7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
3 citations
,
March 2021 in “Indian Journal of Rheumatology” Remote monitoring of chronic diseases like dermatomyositis is challenging and needs better tools for early detection and patient education.
5 citations
,
December 2022 in “Toxins” Neurotoxins can affect neurotransmitter release and have potential in treating muscle, pain, and cancer conditions, but more research is needed on how they work.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
April 2023 in “Journal of Investigative Dermatology” Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
50 citations
,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
September 2019 in “Journal of Investigative Dermatology” Innate lymphoid cells type 1 may contribute to alopecia areata.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
38 citations
,
February 2006 in “British Journal of Clinical Pharmacology” The study found that combining different databases gives a better estimate of drug side effects in hospitals.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
27 citations
,
June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
6 citations
,
June 1993 in “Veterinary Dermatology” A female Rottweiler had a rare genetic condition causing mostly hairless skin.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
20 citations
,
February 1991 in “Archives of dermatology” High doses of tryptophan may cause eosinophilic fasciitis.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
20 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
April 2017 in “Medicina Clínica (english Edition)” A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.