Peculiar findings in a family with keratodermia palmo-plantaris papulosa buschke-fischer-brauer

Abstract

A family is described in which eight cases of autosomal dominantly inherited keratodermia palmo-plantaris papulosa were found in three generations. The propositus and his brother suffered simultaneously from deuteranopia and deuteranomalia. The propositus was operated on for gastric and duodenal ulcers; his brother, as well as his eldest son, had radiologically confirmed duodenal ulcers. Moreover, some members of the family had different inherited anomalies. The significance of these signs is unknown. The definition of the concept of the focal character of phenotypic expression of the pathologic gene is given. According to our histologic and ultrastructural investigations, as well as our study of the available literature, keratodermia palmo-plantaris papulosa is a heterogeneous entity.

Identification of a Locus for Punctate Palmoplantar Keratodermas at Chromosome 8q24.13–8q24.21

“…Emmert reported 47 punctate PPK cases in 17 families; all of these families reported are consistent with autosomal dominant inheritance. Salamon studied a family with eight cases including instances of male-to-male transmission (Salamon et al, 1982), but in the other reports and our two families the distribution between the affected men and women did not differ significantly (Stevens et al, 1996b;Emmert et al, 2003). Generally, disease expression was more severe on the soles than on the palms, probably due to higher pressure to the soles (Emmert et al, 2003).…”

“…It is transmitted as an autosomal dominant pattern. The case report of punctate PPK is very rare (Salamon et al, 1982;Kelsell et al, 1995;Stevens et al, 1996b;Emmert et al, 2003).…”