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Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity
Author(s) -
LEE Woo Jin,
BAK Hana,
CHANG Sung Eun,
LEE Mi Woo,
CHOI Jee Ho,
MOON Kee Chan,
KOH Jai Kyoung
Publication year - 2009
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2009.00640.x
Subject(s) - pseudoxanthoma elasticum , medicine , dermatology , cutis laxa , pathology , dermis , skin biopsy , anatomy , biopsy
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.