Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

British Journal of Dermatology

Volumn 166, Issue 4, 2012, Pages 875-878

  Spaunhurst, K M ^a,b   Hogendorf, A M ^c   Smith, F J D ^d   Lingala, B ^a   Schwartz, M E ^e   Cywinska Bernas, A ^c   Zeman, K J ^c,f   Tang, J Y ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c MEDICAL UNIVERSITY OF LODZ   (Poland)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e Pachyonychia Congenita Project   (United States)

^f POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN; CYTOKERATIN 16; CYTOKERATIN 17; CYTOKERATIN 6A; CYTOKERATIN 6B; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONGENITAL PACHYONYCHIA; CONTROLLED STUDY; DARIER DISEASE; DISEASE SEVERITY; FEMALE; FOOT SOLE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HAND PALM; HEALTH SURVEY; HUMAN; LEUKOPLAKIA; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; VALIDATION STUDY;

ADOLESCENT; ADULT; AGED; CHILD; FEMALE; GENOTYPE; HUMANS; KERATIN-16; KERATIN-6; MALE; MIDDLE AGED; MUTATION; PACHYONYCHIA CONGENITA; PHENOTYPE; YOUNG ADULT;

EID: 84859132902     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10745.x     Document Type: Article

References (13)

1. Smith FJ, Liao H, Cassidy AJ, et al. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc 2005; 10: 21-30.
2. Jadassohn J, Lewandowsky F,. [Pachyonychia congenita: keratosis disseminata circumscripta (follicularis). Tylomata. Leukokeratosis linguae]. In: Ikonographia Dermatologica (, Neisser A, Jacobi E, eds). Berlin, Urbach & Schwarzenberg, 1906.
3. Jackson ADM, Lawler SD,. Pachyonychia congenita; a report of six cases in one family, with a note on linkage data. Ann Eugen 1951; 16: 142-6.
4. Ward KM, Cook-Bolden FE, Christiano AM, et al. Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2. Clin Exp Dermatol 2003; 28: 434-6.
5. McLean WH, Hansen CD, Eliason MJ, Smith FJ,. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 2011; 131: 1015-17.
6. Cogulu O, Onay H, Aykut A, et al. Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. Eur J Pediatr 2009; 168: 1269-72.
7. Wilson NJ, Leachman SA, Hansen CD, et al. A large mutational study in pachyonychia congenita. J Invest Dermatol 2011; 131: 1018-24.
8. Fu T, Leachman SA, Wilson NJ, et al. Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. J Invest Dermatol 2011; 131: 1025-8.
9. 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.
10. Hay WW, Levin MJ, Sondheimer JM, Deterding RR,. Current Diagnosis & Treatment: Pediatrics, 20th edn. Columbus, OH, U.S.A.: McGraw-Hill Companies, Inc, 2011.
11. Ceyhan AM, Yildirim M, Akkaya VB, Yasan H,. Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement. Int J Dermatol 2009; 48: 1346-8.
12. Cohn AM, McFarlane JR, Knox J,. Pachyonychia congenita with involvement of the larynx. Arch Otolaryngol 1976; 102: 233-5.
13. Haber R, Drummond D,. Pachyonychia congenita with laryngeal obstruction. Pediatr Dermatol 2011; 28: 429-32.