Trichothiodystrophy associated with urologic malformation and primary hypercalciuria.

Abstract:

:Trichothiodystrophy (TTD) is a hair abnormality that may be associated with a large number of alterations affecting the skin phenotype and skin appendages, nervous system, eyes, bones, and immune, gonadal, and endocrine systems. We report the first case of TTD associated with a urologic malformation and primary hypercalciuria. Our patient had congenital ichthyosis, physical and mental retardation, and a dysmorphic facies associated with a complex urologic malformation and primary hypercalciuria. Characteristic features of his hair under microscopic examination (trichoschisis, alternating light and dark bands under polarizing microscopy, and a severely defective cuticle) and low sulfur content by radiographic microanalysis confirmed the diagnosis. We discuss the meaning of this new association in the spectrum of abnormalities related to TTD.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Malvehy J,Ferrando J,Soler J,Tuneu A,Ballesta F,Estrach T

doi

10.1111/j.1525-1470.1997.tb00685.x

subject

Has Abstract

pub_date

1997-11-01 00:00:00

pages

441-5

issue

6

eissn

0736-8046

issn

1525-1470

journal_volume

14

pub_type

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