Endocrine Abstracts

Introduction: Pseudoxanthoma elasticum (PXE), a multisystem heritable disorder, is characterized by ectopic mineralization of soft connective tissues. It is an autosomal recessive disorder in which mutations in the ABCC6 gene result in low levels of inorganic pyrophosphate (PPi).

In its classic form, PXE is a late-onset, slowly progressing disease, and the major clinical problems relate to development of vascular complications, including hypertension, intermittent claudication, occasional rupture and bleeding of gastrointestinal blood vessels, and, rarely, early myocardial infarcts and strokes. We report a case of PXE.

Observation: A 18 year-old female patient presented a 1 year history of yellow papules on the lateral sides of the neck. She denied systemic symptoms and family history of similar findings. Her medical history included type 1 diabetes treated with insulin evolving since 11 years. Physical examination revealed white-to-yellowish millimetric non-follicular papules on the lateral aspects of the neck, blood pressure at 120/80 mmHg, heart rate at 76 bpm, peripheral pulse was weak and body mass index (BMI) was 25.84 kg/m². The electrocardiogram was normal. In biology: creatinine was correct (45 umol/l), microalbiminuria was negative (6 mg/24 H), total cholesterol: 3.22 mmol/l, HDL-cholesterol: 0.94 mmol/l, trigyceride: 0.62 mmol/l, LDL-cholesterol: 0.77 g/l. Transthoracic heart ultrasound showed myocardial involvement with the presence of intramyocardial calcification. Ophthalmological investigation performed was unremarkable.

Conclusion: The association of PXE and diabetes can be harmful because of cardiovascular complications which can be worsening in a reciprocal way. The cause of PXE remains unclear, and some etiopathogenic theories have been proposed: ultraviolet radiation, intrinsic aging, abnormal elastogenesis, and genetic or inheritable factor.