30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
March 2022 in “JAAD case reports” A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
63 citations
,
January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
1 citations
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August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
July 2025 in “Clinical Dermatology Review” A rare family case of multiple benign hair follicle tumors was identified, highlighting the need to distinguish them from similar conditions.
10 citations
,
November 2016 in “Clinical and experimental dermatology” PAS III can cause multiple autoimmune diseases with noticeable skin issues.
October 2013 in “The American Journal of Gastroenterology” Colonic lipomas can cause complications like intussusception, requiring surgery if symptoms occur.
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
9 citations
,
February 2007 in “JAMA” PCOS is a common inherited condition causing cysts, irregular periods, and increased diabetes risk in women.
4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
278 citations
,
August 2004 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” Polycystic ovaries are defined by having 12 or more small follicles in each ovary and are found in up to 33% of women, while Polycystic Ovary Syndrome (PCOS) is the most common hormone disorder in women of reproductive age, potentially increasing risk of obesity, diabetes, and heart diseases.
September 2002 in “Fertility and sterility” Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” PCOS is a major health issue affecting multiple hormone-producing organs.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
January 2019 in “Dermatologic Surgery” January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.