2 citations
,
October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
June 2025 in “International Medical Case Reports Journal” Timely diagnosis and treatment of complex autoimmune diseases like APS2 are crucial to prevent complications and improve life quality.
124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
45 citations
,
May 2003 in “Journal of Cell Science” α3β1-integrin is crucial for maintaining normal hair follicle shape and function but not needed for the development of the surrounding skin.
2 citations
,
June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
July 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The BASP classification is a detailed system for categorizing hair loss in both men and women, but it may be complex for beginners and not fully suitable for grading female hair loss.
1 citations
,
September 1986 in “Journal of the Forensic Science Society” Hair root sheaths can be used to accurately analyze genetic markers.
ARHGEF3 is essential for proper hair follicle development.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
5 citations
,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
12 citations
,
August 2013 in “Journal of Dermatological Science” The MAGE3 hypothesis for alopecia areata did not lead to a significant breakthrough.
January 2011 in “International Journal of Trichology” The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
2 citations
,
June 2019 in “International Journal of Dermatology” The modified hair loss classification is more detailed but less user-friendly.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
19 citations
,
May 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” The type 3 IP3 receptor is important for controlling hair loss and growth.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
January 2026 in “Case Reports in Dermatological Medicine” Intralesional steroids effectively treated a young female's scalp nodules without recurrence.
8 citations
,
January 2013 in “International journal of trichology” Two people had unusual ring-shaped hair loss due to an autoimmune disorder.
March 2025 in “Journal of Science Natural Science” Acetyl tetrapeptide-3 was successfully made for use in hair loss treatments.
31 citations
,
February 2007 in “Molecular Carcinogenesis” Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.