title: 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.
authors.affiliation: Department of Dermatology, Hospital Clinic, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Malvehy
authors.forename: J
authors.initials: J
authors.lastname: Ferrando
authors.forename: J
authors.initials: J
authors.lastname: Soler
authors.forename: A
authors.initials: A
authors.lastname: Tuneu
authors.forename: F
authors.initials: F
authors.lastname: Ballesta
authors.forename: T
authors.initials: T
authors.lastname: Estrach
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000503:physiopathology; D000328:Adult; D002118:Calcium / Q000378:metabolism / Q000652:urine*; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis*; D008607:Intellectual Disability; D008297:Male; D008855:Microscopy, Electron, Scanning; D014551:Urinary Tract / Q000002:abnormalities*; D014570:Urologic Diseases / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002118:Calcium