Abstract
Mal de Meleda (MDM), or recessive transgressive palmoplantar keratoderma, is a rare disorder. MDM may have originated as a founder mutation that occurred on the island of Meleda, now Mljet, in Croatia, where it was first described. However, the condition has also been observed in countries distant from Mljet. The presentation of the disease in young patients has not been reported and the progressiveness of the lesions is debated. We examined four young United Arab Emirates nationals patients (ages 7 months to 12 years) who presented with keratoderma palmoplantaris (KPP) and transgressive pachyderma (TP) that had both been present before 1 year of age. KPP and TP were more pronounced in the two oldest patients. Family histories were consistent with autosomal recessive inheritance. The development of MDM lesions appears to be age-related. However, environment and individual factors may also play a role in the development and persistence of the lesions. Molecular genetic studies are necessary to establish whether the broad clinical presentation of the disease is due to allelic or genetic heterogeneities.
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