Mal de Meleda: a new geographical localization in Anatolia

Area of Science:

• Genetics and Dermatology
• Rare Genetic Disorders
• Epidemiology of Skin Diseases

Background:

• Mal de Meleda (MDM) is an autosomal recessive palmoplantar keratoderma.
• MDM was initially identified on the island of Meleda, but its prevalence in other regions suggests a broader origin.
• Understanding the geographic distribution of MDM is crucial for genetic research.

Purpose of the Study:

• To identify and characterize families affected by Mal de Meleda (MDM) in the Köprüçay region of Anatolia.
• To investigate the prevalence and clinical manifestations of MDM in a previously unstudied population.
• To contribute to the understanding of the genetic origins and geographic spread of MDM.

Main Methods:

• Initial patient identification followed by a comprehensive study in the Köprüçay region.
• Data collection involved patient interviews using questionnaires and detailed pedigree drawings.
• Clinical examinations were conducted on all identified MDM cases.

Main Results:

• A total of 39 patients from 8 families and 2 additional cases of MDM were identified within a 50 km² area.
• Key clinical features included nail involvement (80%), 'glove-and-sock' keratoderma (60%), edema (60%), fingertip tapering (60%), and hyperhidrosis (50%).
• The findings represent the largest reported series of Mal de Meleda cases to date.

Conclusions:

• This study reports the largest series of Mal de Meleda cases, expanding knowledge of its prevalence in Anatolia.
• The genetic and historical links between MDM patients in Meleda and Anatolia require further investigation.
• Future research involving dermatology, genetics, and medical history departments is recommended to explore these connections.