Journal Information
Vol. 101. Issue 5.
Pages 360 (1 November 2024)
Vol. 101. Issue 5.
Pages 360 (1 November 2024)
Images in Paediatrics
Full text access
Trichothiodystrophy, playing with optical microscope
Tricotiodistrofia, jugando con el microscopio óptico
Visits
448
Elisabeth Gómez Moyano, Jose Antonio Llamas Carmona, Irene López Riquelme
Corresponding author
lopezriquelmeirene@uma.es

Corresponding author.
, Leandro Martínez Pilar
Departamento de Dermatología, Hospital Regional Universitario, Málaga, Spain
This item has received
Article information
Full Text
Download PDF
Statistics
Figures (1)
Additional material (1)
Full Text

A 5-year-old boy with a history of hydrocephalus, cortical and cerebellar atrophy, hypospadias, cryptorchidism, psychomotor retardation, renal hypoplasia, high myopia and nystagmus presented to the dermatology department with sparse, dry and brittle hair and ichtyosis sparing the palms and soles. His hair did not grow and had never been cut. He did not have photosensitivity.

On light microscopic examination, the hair strands appeared normal, but upon setting the polarized light filter and rotating it slowly, alternating light and dark transverse bands could be seen (Fig. 1 and Appendix A, video).

Figure 1.

Alternating light and dark bands (“tiger tail” pattern) on polarized light microscopy.

(0.17MB).

This key finding led to the diagnosis of trichothiodystrophy, a hair dysplasia that is part of a complex neuroectodermal syndrome.

Appendix A
Supplementary data

The following are Supplementary data to this article:

(1.23MB)

Copyright © 2024. Asociación Española de Pediatría
Download PDF
Idiomas
Anales de Pediatría (English Edition)
Article options
Tools
Supplemental materials
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?