Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen

作者：Frew John; Lim Shueh W; Klausseger Alfred; Chow Chung W; Tran Kim; Su John; Orchard David; Varigos George; Sawamura Daisuke; Nishie Wataru; Shimizu Hiroshi; Murrell Dedee F^*

来源：Australasian Journal of Dermatology, 2011, 52(4): E1-E4.

DOI：10.1111/j.1440-0960.2010.00684.x

• bullous dermolysis of the newborn
• genodermatoses
• type VII collagen

Bullous dermolysis of the newborn is an inherited mechano-bullous disorder classed as a rare subtype of dystrophic epidermolysis bullosa. Fewer than 30 cases of bullous dermolysis of the newborn have been reported in the literature and the pathogenesis of the disease is poorly understood. Only a minority of cases have had pathogenic mutations identified. We present a case of a neonate born to non-consanguineous Caucasian parents with an exon 54 (c.5017G > A, p.G1673R) mutation reported as one mutant allele in a case of recessive dystrophic epidermolysis bullosa (generalized other).

• 出版日期2011-11