An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Abstract

BackgroundTrichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity.Case presentationWe report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below − 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet. Patient’s mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. Molecular analysis of TRPS1 gene showed a heterozygous c.2086C > T;(p.Arg696Ter) mutation both in the patient and her mother, confirming the diagnosis of TRPS, type I.ConclusionsClinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial to reach the correct diagnosis, which is essential to perform adequate follow-up and timely therapeutic procedures.

Trps1-deficient transplanted skin gave rise to a substantial amount of hair: Trps1 is unnecessary for hair development

“…Patients with TRPS I have an orbicular nose, a long and even philtrum, a thin upper lip, sparse scalp hair that grows slowly, and protruding ears. 3,4 These findings proved that Trps1 was required for specific aspects of hair growth regulation. In addition to the apparent defects in facial soft tissues, male patients were particularly affected by hair loss, with many being nearly or completely bald soon after puberty.…”

“…Patients with TRPS I have an orbicular nose, a long and even philtrum, a thin upper lip, sparse scalp hair that grows slowly, and protruding ears. 3,4…”

Trichorhinophalangeal Syndrome Type 1: Unusual Case Report and Review of Literature

“…Comparing the findings in our case to those reported in the studies observed in this paper, it is possible to associate new manifestations with TRPS1, especially in the head and oral tract. Systematically, the telangiectatic skin and elongated fingers stand out instead of shortening, as reported in most cases [2,[30][31][32][33][34][35]. Other manifestations such as short stature, joint and hip problems coincide with the re-…”

“…Analyzing the cases, it was observed that there is female predilection and no ethnic group predilection. There are some clinical signs that are manifested in their carriers in a homogeneous way [34,35]. Bone epiphyses in the conical shape of the middle phalanges of the hands occur in most cases, being the main sign of the syndrome.…”

Trichorhinopharyngeal Syndrome Type 1 and Trisomy 21: A Patient with 2 Genetic Mutations

“…Approximately 100 cases of TRPS Type I and III and 100 cases of TRPS Type II have been described and published up until 2017. 2 We describe the neonatal course of an infant with TRPS Type I and Trisomy 21, two chromosomal anomalies prenatally diagnosed. To our knowledge, this is the first report of TRPS with Trisomy 21.…”