8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
6 citations
,
September 2024 in “Journal of Clinical Medicine” Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
1 citations
,
December 2013 in “Journal of Evolution of Medical and Dental Sciences” Alopecia areata causes patchy hair loss due to unknown factors, affecting all ages and genders.
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.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
August 2021 in “Annals of Agricultural and Environmental Medicine” The article concludes that understanding Frontal Fibrosing Alopecia (FFA) is crucial for effective treatment, which includes medication like 5α-reductase inhibitors and hydroxychloroquine.
March 2026 in “Aging Research” Personalized anti-aging strategies are important, considering genetics and lifestyle.
75 citations
,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
47 citations
,
May 2012 in “Wiley Interdisciplinary Reviews-Developmental Biology” The conclusion is that understanding how feathers and hairs pattern can help in developing hair regeneration treatments.
18 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin patterns are formed by simple reaction-diffusion mechanisms.
4 citations
,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
February 2025 in “PubMed” Alopecia areata cases have increased globally, affecting mostly women aged 30-34, with links to other health issues.
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
January 2005 in “Experimental Dermatology” Genetic factors play a major role in acne.
October 2021 in “Postepy Dermatologii I Alergologii” No significant link was found between the studied genes and female hair loss in the Polish population.
11 citations
,
October 2014 in “Gene” Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
114 citations
,
January 2014 in “World Journal of Gastroenterology” People with PCOS, especially if obese, often have NAFLD, linked to obesity, insulin resistance, and high androgen levels.
10 citations
,
November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
24 citations
,
May 2022 in “BMC Veterinary Research” lncRNAs play a key role in hair follicle development, affecting cashmere quality and yield.
9 citations
,
January 2017 in “Elsevier eBooks” Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
August 2014 in “PLOS ONE” Hair loss is linked to eating less soy, having lower blood vanadium, and a specific genetic variation in Taiwanese communities.