Naslov
Mal de Meleda

Autori
Basta-Juzbašić, Aleksandra ; Bakija-Konsuo, Ana ; Šitum, Mirna

Vrsta, podvrsta i kategorija rada
Radovi u zbornicima skupova, cjeloviti rad (in extenso), znanstveni

Izvornik
II Dermatološki dnevi. Zbornik Predavanj / Miljković, j. - Maribor : Maribor: Splošna bolnišnica, 2004, 41-45

Skup
II Dermatološki dnevi

Mjesto i datum
Maribor, Slovenija, 05.11.2004. - 07.11.2004

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
HPPK; Mal de Meleda

Sažetak
Keratodermia palmoplantaris transgrediens is an autosomal recessive disorder, in the world medical literature most commonly referred to as "Mal de Meleda", named according to one of the maost beautiful Croatian islands - Mljet (Meleda). During the investigation, 8 families, with 12 patients and 37 healthy family members, were identified. The prevalence of Mal de Meleda in Croatia is 0.25 per 100.000 inhabitants. Following obligatory symptoms were identified: diffuse palmoplantar hyperkeratosis, transgrediency, hyperhydrosis, dystropic changes of fingernails with subungual keratoses, brachyphalangia and dermatogenic contractures. It was found that the facultative symptoms can be: perioral erythema, lingua plicata, gothic palate, isolated fibrous nodules localizes on the elbows, knees and dorsal side of the palms, lichenifiaction and cystic osteoolysis and acroosteolysis of the carpal bones, metatarsal bones and phalanges of the hand. Micromorphological analysis by the light microscope revealed three characteristic features: ortohyperkeratosis, hypergranulosis and acanthosis. Micromorphological analysis with electronic microscope implied that the cells of the stratum spinosum layer do not show the significant changes in the appearance. Desmosomes are intact, and the amount of tonofibriles and keratohyaline granules is markedly increased in comparison to the normal skin. The autosomal recessive character of the disease is definetely established in this study, thanks to the adequate number of analyzed genealogies. For genetic studies blood samples were taken from 8 patients and 16 close relatives. These confirmed a shared haplotype in all cases, but in none of unaffected control individuals, near the marker D8S1751 on chromosome 8.

Izvorni jezik
Slv

Znanstvena područja
Kliničke medicinske znanosti

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