15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
9 citations
,
May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” K6hf is found in specific parts of hair follicles, nails, and tongue, and is linked to hair growth and structure.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
19 citations
,
March 1997 in “Journal of Cutaneous Pathology” Alopecia areata involves specific T-cells, unlike androgenetic alopecia.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
20 citations
,
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
January 2022 in “Dubai diabetes and endocrinology journal/Dubai diabetes & endocrinology journal” A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
December 2023 in “Paediatrics & Family Medicine/Pediatria & Medycyna Rodzinna” Type 1 diabetes patients often have other autoimmune diseases, which complicate their care.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
4 citations
,
March 2014 in “The FASEB Journal” The HIF-2α/ARNT complex is important for hair follicle development by controlling cell growth.
17 citations
,
November 1967 in “American Journal of Anatomy” Hairless mice have longer hair follicles and abnormal structures during the catagen phase.
January 2012 in “Yearbook of Dermatology and Dermatologic Surgery” Alopecia areata is a hair loss condition that often starts before age 30 and can affect various body parts, with unpredictable hair regrowth chances.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
4 citations
,
November 2011 in “Archives of Dermatology” Hamilton scale imprecise, hair shaft diameter decreases, stem cell transplant regrows hair, ECP ineffective for alopecia areata universalis.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
1 citations
,
January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
36 citations
,
March 2005 in “Biotechnology and Bioengineering” A new method speeds up insulin amyloid fibril growth, useful for studying diseases.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
September 2023 in “International Journal of Dermatology” Younger people are at a higher risk for Fibrosing Alopecia in a Pattern Distribution than previously thought, with common symptoms and possible involvement of mast cells in its development.
3 citations
,
March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.