Familial erythrokeratodermia variabilis with pustular lesions: a new variant?
We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Five out of 30 patients noted episodes of pustule-like lesions during their disease course. Histological examination of the proband showed granular cell vacuolation and upper-epidermal neutrophil aggregates. Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected. These unusual presentations suggested a new phenotypic and genetic correlation in this Chinese pedigree of erythrokeratodermia variabilis.
Zhang
Li
L
State Key Department of Dermatology, No.1 Hospital of China Medical University, Shenyang 110001, China.
Huo
Wei
W
Gao
Xing-Hua
XH
Ma
Lei
L
Xiu
Yuhong
Y
Zheng
Song
S
Hong
Yuziao
Y
Chen
Hong-Duo
HD
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D056266:Erythrokeratodermia Variabilis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006813:Humidity / Q000009:adverse effects; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011537:Pruritus / Q000235:genetics / Q000473:pathology; D012307:Risk Factors; D012867:Skin / Q000473:pathology*; D017365:Spices / Q000009:adverse effects; D013472:Sunlight / Q000009:adverse effects; D055815:Young Adult