September 2017 in “Journal of Investigative Dermatology” The study found that sweat glands normally suppress immune responses, but this is disrupted in certain skin diseases, possibly contributing to their development.
1 citations
,
July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
12 citations
,
January 2017 in “PubMed” Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.
December 1981 in “Pediatric Research” 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.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
April 2025 in “International Journal For Multidisciplinary Research” A rare ovarian tumor caused early puberty in a 3-year-old girl.
1 citations
,
February 2022 in “Clinical, Cosmetic and Investigational Dermatology” TDM10842, a thyroid hormone receptor activator, was found to effectively promote hair growth in mice.
35 citations
,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
January 2019 in “Revista Dermatológica Centro Uraga” Alopecia triangular temporal is a rare condition with unclear causes and treatment, but trichoscopy helps in diagnosis.
75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” 27 citations
,
February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
April 2024 in “DAHUDER Medical journal” The study concluded that there is no significant link between thyroid autoimmunity and alopecia areata.
23 citations
,
November 2024 in “Nature” June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
2 citations
,
August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
March 2012 in “Journal of The American Academy of Dermatology” Temporal triangular alopecia usually starts in early childhood and treatment with Minoxidil has limited effectiveness.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
54 citations
,
November 1986 in “Journal of the American Academy of Dermatology” Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.