29 citations
,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
2 citations
,
August 1999 in “PubMed”
42 citations
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September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
July 2023 in “Nasza Dermatologia Online” More research is needed on CCCA in children, especially Black and Asian adolescents.
24 citations
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March 1996 in “Postgraduate Medical Journal” Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
January 2026 in “Dermatology Online Journal” CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
April 2023 in “Research Square (Research Square)” A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
July 1998 in “Annals of saudi medicine/Annals of Saudi medicine” A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
173 citations
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November 2004 in “Seminars in Reproductive Medicine” Adrenarche increases adrenal androgens around age 6, affecting hair growth and development.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
2 citations
,
January 1986 in “Dermatology” A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
January 1983 in “Journal of the Japan Veterinary Medical Association” Daily treatment eventually improved the dog's symptoms.
April 2016 in “Journal of The American Academy of Dermatology” Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
1 citations
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December 2019 in “Medical Journal of Dr D Y Patil Vidyapeeth” A rare adrenal gland tumor can cause unusual symptoms due to hormone changes.
April 2021 in “Sri Lanka Journal of Diabetes Endocrinology and Metabolism” Giant pituitary macroadenomas causing Cushing disease are rare and may need extra treatment if surgery fails.