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[Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleeding in children]
A Dibi1, E L El Fahime2, N Mouane3
1Service de pédiatrie IV, hôpital d'enfants de Rabat, faculté de médecine et de pharmacie de Rabat, université Mohamed V-Suissi, Rabat, Maroc.
Insights
Pseudoxanthoma elasticum (PXE), a rare genetic disorder, can manifest as unexplained gastrointestinal bleeding in children. Early diagnosis of PXE is crucial for managing complications and preventing disease progression.
Area of Science:
- Genetics
- Connective Tissue Disorders
- Pediatric Medicine
Background:
- Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder affecting connective tissue, characterized by elastic fiber calcification and fragmentation.
- Gastrointestinal manifestations are uncommon in pediatric PXE but can lead to severe complications.
Observation:
- Two pediatric cases of PXE presented with significant gastrointestinal bleeding.
- Diagnostic findings included hemorrhagic gastroenteritis, normal endoscopy in one case, diffuse abdominal calcifications, vascular disease, and characteristic skin/ocular lesions.
Findings:
- Genetic analysis confirmed PXE by identifying compound heterozygous ABCC6 mutations in one patient and homozygous mutations in the other.
- Specific ABCC6 gene mutations identified were c.2263G>A (p.G755R), c.3421C>T (pR1141X), and 4021G>A (R1164Q).
Implications:
- PXE should be considered in pediatric cases of unexplained gastrointestinal bleeding.
- Early diagnosis of PXE enables proactive management of risk factors and mitigation of disease progression.
Introduction:
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding.
Case Reports:
An 11-year-old boy and a 12-year-old girl were hospitalized for gastrointestinal bleeding. Digestive endoscopy showed hemorrhagic gastroenteritis bulbitis in the first case and it was normal in the second. Abdominal ultrasound showed diffuse linear calcifications in both cases. The diagnosis of PXE was retained based on the presence of vascular disease in both patients, a skin lesion in the girl, and an ocular lesion in the boy. The genetic study confirmed the diagnosis of PXE identifying two ABCC6 mutations in the composite state in the boy: the c.2263G> A (p.G755R) mutation on exon 18 and the c.3421C> T (pR1141X) mutation on exon 24 and the 4021G> A (R1164Q) mutation in the homozygous state of ABCC6 exon 24 in the girl.
Conclusion:
Digestive manifestations are unusual ; however, pseudoxanthoma elasticum should be considered in all cases of gastrointestinal bleeding for no apparent reason. Early diagnosis allows prevention and measures to control the risk factors and limit the progression of complications.
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