Document Detail

Prenatal diagnosis and variable presentation of recessive X-linked ichthyosis.
MedLine Citation:
PMID:  3857936     Owner:  NLM     Status:  MEDLINE    
Three infants with X-linked ichthyosis have been observed following pregnancies in which placental sulphatase deficiency (PSD) was suggested prenatally by low oestrogen excretion and an abnormal urinary steroid excretion pattern. This was confirmed in two cases by the absence of placental enzyme activity. In one case labour was spontaneous but all deliveries required Caesarean section. At 8 months the first infant showed an eczema in an atopic distribution but when seen at 5 years had typical X-linked ichthyosis. The skin of the second child peeled extensively at the age of 2 days but was not troublesome for 2 years, when ichthyosis vulgaris was diagnosed on clinical grounds. This pattern has persisted for 3 years. The third infant showed a mildly scaly skin in the neonatal period but at 3 months the features and distribution of X-linked ichthyosis were apparent. X-linked ichthyosis may have a variable presentation which is not always apparent at birth.
J W Honour; S K Goolamali; N F Taylor
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The British journal of dermatology     Volume:  112     ISSN:  0007-0963     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  1985 Apr 
Date Detail:
Created Date:  1985-07-05     Completed Date:  1985-07-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  423-30     Citation Subset:  IM    
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MeSH Terms
Child, Preschool
Estrogens / urine
Genes, Recessive
Ichthyosis / diagnosis*,  genetics
Infant, Newborn
Linkage (Genetics)
Obstetric Labor Complications / etiology
Placenta / enzymology
Prenatal Diagnosis*
Sulfatases / deficiency
X Chromosome*
Reg. No./Substance:
0/Estrogens; EC 3.1.6.-/Sulfatases; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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