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[PDF] An Unusual Missense Mutation in the GJB3 Gene Resulting in Severe Erythrokeratodermia Variabilis

[PDF] from medicaljournals.seM Glatz, MAM van Steensel, M van Geel… - 2011 - medicaljournals.se
Erythrokeratodermia variabilis (EKV, MIM ID #133200) is a rare congenital disorder, usually inherited
as an auto- somal dominant trait (1). EKV is clinically characterized by two morphological
features; namely, more-or-less fixed hyperkeratoses and variable and transient red pat- ...
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A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis

Z Wang - Journal of the European Academy of Dermatology …, 2011 - Wiley Online Library
... A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis.
ZX Wang 1,2,3,† ,; WS Lu 1,2,† ,; H Li 1,3 ,; D Lin 1,3 ,; FS Zhou 1,2 ,; LD Sun 1,2,3 ,; S Yang
1,2,3 ,; XJ Zhang 1,2,3,*. Article first published online: 28 JUN 2010. ...
All 2 versions

Erythrokeratodermia Variabilis with Congenital Deaf-Mutism

HM Nam, UK Kim, K Park… - Korean Journal of Dermatology, 2011 - komci.org
Erythrokeratodermia variabilis is a rare genodermatosis characterized by the coexistence of
randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. A
25-year-old Uzbekistanian female with congenital deaf-mutism presented with well ...
Cached - All 2 versions

Progressive symmetric Erythrokeratodermia.

P Kumar… - Indian pediatrics, 2011 - ncbi.nlm.nih.gov
1. Indian Pediatr. 2011 Apr 7;48(4):337-8. Progressive symmetric Erythrokeratodermia. Kumar
P, Mondal A. Department of Dermatology and STD Medical College and Hospital Kolkata 700
073, West Bengal, India. PMID: 21532109 [PubMed - in process].

Piyush Kumar and Avijit Mondal, Department of Dermatology & STD Medical College and Hospital Kolkata 700 073, West Bengal, India.

P symmetric Erythrokeratodermia - Indian Pediatr, 2011 - indianpediatrics.net
A 3-years-old female child presented with asymptomatic multiple well-defined erythematous
scaly plaques since infancy. She was born of a non-consanguineous marriage and had uneventful
prenatal and natal period. The lesions started appearing in first few months of life first on ...
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