Trichorhinophalangeal syndrome type I-Clinical, microscopic, and molecular features

Jiehyun Jeon, Joo Kim, Chil Hwan Oh

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Trichorhinophalangeal syndrome type I (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm) visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4), which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling.

Original languageEnglish
Pages (from-to)54-57
Number of pages4
JournalIndian Journal of Dermatology, Venereology and Leprology
Volume80
Issue number1
DOIs
Publication statusPublished - 2014 Jan 1

    Fingerprint

Keywords

  • Autosomal dominant genetic disorder
  • trichorhinophalangeal syndrome
  • TRPS 1 gene

ASJC Scopus subject areas

  • Dermatology
  • Infectious Diseases

Cite this