Abstract
A 16-year old boy, P.E., is described in whom the diagnosis of congenital lamellar ichthyosis was established at birth based on the clinical picture and confirmed by a molecular genetic study. Diabetes mellitus was first suspected at the age of 10 years based on the elevated fasting blood glucose (7.1 mmol/l) and HbA1c (7.4%) levels. The patient's medical history revealed that his maternal grandmother suffered diabetes mellitus and his mother had gestational diabetes during the second pregnancy. The patient presented with impaired carbohydrate tolerance in the absence of insulin resistance. The molecular genetic study of the GCK gene revealed a Gly80Ser mutation in the third exon sequence. We failed to find a report of the combination of congenital lamellar ichthyosis and type 2 MODY diabetes mellitus in the available literature.
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