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 Dermatoljournal_title
Pediatric dermatologyauthors
Malvehy J,Ferrando J,Soler J,Tuneu A,Ballesta F,Estrach Tdoi
10.1111/j.1525-1470.1997.tb00685.xsubject
Has Abstractpub_date
1997-11-01 00:00:00pages
441-5issue
6eissn
0736-8046issn
1525-1470journal_volume
14pub_type
杂志文章abstract::Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern. ...
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journal_title:Pediatric dermatology
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