12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
7 citations
,
August 2023 in “Frontiers in Immunology” Targeting TRP channels may help reduce excessive scarring.
1 citations
,
April 2021 in “Journal of Investigative Dermatology” Activating TRPA1 reduces scarring and promotes tissue regeneration.
November 2025 in “Journal of Investigative Dermatology” CBD can help hair grow by supporting scalp health and reducing inflammation.
September 2025 in “PubMed” Auricular electrostimulation reduces itching in mice.
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Cannabidivarin (CBDV) helps new brain cells grow and develop in a specific brain area through a certain receptor.
January 2023 in “Л.Н. Гумилев атындағы Еуразия ұлттық университетінің хабаршысы” Botulinum toxin is effectively used to treat various painful conditions and its therapeutic uses are growing.
April 2021 in “Journal of Investigative Dermatology” Bacteria can help skin regenerate through a process called IL-1β signaling.
March 2009 in “Chinese Journal of Dermatology” Melanocytes in the outer root sheath are likely stem cells that grow fast but stay immature.
December 1981 in “ビジネスコミュニケ-ション” TRPV1 affects sebaceous gland function and could help treat acne.
7 citations
,
October 2023 in “European Journal of Pharmacology” Cannabidivarin (CBDV) may help brain cell growth and survival through the TRPV1 receptor.
July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
8 citations
,
June 2024 in “Pharmaceutics” PEA-ENL improves skin delivery and reduces inflammation without side effects.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
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.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.