterinary Dermatology” Dogs have a skin condition like human pseudopelade, causing hair loss that doesn't improve with treatment.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
1 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” Hypothyroidism may worsen metabolic problems like insulin resistance and obesity in women with PCOS.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
5 citations
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July 2013 in “Our Dermatology Online” Lichen planopilaris is the most common type of scarring hair loss observed, with a variety of symptoms and tissue changes.
7 citations
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June 2012 in “Journal of dairy science” Bovine milk fats applied to mouse skin can promote hair growth similar to known hair growth treatments.
67 citations
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December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
May 2023 in “Journal of Cosmetic Dermatology” Being overweight can cause or worsen skin problems in children, some more common in darker skin, and is often linked to insulin resistance.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.