No abstract

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a weli 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 ofepidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.

During a 7-year period (1981-1987), 25 children with congenital hypothyroidism were diagnosed in a regional hospital in Kuwait. The calculated incidence was 1:3476 live births. The diagnosis relied on clinical manifestation and confirmed by thyroid function tests. The age at diagnosis ranged between 3 weeks and 7 years with a mean of 18.5 months. Seven patients (28 per cent) were diagnosed in the first months, six in the following 5 months (24 per cent), and 12 diagnosed after the age of 6 months (48 per cent). Thyroid scan (TC-99M) was performed for 13 patients, four had thyroid aplasia, three had ectopia, and six had thyroid in normal position. In 1986-1987, two patients were detected by neonatal screening. Mental development was the best in the children who received thyroid hormone replacement in the first 6 months of life. Until a neonatal screening programme is widely available in developing countries, increased clinical awareness will remain the main way for the detection of congenital hypothyroidism.

A case of primary hypomagnesaemia with secondary hypocalcaemia in an Arab girl of consanguineous parents is reported. She presented at the age of 3 weeks with generalised convulsions, was treated with magnesium supplements and followed up for 5 years during which she showed normal physical and psychomotor development. In view of the striking male preponderance among the reported cases and the presence of parental consanguinity in a few, the inheritance is discussed and genetic heterogeneity is suggested.