Trichothiodystrophy associated with urologic malformation and primary hypercalciuria

• Published in: Pediatric dermatology Vol. 14; no. 6; pp. 441 - 445
• Main Authors: MALVEHY, J, FERRANDO, J, SOLER, J, TUNEU, A, BALLESTA, F, ESTRACH, T
• Format: Journal Article
• Language: English
• Published: Malden, MA Blackwell 01.11.1997
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - physiopathology; Adult; Biological and medical sciences; Calcium - metabolism; Calcium - urine; Dermatology; Hair - abnormalities; Hair - ultrastructure; Hair and nails disorders; Humans; Ichthyosis - diagnosis; Intellectual Disability; Male; Medical sciences; Microscopy, Electron, Scanning; Urinary Tract - abnormalities; Urologic Diseases - diagnosis; Urologic Diseases - genetics; Kidney disease; Human; Skin disease; Urinary system disease; Calcium; Congenital; Trichothiodystrophy; Instrumentation therapy; Electron microscopy; Biological activity; Case study; Association; Hypercalciuria; Urinary system; Malformation; Clinical investigation; Diagnosis
• ISSN: 0736-8046; 1525-1470
• DOI: 10.1111/j.1525-1470.1997.tb00685.x

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.