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Pseudoxanthoma elasticum and calcinosis cutis
1Department of Dermatology, The Mount Sinai Medical Center, New York, NY 10029, USA.
Journal of the American Academy of Dermatology
|July 25, 2000
Summary
This case report details a patient with both calcinosis cutis and pseudoxanthoma elasticum, rare conditions presenting with skin calcifications and eye abnormalities. The findings suggest a potential link or co-occurrence of these distinct dystrophic calcification disorders.
Area of Science:
- Dermatology
- Genetics
- Ophthalmology
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system.
- Calcinosis cutis is a condition involving the deposition of calcium salts in the skin, often associated with metabolic disorders or as a complication of other skin conditions.
Observation:
- A 42-year-old woman presented with clinical and histological evidence of both calcinosis cutis and pseudoxanthoma elasticum.
- Manifestations included milia-like calcifications on the neck, characteristic funduscopic findings, peripheral vascular disease, and mottled skin in the axillae, groin, and neck.
- A sibling exhibited similar skin lesions and progressive vision loss.
Findings:
- The patient was normocalcemic and normophosphatemic, ruling out common metabolic causes for calcinosis cutis.
- The co-presentation of these two rare conditions in the patient and her sibling is noteworthy.
- Histological examination confirmed the presence of both conditions.
Implications:
- This case raises questions about a potential association between calcinosis cutis and pseudoxanthoma elasticum.
- It may represent a coincidental occurrence of two rare diseases or indicate an underlying shared pathomechanism for dystrophic calcification in PXE.
- Further research is needed to explore the genetic and molecular links between these conditions.