Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations

Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family. The patients presented unique clinical features that were different from other known Inherited Palmoplantar Keratodermas -hearing loss syndromes. Mutations in GJB2 or GJB6 and the mitochondrial A7445G mutation, known to be the major causes of diverse Inherited Palmoplantar Keratodermas -hearing loss syndromes were not detected by Sanger sequencing. Moreover, the pathogenic mutation could not be identified using whole exome sequencing. Other known Inherited Palmoplantar keratoderma syndromes were excluded based on both clinical criteria and genetic analysis.

Prevalence and characters of Entamoeba histolytica infection in Saudi infants and children admitted with diarrhea at 2 main hospitals at south Jeddah: a re-emerging serious infection with unusual presentation

In this study, Entamoeba histolytica had high prevalence and unusual presentation by affecting high proportion of infants under 1 year; severe clinical manifestations, and laboratory findings that were known to be usually encountered in invasive amebiasis as significant leukocytosis for age, neutrophilic leukocytosis for age, and positive C-reactive protein were found among more than 50% of admitted Saudi infants and children with E. histolytica infection in our locality. E. histolytica can be a re-emerging serious infection when it finds favorable environmental conditions and host factors which are mainly attributed to inadequate breastfeeding in this study. This may occur in any other area of the world with the same risk factors, so we must be ready to tackle it with effective and more powerful preventive measures.