Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

Sandra Cecilia García-García, Maira Elizabeth Herz-Ruelas, Minerva Gomez-Flores, Norma Elizabeth Vázquez-Herrera, Cosimo Misciali, Antonella Tosti, Sonia Chavez-Alvarez, Jorge Ocampo-Candiani, Alejandra Villarreal-Martinez

Research output: Contribution to journalArticlepeer-review

Abstract

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding ears, and sparse hair on both the scalp and the lateral third of the eyebrows. Cone-shaped epiphyses are a common radiographic finding. Loose anagen syndrome (LAS) is a sporadic or autosomal dominant condition due to abnormalities in the hair's anchoring mechanism. It mostly affects children, who usually have reduced hair length, as well as hair that is easily plucked without pain. Recent contributions regarding trichoscopic findings of LAS have been made, describing rectangular black granular structures as a typical feature. An association between TRPS and LAS has been mentioned by hair experts, but no reports documenting this have been published. This case demonstrates the co-existence of both conditions in a patient with characteristic phenotypic traits of TRPS and LAS.

Original languageEnglish (US)
Pages (from-to)162-167
Number of pages6
JournalSkin Appendage Disorders
Volume6
Issue number3
DOIs
StatePublished - Jun 1 2020

Keywords

  • Loose anagen syndrome
  • Pull-test
  • Trichogram
  • Trichorhinophalangeal syndrome
  • Trichoscopy

ASJC Scopus subject areas

  • Dermatology

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