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.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
23 citations
,
January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
3 citations
,
May 2019 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be caused by autoimmune factors, not just stress or malabsorption.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
16 citations
,
June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
3 citations
,
January 2007 in “Korean Journal of Pediatrics” Zinc supplements can help skin issues even if blood zinc levels are normal.
3 citations
,
June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
5 citations
,
October 2012 in “Australian veterinary journal” Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
1 citations
,
October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
5 citations
,
April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
2 citations
,
March 2023 in “3C Empresa Investigación y pensamiento crítico” Alopecia areata patients have higher IFN-γ and low vitamin D3 levels.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
January 2022 in “Clinical Cases in Dermatology” A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
1 citations
,
November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
3 citations
,
June 2025 in “Frontiers in Nutrition” Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.