October 2023 in “Dermatology practical & conceptual” Folliculitis Decalvans and Frontal Fibrosing Alopecia can coexist in people with darker skin, showing features of both conditions.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
June 2025 in “Albus Scientia” MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
10 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
February 2024 in “Acta dermato-venereologica” This type of hair loss is probably often missed and treatments reducing inflammation might work well.
Accurate diagnosis is crucial for effective treatment of similar hair loss conditions.
2 citations
,
May 2023 in “Veterinary Pathology” Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
36 citations
,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
1 citations
,
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Ulcerative colitis involves immune activation, chronic inflammation, and metabolic issues, some of which persist even during remission.
30 citations
,
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.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
19 citations
,
October 2016 in “Journal of oncology pharmacy practice” A cancer patient's hair became permanently curly after treatment with nivolumab.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
467 citations
,
October 2014 in “European Journal of Endocrinology” The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
1 citations
,
October 2022 in “PubMed” Gender affects wool traits in sheep, with males and females showing differences in skin proteins related to wool growth.
16 citations
,
February 2018 in “European Journal of Endocrinology” Diagnosing hyperandrogenism in women is complex and requires accurate testing methods and consideration of SHBG levels.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
December 2022 in “Cumhuriyet medical journal” Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.