SELECT ISSUE

MÆDICA - a Journal of Clinical Medicine | Vol. 12, nr. 2, 2017
ISSN 1841-9038  |  e-ISSN 2069-6116
ISSN-L 1841-9038
CNCSIS - CMR - B+

HIGHLIGHTS

Plagiatul – in actualitate

Tema plagiatului este tot mai mult discutata in ultima vreme. Aparitia unor programe performante de cautare si identificare a similitudinilor intre texte [...]

Committe on Publication Ethics

A forum for responsible and ethical research publishing – Code of Conduct and Best Practice Guidelines for Journal Editors.

Members Area


First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

, , , , and

ABSTRACT

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.
Keywords: pachyonychia congenita, oral leukokeratosis, nail dystrophy, palmoplantar keratoderma, plantar pain, keratin mutation

Full text | PDF