5 citations
,
June 2014 in “Gastroenterology report” Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.
4 citations
,
January 2019 in “Clinical Chemistry” Diagnosing Polycystic Ovary Syndrome is hard due to varying symptoms, no set criteria, and the need for better tests and education.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
October 2023 in “International Journal of Science and Research (IJSR)” Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
20 citations
,
March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
1 citations
,
January 2008
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
2 citations
,
August 2022 in “Middle East Fertility Society Journal” The new rodent model successfully mimics non-lean human PCOS symptoms.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
21 citations
,
May 2019 in “Pediatrics in review” People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
June 2022 in “Journal of medical science and clinical research” Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
308 citations
,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
3 citations
,
July 2015 in “International Journal of School Health” The most common PCOS type in adolescents is hyperandrogenic with polycystic ovaries.
9 citations
,
January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
1 citations
,
January 2004 in “Elsevier eBooks” Polycystic Ovarian Syndrome (PCOS) is a common condition causing fertility issues and other symptoms, with unclear causes and treatments focused on improving insulin sensitivity.
August 2022 in “International journal of reproduction, contraception, obstetrics and gynecology” The study found that 7.21% of young girls have polycystic ovarian syndrome, with symptoms like irregular periods, abnormal hair growth, and acne. Early diagnosis is important to prevent long-term complications.
February 2026 in “Research Society and Development” PCOS is a common disorder in women causing symptoms like irregular periods and infertility, and requires early diagnosis and treatment.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
9 citations
,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
27 citations
,
October 2016 in “The Journal of Clinical Endocrinology and Metabolism” Daughters of women with PCOS generally experience normal puberty but may have more body hair and different body fat distribution.