Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity.
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.
Lee
Woo Jin
WJ
Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Pungnapdong Songpagu, Seoul 138-736, Korea. miumiu@amc.seoul.kr
Bak
Hana
H
Chang
Sung Eun
SE
Lee
Mi Woo
MW
Choi
Jee Ho
JH
Moon
Kee Chan
KC
Koh
Jai Kyoung
JK
D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology*