[Pseudoxanthoma elasticum: a study of 22 cases].

Area of Science:

• Genetics
• Dermatology
• Ophthalmology
• Vascular Medicine

Context:

• Pseudoxanthoma elasticum (PXE) is a rare, inherited disorder impacting elastic tissues.
• It affects the skin, eyes, and vascular system, leading to significant morbidity.
• Understanding its epidemiology and clinical spectrum is crucial for diagnosis and management.

Purpose:

• To delineate the epidemiological and clinical characteristics of Pseudoxanthoma elasticum (PXE) within a hospital-based cohort.
• To identify common clinical manifestations, potential risk factors, and patterns of inheritance.
• To guide diagnostic and management strategies for PXE patients.

Summary:

• A 19-year study of 22 PXE patients (15 female, 7 male, mean age 36.1) revealed frequent parental consanguinity (10 cases) and autosomal recessive transmission.
• All patients presented with characteristic cutaneous signs; two had associated elastosis perforans serpiginosa.
• Ophthalmologic findings included angioid streaks (6/13 patients), while cardiac evaluations showed no specific PXE abnormalities.
• Histological confirmation was consistent across all cases.

Impact:

• This study underscores the importance of cutaneous lesions as early indicators of PXE.
• It emphasizes the utility of family history, particularly among siblings, in suspecting the disorder.
• Recommendations include regular follow-up and laboratory investigations to detect asymptomatic visceral involvement, improving patient outcomes.