ABSTRACT

Observations:

Mal de Meleda (MDM) is very rare autosomal recessive genodermatosis disorder characterized by erythema and hyperkeratosis of the palms and soles with sharp demarcation, extending to the dorsal aspects of the hands and feet (known as transgrediens). MDM characterized by genetic and clinical heterogeneity. Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I (NF-1) is the most common type of the disease accounting 90% of the cases, and is characterized by multiple cafe-au-lait spots and the occurrence of neurofibromas along peripheral nerves.

15-year old Caucasian female was referred to our department with complaint of diffuse severe transgrediens plantar keratoderma accompanied by painful fissures. After appropriate examination diagnosis of MDM and neurofibromatosis type 1 made and therapy with systemic 13-cis-retinoic acid was started, with significant positive effect. To the best of our knowledge this is a first description of coexistence of MDM and neurofibromatosis type 1. 13-cis-retinoic acid demonstrated high clinical efficacy in treatment of MDM in our observation.