Linked Life Data

8346099

Source:http://linkedlifedata.com/resource/pubmed/id/8346099

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-9-9
pubmed:abstractText
An 18-month-old and an 8-year-old girl had trichothiodystrophy (TTD). Microscopic observation of the hair under polarized light showed typical alternation of bright and dark bands; amino acid analysis of the hair demonstrated a marked reduction of cystine levels. Both patients had skin lesions consisting in the older child of diffuse follicular keratosis since birth, and in the younger of an ichthyosiform dermatitis on the lower legs that appeared at age 4 months. Ultrastructural studies of the skin showed striking similarities in both cases: perinuclear vacuoles with a unit membrane in the keratinocytes, and dispersed, irregularly arranged bundles of tonofilaments particularly at the desmosome junction. The origin of the vacuoles is unknown; the abnormalities of the tonofilaments could be explained on the basis of a generalized abnormality in sulfur-containing proteins, reflecting a disturbance in the synthesis of keratins. These electron microscopy findings could be considered as a peculiar feature of ichthyotic skin in patients with TTD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0736-8046
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-6
pubmed:dateRevised
2009-3-3
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Trichothiodystrophy: ultrastructural studies of two patients.
pubmed:affiliation
Department of Dermatology, University of Rome La Sapienza, Italy.
pubmed:publicationType
Journal Article, Case Reports