S Ergin1, B Sanli Erdogan, S Aktan. 1. Department of Dermatology, Faculty of Medicine, Pamukkale University, Denizli, Turkey. sergin@pamukkale.edu.tr
Abstract
BACKGROUND: Mal de Meleda (MDM) is an autosomal recessive form of palmoplantar keratoderma first described on the Dalmatian island of Meleda. MDM has been observed in many other countries so that the origin of the MDM gene may be elsewhere than in Meleda. OBJECTIVE: After identification of the first MDM patient during a medical visit, a study was planned to reveal other families with MDM in the Köprüçay region in Anatolia. METHODS: The patient was interviewed with a questionnaire including a pedigree drawing. All the subsequent cases reported to be of MDM were visited for clinical examination and pedigree drawings. RESULTS: Thirty-nine patients, 8 families and 2 additional cases with MDM were identified in a 50-km(2) mountainous region in Köprüçay canyon in Anatolia. The prevalent clinical features were nail involvement (80%), 'glove-and-sock' distribution of the keratoderma (60%), edema on the hands/feet (60%), conical tapering of the fingertips (60%) and hyperhidrosis on the palms and soles (50%). CONCLUSION: To our knowledge, this is the largest series reported. The relationship between the patients in Meleda and those in Anatolia awaits discovery by further researches that will be carried out with the collaboration of dermatology, genetics and medical history departments. Copyright 2003 S. Karger AG, Basel
BACKGROUND: Mal de Meleda (MDM) is an autosomal recessive form of palmoplantar keratoderma first described on the Dalmatian island of Meleda. MDM has been observed in many other countries so that the origin of the MDM gene may be elsewhere than in Meleda. OBJECTIVE: After identification of the first MDMpatient during a medical visit, a study was planned to reveal other families with MDM in the Köprüçay region in Anatolia. METHODS: The patient was interviewed with a questionnaire including a pedigree drawing. All the subsequent cases reported to be of MDM were visited for clinical examination and pedigree drawings. RESULTS: Thirty-nine patients, 8 families and 2 additional cases with MDM were identified in a 50-km(2) mountainous region in Köprüçay canyon in Anatolia. The prevalent clinical features were nail involvement (80%), 'glove-and-sock' distribution of the keratoderma (60%), edema on the hands/feet (60%), conical tapering of the fingertips (60%) and hyperhidrosis on the palms and soles (50%). CONCLUSION: To our knowledge, this is the largest series reported. The relationship between the patients in Meleda and those in Anatolia awaits discovery by further researches that will be carried out with the collaboration of dermatology, genetics and medical history departments. Copyright 2003 S. Karger AG, Basel