TY - JOUR
T1 - Inflammatory peeling skin syndrome caused a novel mutation in CDSN
AU - Telem, Dana Fuchs
AU - Israeli, Shirli
AU - Sarig, Ofer
AU - Sprecher, Eli
PY - 2012/4
Y1 - 2012/4
N2 - Generalized peeling skin syndrome (PSS) is a rare autosomal recessive dermatosis manifesting with continuous exfoliation of the stratum corneum. The inflammatory (type B) subtype of PSS was recently found to be caused by deleterious mutations in the CDSN gene encoding corneodesmosin, a major component of desmosomal junctions in the uppermost layers of the epidermis. In the present study, we assessed a 10-month-old baby, who presented with generalized superficial peeling of the skin. Using PCR ampliWcation and direct sequencing, we identified the third PSS-associated mutation in CDSN, a homozygous 4 bp duplication in the second exon of the gene (c.164-167dup GCCT; p.Thr57ProfsX6). These data further support the notion that corneodesmosin deficiency impairs cell-cell adhesion in the upper epidermis, paving the way for an abnormal inflammatory response due to epidermal barrier disruption.
AB - Generalized peeling skin syndrome (PSS) is a rare autosomal recessive dermatosis manifesting with continuous exfoliation of the stratum corneum. The inflammatory (type B) subtype of PSS was recently found to be caused by deleterious mutations in the CDSN gene encoding corneodesmosin, a major component of desmosomal junctions in the uppermost layers of the epidermis. In the present study, we assessed a 10-month-old baby, who presented with generalized superficial peeling of the skin. Using PCR ampliWcation and direct sequencing, we identified the third PSS-associated mutation in CDSN, a homozygous 4 bp duplication in the second exon of the gene (c.164-167dup GCCT; p.Thr57ProfsX6). These data further support the notion that corneodesmosin deficiency impairs cell-cell adhesion in the upper epidermis, paving the way for an abnormal inflammatory response due to epidermal barrier disruption.
KW - CDSN
KW - Mutation
KW - Skin
UR - http://www.scopus.com/inward/record.url?scp=84862856026&partnerID=8YFLogxK
U2 - 10.1007/s00403-011-1195-z
DO - 10.1007/s00403-011-1195-z
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C2 - 22146835
AN - SCOPUS:84862856026
SN - 0340-3696
VL - 304
SP - 251
EP - 255
JO - Archives of Dermatological Research
JF - Archives of Dermatological Research
IS - 3
ER -