Pseudoxanthoma elasticum veiled as vasculitis: shedding light on an uncommon disorder and an in-depth review of the literature.

Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder caused by an autosomal recessive mutation in the ABCC6 gene. It manifests with distinctive clinical symptoms impacting the skin, eyes, and cardiovascular system, along with an elevated risk of cardiovascular diseases. We present a case of a 34-year-old male patient who was initially referred to the rheumatology clinic for evaluation due to suspected large vessel vasculitis. The patient's primary complaint was severe hemifacial pain radiating to the neck and upper limb. Radiological imaging studies unveiled substantial vascular narrowing and collateral vessel formation, prompting further investigation to exclude systemic vasculitis. Intriguingly, the patient also exhibited cutaneous manifestations, which were later confirmed via skin biopsy as consistent with PXE. An ophthalmological examination further revealed the presence of the classic PXE findings of angioid streaks. Given the rarity of PXE and its multifaceted clinical presentation, it can be particularly challenging to diagnose and manage. As such, cases like the one presented here may necessitate a referral to a rheumatologist for evaluation of potential systemic involvement. To provide a comprehensive perspective on PXE, we conducted a systematic review of case reports published in the past decade in English, collected from PubMed, Scopus, and the Directory of Open Access databases. The analysis of these cases will be discussed to shed light on the diversity of PXE's clinical features and the diagnostic and management dilemmas it poses and to facilitate ongoing exploration and research into this intricate condition, ultimately leading to improved care for individuals affected by PXE.

Intussusception in a 4-Year-Old Male Due to Burkitt Lymphoma.

Intussusception is the invagination of a proximal bowel segment into a distal segment causing bowel obstruction, especially in children. In some cases, it can be caused by a pathological lead point, such as Burkitt lymphoma. Burkitt lymphoma has several patterns of clinical presentations, such as jaw or facial bone tumor in the endemic form, in contrast to an abdominal presentation most often with massive disease and ascites. We describe a case of a 4-year-old male who presented bowel obstruction. Using X-ray and ultrasound findings, ileocecal intussusception was then diagnosed. Resection and anastomosis was performed after multiple trials of failed hydrostatic reduction. On the pathology report of the resected segment, Burkitt lymphoma was found to be the cause and chemotherapy was initiated. The patient is doing well and is following up every 6 months for 2 years. A pathological lead point, especially Burkitt lymphoma, should be suspected in patients with failed conservative treatment, and prompt diagnosis of the pathology should be performed to prevent further sequela of the disease.