TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
April 2020
in “
Journal of dermatology
”
TRPS1 mutation trichorhinophalangeal syndrome type 1 supernumerary teeth hypoplastic mandibular condyles slender condylar necks unique hair morphology congenital melanocytic nevus abnormal hair follicles detached hair cuticles rolled up hair cuticles TRPS1 TRPS1 syndrome extra teeth underdeveloped jaw joints thin jaw necks distinctive hair structure birthmark with hair unusual hair roots loose hair cuticles curled hair cuticles
TLDR A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
The document reports on a Thai male with Trichorhinophalangeal syndrome type 1 (TRPS1), an autosomal dominant disorder, who exhibited a c.1842C>T (p.Arg615Ter) mutation in the TRPS1 gene. This individual presented with 15 supernumerary teeth, double mental foramina, hypoplastic mandibular condyles with slender condylar necks, and distinctive hair morphology. Notably, he had no body hair, and the hair within a congenital melanocytic nevus had an increased number of cuticles compared to normal. Additionally, occipital hair showed abnormal follicles and cuticles, with the scale edges of the hair cuticles being detached and rolled up. The features of hypoplastic mandibular condyles with slender condylar necks, double mental foramina, and the unique hair cuticle morphology had not been previously reported in TRPS1 patients.
