September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
12 citations
,
January 2014 in “Annals of Dermatology” Modified superoxide dismutase may trigger an autoimmune response in alopecia areata.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
22 citations
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June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
2 citations
,
January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” June 2026 in “Eurasian Journal of Medicine”
June 2024 in “Skin Research and Technology” Red fluorescence in AGA scalps is linked to different microbes.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
2 citations
,
January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
4 citations
,
January 2017 in “Biological & pharmaceutical bulletin” Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
1 citations
,
June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
3 citations
,
March 2022 in “Korean Journal of Family Medicine” Doctors should consider SLE in males even if antinuclear antibody tests are negative.
1 citations
,
April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
6 citations
,
February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Ritlecitinib significantly improves scalp hair regrowth in alopecia areata patients over time.
October 2021 in “Postepy Dermatologii I Alergologii” No significant link was found between the studied genes and female hair loss in the Polish population.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
3 citations
,
April 1991 in “PEDIATRICS” Children with frequent urination don't need extensive tests or aggressive treatments.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
3 citations
,
April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
April 2023 in “Zenodo (CERN European Organization for Nuclear Research)” High-dose vitamin D and an anti-inflammatory diet may help improve symptoms in autoimmune conditions like SLE and AA.