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Lethal congenital erythroderma: a newly recognised genetic disorder
Author(s) -
Shield J. P. H.,
Jndge M. R.,
Reardon W.,
Baraitsar M.,
Nohria V.,
Malons M.,
Harper J. I.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03681.x
Subject(s) - erythroderma , failure to thrive , genetic disorder , exfoliative dermatitis , medicine , congenital disorder , dermatology , genetics , pediatrics , biology , pathology , disease
We report 4 patients and their extended families comprising 17 cases, all of whom had congenital exfoliative erythroderma resistant to treatment, associated with failure to thrive and hypoalbuminaemia. All died in the first year of life. This condition appears to be inherited in an autosomal recessive manner and the underlying defect remains unknown.