TY - JOUR
T1 - Dystrophic epidermolysis bullosa pruriginosa in Italy
T2 - Clinical and molecular characterization
AU - Drera, B.
AU - Castiglia, D.
AU - Zoppi, N.
AU - Gardella, R.
AU - Tadini, G.
AU - Floriddia, G.
AU - de Luca, N.
AU - Pedicelli, C.
AU - Barlati, S.
AU - Zambruno, G.
AU - Colombi, M.
PY - 2006/10
Y1 - 2006/10
N2 - Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical and molecular characterization of seven Italian DEB patients, three affected with recessive DEB-Pr and four with dominant DEB-Pr. In all the patients, the signs were typical of a mild DEB phenotype, until the onset of pruritus, which was followed by worsening of the clinical picture, with appearance of the distinctive lichenified lesions of DEB-Pr. Nine mutations were found in the COL7A1 gene, three of which were novel and one was de novo. DEB-Pr patients with either dominant or recessive mutations were shown to synthesize a normal or variably reduced amount of type VII collagen, which was correctly deposited at the dermal-epidermal junction. Since six of these mutations have been reported in DEB patients in the absence of intense pruritus, these data implicate a role of yet unidentified phenotype-modifying factors in the pathogenesis of DEB-Pr.
AB - Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical and molecular characterization of seven Italian DEB patients, three affected with recessive DEB-Pr and four with dominant DEB-Pr. In all the patients, the signs were typical of a mild DEB phenotype, until the onset of pruritus, which was followed by worsening of the clinical picture, with appearance of the distinctive lichenified lesions of DEB-Pr. Nine mutations were found in the COL7A1 gene, three of which were novel and one was de novo. DEB-Pr patients with either dominant or recessive mutations were shown to synthesize a normal or variably reduced amount of type VII collagen, which was correctly deposited at the dermal-epidermal junction. Since six of these mutations have been reported in DEB patients in the absence of intense pruritus, these data implicate a role of yet unidentified phenotype-modifying factors in the pathogenesis of DEB-Pr.
KW - COL7A1
KW - Dermal
KW - Dystrophic epidermolysis bullosa pruriginosa
KW - Epidermal junction
KW - Mutation detection
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U2 - 10.1111/j.1399-0004.2006.00679.x
DO - 10.1111/j.1399-0004.2006.00679.x
M3 - Article
C2 - 16965329
AN - SCOPUS:33748335682
VL - 70
SP - 339
EP - 347
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 4
ER -