September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” PPARγ signaling modulation can protect hair follicle stem cells from chemotherapy-induced damage.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
1 citations
,
January 2014 in “Rinsho Shinkeigaku” Immunological treatment improved both neuropathy and alopecia.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
3 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.
6 citations
,
November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
1 citations
,
July 2023 in “Al-Azhar Medical Journal” Higher antigliadin antibodies are linked to more severe alopecia areata, suggesting screening for celiac disease in these patients.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
January 2026 in “Advanced Science” Increasing XIAP and DDRGK1 can help prevent hearing loss from loud noise.
2 citations
,
July 2025 in “Acta Pharmacologica Sinica” Isoginkgetin reduces inflammation in cells by blocking NF-κB activation.
18 citations
,
July 2008 in “Current Oncology Reports” EGFR cancer drugs often cause a rash, which can lead to distress and isolation, but may also improve outcomes for some cancer patients. Current treatments for the rash are limited, but a compound called menadione shows promise.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
17 citations
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January 2009 in “Nippon Ishinkin Gakkai Zasshi” A 10-year-old boy recovered from a scalp infection caused by a fungus after treatment with itraconazole.
November 2025 in “Journal of Investigative Dermatology” Alopecia Areata may involve reduced antioxidant defenses in hair follicles, affecting stem cell function.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
Certain medications can cause gum problems, so patients and healthcare providers should be aware and monitor oral health.
Psoriasis is linked to a higher risk of autoimmune diseases and other health conditions.
Mutations in specific genes cause different types of ectodermal dysplasias.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
41 citations
,
December 2019 in “Science Translational Medicine” Anti-EGFR therapy can cause skin issues, but FGF7 treatment might help.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.