Pachyonychia congenita type i presenting with subtle nail changes

Pediatric Dermatology

Volumn 26, Issue 4, 2009, Pages 492-493

  Iorizzo, Matilde ^a,b   Vincenzi, Colombina ^c   Smith, Frances J D ^d   Wilson, Neil J ^d   Tosti, Antonella ^c  

^a Private Practice Dermatologist ^*  (Switzerland)

^b Private Practice Dermatologist   (Switzerland)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d Medical Sciences Institute   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOKERATIN 6; CYTOKERATIN 6A; EMOLLIENT AGENT; PROLINE; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; CASE REPORT; CODON; CONGENITAL PACHYONYCHIA; DISEASE EXACERBATION; FEMALE; FINGER NAIL; FOLLOW UP; FOOT SOLE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERKERATOSIS; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NAIL COLOR DEFECT; NAIL DISEASE; ONYCHOLYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; TOE;

ADULT; AGED; ARGININE; DISEASE PROGRESSION; GENES, DOMINANT; HETEROZYGOTE; HUMANS; INFANT; KERATIN-6; MALE; MUTATION, MISSENSE; NAILS; ONYCHOLYSIS; PACHYONYCHIA CONGENITA; PROLINE;

EID: 68849113867     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2009.00970.x     Document Type: Article

References (3)

1. Jadasshon J, Lewandowsky F. Pachyonychia congenita. In : Jacobs' Ikonographia Dermatologica. Berlin : Urban and Schwarzenberg, 1906 : 29.
2. Leachman SA, Kaspar RL, Fleckman P et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005 10 : 3 17.
3. Liao H, Sayers JM, Wilson NJ et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci 2007 48 : 199 205.