7 citations
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January 2015 in “Case reports in endocrinology” The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
4 citations
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August 2021 in “Pediatric dermatology” Biotin, alone or with minoxidil, effectively treats short anagen syndrome.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
December 2025 in “American Journal of Case Reports” Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Hyperthyroidism can hide signs of high androgen levels in females.
2 citations
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March 1986 in “BMJ”
January 2026 in “Journal of Clinical Practice and Research” Bitemporal alopecia often occurs with other hair conditions and can help predict and monitor these issues.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
January 2026 in “Biochemical Pharmacology”
2 citations
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July 2015 in “Case Reports in Dermatology” DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
24 citations
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March 1996 in “Postgraduate Medical Journal” Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
1 citations
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January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
1 citations
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October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
6 citations
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August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
1 citations
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July 2022 in “Indian Journal of Dermatology” Bullous pyoderma gangrenosum can develop on cesarean scars and may require steroids for treatment.
4 citations
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April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.