Pseudoxanthoma Elasticum.

Area of Science:

• Dermatology
• Genetics
• Ophthalmology

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting connective tissue, characterized by calcification of elastic fibers.
• The Gronblad Strandberg syndrome is a specific manifestation of PXE, often involving angioid streaks in the eyes and skin changes.
• Leprosy is an infectious disease caused by Mycobacterium leprae, primarily affecting the skin, peripheral nerves, and upper respiratory tract.

Observation:

• Three distinct cases of pseudoxanthoma elasticum were documented.
• One patient presented with features consistent with Gronblad Strandberg syndrome, concurrently diagnosed with lepromatous leprosy.
• The remaining two cases involved siblings, suggesting a potential hereditary component.

Findings:

• The co-occurrence of Gronblad Strandberg syndrome and lepromatous leprosy in one case highlights a rare clinical association.
• The presentation in siblings underscores the genetic predisposition and inheritance patterns of PXE.
• Literature review provides context for these unique presentations within the spectrum of PXE.

Implications:

• These cases expand the understanding of PXE's clinical variability and potential comorbidities.
• The association with leprosy warrants further investigation into shared immunological or genetic factors.
• Further research into PXE and its syndromic associations can improve diagnostic and management strategies.