1 citations
,
May 2021 in “Annals of the rheumatic diseases” Tofacitinib is a promising treatment for children with rheumatic diseases.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
1 citations
,
September 2016 in “Journal of Dermatological Science” Claudin-1 is crucial for maintaining skin barrier and preventing inflammation.
6 citations
,
January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
35 citations
,
September 2003 in “Archives of dermatology” Tiger tail bands in hair are caused by wavy hair fibers with melanin, unlike straight fibers in normal hair.
1 citations
,
April 2020 in “Asian Journal of Medicine and Biomedicine” A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
9 citations
,
January 2024 in “International Journal of Dermatology” 3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
14 citations
,
March 2014 in “Acta anaesthesiologica Taiwanica” A man developed rare complications after nose surgery, stressing the need for better prevention.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
12 citations
,
May 2009 in “Ophthalmic plastic and reconstructive surgery” Multiple pilomatrixoma may indicate Turner syndrome.
7 citations
,
March 2021 in “Journal of the American Academy of Dermatology” Tofacitinib can regrow hair in alopecia areata patients, but some may experience flares during treatment.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
December 2019 in “Journal of pediatrics & neonatology” A 13-year-old boy had a rare, stable type of hair loss with little chance of regrowth, but treatment is available for looks.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
20 citations
,
June 2003 in “Neurology” Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
December 2023 in “Medical & Clinical Case Reports Journal” Ayurvedic treatment, including leech therapy, can effectively regrow hair in alopecia areata.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
2 citations
,
July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
January 2013 in “Journal of dermatology” A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
December 2022 in “Biological and Clinical Sciences Research Journal” Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.