title: Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity.
abstract: Herein, we describe a sporadic case of recessive type 2 pseudoxanthoma elasticum. A 26-year-old woman without family history presented with cutis laxa-like marked wrinkling involving the whole-body and a serpiginous streak on the upper left arm. She denied any other systemic problems related to difficulty with visual acuity or vascular disease. A skin biopsy specimen from the loose skin showed the accumulation of calcified degenerated elastic fibers and foci of ossification in the dermis. Histopathological study from a serpiginous streak revealed mineralized debris that was eliminated through the epidermis, the finding consistent with elastosis perforans serpiginosa. Recessive type 2 pseudoxanthoma elasticum is very rare and the presenting case is interesting in that this patient presented with lesions of secondary ossification and elastosis perforans serpiginosa in association with pseudoxanthoma elasticum.
authors.affiliation: Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Pungnapdong Songpagu, Seoul 138-736, Korea. miumiu@amc.seoul.kr
authors.forename: Woo Jin
authors.initials: WJ
authors.lastname: Lee
authors.forename: Hana
authors.initials: H
authors.lastname: Bak
authors.forename: Sung Eun
authors.initials: SE
authors.lastname: Chang
authors.forename: Mi Woo
authors.initials: MW
authors.lastname: Lee
authors.forename: Jee Ho
authors.initials: JH
authors.lastname: Choi
authors.forename: Kee Chan
authors.initials: KC
authors.lastname: Moon
authors.forename: Jai Kyoung
authors.initials: JK
authors.lastname: Koh
mesh_terms: D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology*