TY - JOUR
T1 - Pachyonychia congenita
T2 - Report of two cases and mutation analysis
AU - Yeh, Jia Ming
AU - Huang, Ching Yuang
AU - Chao, Sheau Chiou
N1 - Funding Information:
This study was supported by grant NSC91-2314-B006-112 from the National Science Council, Taiwan, Republic of China .
PY - 2012/9
Y1 - 2012/9
N2 - Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders that involve ectodermal dysplasia. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratoses, and oral leukokeratosis. Historically, PC has been subdivided into two subtypes, PC-1 or PC-2, on the basis of clinical presentation. However, differential diagnosis based on clinical grounds, especially in young and/or not fully penetrant patients, can be difficult. In addition, clinical analysis of the large case series has shown that there is considerable phenotypic overlap between these two subtypes recently. Based on the advent of molecular genetics and the identification of the genes causing PC, more specific nomenclature has been adopted. Therefore, diagnosis at the molecular level is useful and important to confirm the clinical impression. In this report, we describe two typical cases of PC with mutation analysis revealed a small deletion (514-516delACC, Asn172del) and a point mutation (487 G > A, GAG → AAG, Glu163Lys) in the KRT6A gene.
AB - Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders that involve ectodermal dysplasia. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratoses, and oral leukokeratosis. Historically, PC has been subdivided into two subtypes, PC-1 or PC-2, on the basis of clinical presentation. However, differential diagnosis based on clinical grounds, especially in young and/or not fully penetrant patients, can be difficult. In addition, clinical analysis of the large case series has shown that there is considerable phenotypic overlap between these two subtypes recently. Based on the advent of molecular genetics and the identification of the genes causing PC, more specific nomenclature has been adopted. Therefore, diagnosis at the molecular level is useful and important to confirm the clinical impression. In this report, we describe two typical cases of PC with mutation analysis revealed a small deletion (514-516delACC, Asn172del) and a point mutation (487 G > A, GAG → AAG, Glu163Lys) in the KRT6A gene.
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U2 - 10.1016/j.dsi.2012.01.003
DO - 10.1016/j.dsi.2012.01.003
M3 - Article
AN - SCOPUS:84865468121
SN - 1027-8117
VL - 30
SP - 93
EP - 96
JO - Dermatologica Sinica
JF - Dermatologica Sinica
IS - 3
ER -