Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1

BMJ Case Rep. 2015 Jan 27:2015:bcr2014207645. doi: 10.1136/bcr-2014-207645.

Abstract

Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands.

Publication types

  • Case Reports

MeSH terms

  • Arthritis, Rheumatoid / diagnosis*
  • Diagnosis, Differential
  • Disease Progression
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Hair Diseases / diagnosis*
  • Hair Diseases / diagnostic imaging
  • Hair Diseases / rehabilitation
  • Humans
  • Langer-Giedion Syndrome / diagnosis*
  • Langer-Giedion Syndrome / diagnostic imaging
  • Langer-Giedion Syndrome / rehabilitation
  • Male
  • Nose / abnormalities*
  • Nose / diagnostic imaging
  • Occupational Therapy
  • Radiography
  • Toes / abnormalities
  • Young Adult

Supplementary concepts

  • Trichorhinophalangeal Syndrome, Type I