Alternative titles; symbols
SNOMEDCT: 254176007;
Gedde-Dahl (1971) originally described this entity in 3 patients (LX1, LVII1, and LVII2) from 2 families. The features included onset of localized traumatic blistering in late childhood or adolescence, onset of nail manifestations several years before the skin manifestations, diffuse and slowly progressive skin atrophy of hands, feet, elbows, knees, palms and soles, with loss of dermal ridge pattern of fingers, occasional blistering of oral mucosa and congenital, slowly progressive perceptive deafness. As quoted by Fraser (1976), Gedde-Dahl (1977) subsequently found a family in the same rural population in which only the skin condition without the deafness was present and concluded that cutaneous and auditory phenotypes are produced by genes at separate but possibly closely linked loci. He has referred to the condition as recessive epidermolysis bullosa progressiva. It is apparently a distinct entity.
Gedde-Dahl (1984) indicated that of 3 more EBP families subsequently ascertained in the same West-Norwegian rural population, only 1 had hypoacusis (50-60 decibels at age 5 years). A fourth family with the association was discovered. A lod score of +2.2 at theta = 0.0 was obtained for the 4 families. Linkage to the red hair locus (266300) was mentioned.
Fraser, G. R. The Causes of Profound Deafness in Childhood. Baltimore: Johns Hopkins Univ. Press (pub.) 1976. P. 62.
Gedde-Dahl, T., Jr. Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Baltimore: Johns Hopkins Univ. Press (pub.) 1971.
Gedde-Dahl, T., Jr. Personal Communication. Oslo, Norway 1977.
Gedde-Dahl, T., Jr. The epidermolysis bullosa progressiva--hypoacusis (EBR3-HOAC) linkage. (Abstract) Cytogenet. Cell Genet. 37: 474 only, 1984.