Autosomal recessive epidermolytic palmoplantar keratoderma.
Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.
Alsaleh
Q A
QA
Dermatology Unit, Farwania Hospital, Kuwait.
Teebi
A S
AS
D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology