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Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity
Woo Jin Lee1, Hana Bak, Sung Eun Chang
1Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Pungnapdong Songpagu, Seoul 138-736, Korea. miumiu@amc.seoul.kr
The Journal of Dermatology
|April 23, 2009
Summary
This study details a rare case of recessive type 2 pseudoxanthoma elasticum in a woman presenting with widespread skin wrinkling and a unique skin lesion. The findings highlight unusual co-occurring conditions in this rare genetic disorder.
Area of Science:
- Dermatology
- Medical Genetics
- Pathology
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by abnormal mineralization of elastic fibers.
- Recessive type 2 PXE is exceptionally rare, with limited documented cases.
Observation:
- A 26-year-old woman presented with generalized cutis laxa-like wrinkling and a serpiginous streak on her arm.
- She had no family history of PXE and denied visual or vascular issues.
Findings:
- Skin biopsy revealed calcified, degenerated elastic fibers and dermal ossification.
- Histopathology of the streak showed mineralized debris extruding through the epidermis, consistent with elastosis perforans serpiginosa.
Implications:
- This case expands the clinical spectrum of recessive type 2 PXE.
- The co-occurrence of secondary ossification and elastosis perforans serpiginosa offers insights into PXE pathogenesis.
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