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Ichthyosis vulgaris showing features of the autosomal dominant and the X‐linked recessive variants in the same family *
Author(s) -
Mevorah B.,
Frenk E.,
Pescia G.
Publication year - 1978
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.1399-0004.1978.tb01199.x
Subject(s) - ichthyosis vulgaris , ichthyosis , genetics , congenital ichthyosis , biology , hyperkeratosis , gene , filaggrin , atopic dermatitis , immunology
A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Pheno‐typically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X‐linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X‐linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.