Autosomal recessive inheritance of erythrokeratoderma variabilis. 1997

D K Armstrong, and T H Hutchinson, and M Y Walsh, and J C McMillan
Department of Dermatology, Belfast City Hospital, Northern Ireland.

Erythrokeratoderma variabilis is a rare genodermatosis conventionally regarded as autosomal dominant in inheritance. We describe the clinical features and light and electron microscopic findings in two affected siblings born to unaffected parents and suggest an autosomal recessive mode of inheritance in this family. We also briefly review the literature on this disorder.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007642 Keratosis Any horny growth such as a wart or callus. Keratoderma Blennorrhagicum,Keratoma,Keratosis Blennorrhagica,Blennorrhagica, Keratosis,Blennorrhagicas, Keratosis,Blennorrhagicum, Keratoderma,Blennorrhagicums, Keratoderma,Keratoderma Blennorrhagicums,Keratomas,Keratoses,Keratosis Blennorrhagicas
D008297 Male Males
D004890 Erythema Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes. Erythemas
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012867 Skin The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.

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