Mixed Connective Tissue Disease Complicated by Retinal Microvasculopathy and Its Relationship with Fragile-X Syndrome

Purpose: To report an unusual case of retinal microvasculopathy secondary to mixed connective tissue disease (MCTD) on a background history of fragile-X syndrome (FXS). Methods: Case report and literature review. Results: A cotton wool spot was discovered in a 29-year-old female who presented with an ischaemic digit secondary to Raynaud’s phenomenon. She also has a background history of MCTD and FXS. Fundus examination and automated perimetry findings were normal. Magnet resonance imaging and computed tomography aortogram did not demonstrate any evidence of vasculitis in the head and neck. She was tested positively for U1-ribonuclear peptide. Interestingly, the re-distribution of Fragile-X related gene 1 has been suggested to trigger autoimmune responses in experiments. This finding makes the case peculiar as it suggests an alternate explanation for this patient’s clinical findings. Conclusion: Retinal vasculopathy is a rare complication of MCTD. The background history of FXS potentially highlights an alternate autoimmune pathogenetic mechanism.

Malignant atrophic papulosis:Two case reports

BACKGROUND Malignant atrophic papulosis is a rare and potentially lethal thrombo-occlusive microvasculopathy characterized by cutaneous papules and gastrointestinal perforation.The precise pathogenesis of this disease remains obscure.CASE SUMMARY We describe the case of a 67-year-old male patient who initially presented with cutaneous aubergine papules and dull pain in the epigastrium.One week after symptom onset,he was admitted to the hospital for worsening abdominal pain.Exploratory laparotomy showed patchy necrosis and subserosal white plaque lesions on the small intestinal wall,along with multiple perforations.Histological examination of the small intestine showed extensive hyperemia,edema,necrosis with varying degrees of inflammatory reactions in the small bowel wall,small vasculitis with fibrinoid necrosis and intraluminal thrombosis in the mesothelium.Based on the mentioned evidence,a diagnosis of malignant atrophic papulosis was made.We also present the case of a 46-year-old man with known cutaneous manifestations,abdominal pain,nausea and vomiting.His physical examination showed positive rebound tenderness.A computed tomography scan revealed free intraperitoneal air.He required surgical intervention on admission and then developed an esophageal perforation.He ultimately died of a massive hemorrhage.CONCLUSION In previously published cases of this disease,the cutaneous lesions initially appeared as small erythematous papules.Subsequently,the papules became porcelain-white atrophic depression lesions with a pink,telangiectatic peripheral rim.In one of the patients,the cutaneous lesions appeared as aubergine papules.The other patient developed multiple perforations in the gastrointestinal tract.Due to malignant atrophic papulosis affecting multiple organs,many authors speculated that it is not a specific entity.This case series serves as additional evidence for our hypothesis.