4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
10 citations
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April 2003 in “Clinical neurology and neurosurgery” Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
3 citations
,
January 2022 in “JAAD Case Reports” Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
August 2022 in “Precision Clinical Medicine” JAM-A helps hair regrowth in alopecia areata by protecting VCAN in skin cells.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
7 citations
,
January 2013 in “Hormone Research in Paediatrics” Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
July 2022 in “medRxiv (Cold Spring Harbor Laboratory)” Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
October 2023 in “Perinatology and reproductology from research to practice” Combining medication for dyslipidemia and insulin resistance with basic therapy improves outcomes for alopecia areata with metabolic syndrome.
July 2019 in “Dermatology practical & conceptual” The study found that alopecia areata is strongly linked to autoimmune diseases and may indicate a genetic predisposition to such conditions.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
18 citations
,
May 2017 in “Experimental Dermatology” AMT may cause hair loss and changing dWAT activity could help treat it.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
2 citations
,
January 1997 in “Archives of Dermatology” Alopecia areata can regrow hair in a pattern similar to androgenetic alopecia.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
13 citations
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January 2011 in “International Journal of Trichology” CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
23 citations
,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Genetic discoveries are leading to new treatments for alopecia areata.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
8 citations
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December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mouse models help understand alopecia areata and find treatments.
5 citations
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February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.