Naslov
Palmoplantarne keratodermije
(Palmoplantar keratodermas - PPK)

Autori
Bakija-Konsuo, Ana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, neobjavljeni rad, znanstveni

Skup
Genodermatoses and rare skin disease

Mjesto i datum
Zagreb, Hrvatska, 22.09.2016

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
genodermatoze, palpmoplantarne keratodermije,
(genodermaotses, palpmoplantar keratodermas)

Sažetak
Palpmoplantar keratodermas are clinically and genetically heterogeneous group of genodermatoses, which share impaired epidermal differentiation resulting in prominent palmoplantar hyperkeratosis. Clinical diagnosis of PPK is sometimes very difficult bacause of clinical heterogenity, genetic heterogenity and the probable exsitence of as yet unidentified PPK. Molecular genetic analyses identified the underlying genetic defects in an increasing number of hereditary PPK. Depending on tissue distribution and location of mutation with a certain gene, the clinical spectrum of PPK range from a pure palmoplantar skin abnormality to a complex combination of symptoms with dental anomalies, deafnes, progressive cardiomyopathy and even cancer. The paper presents various classifications of HPPK (based on clinical and genetic base), clinical features of some PPK, different diagnosis and therapeutic guidelines.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA