Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report

Abstract

Rationale: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS.

Patient concerns: We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax.

Diagnoses: Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder.

Interventions: The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS.

Outcomes: Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications.

Lessons: To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the importance of comprehensive physical examination and history-taking, and the clinical suspicion of a possible connective tissue disorder when we encounter cases with atypical presentation and/or unique chest radiologic findings especially in young patients.

Figure 1

Chest X-ray at presentation. Pneumothorax, which accounts for about 40% of the right hemithorax, was observed. Arrows indicate pleural line.

Figure 2

Serial chest CT scans. (A) HRCT scan taken 7 months before this admission (1st attack of pneumothorax-right side) shows nonspecific GGOs in both lower lobes. (B) Conventional CT scan taken 3 months before this admission (2nd attack of pneumothorax-left side) shows the GGOs with waxing and waning pattern compared with previous HRCT. (C) HRCT scan taken after bullectomy for the treatment of 3rd attack of pneumothorax (right side) shows more prominent GGOs and new cystic lesions (arrows) mainly in lower lobes and periphery. Hyperinflation with low attenuation in both lung parenchyma and the resultant interval change in the shape of thorax were also noted. CT = computed tomographic, GGO = ground glass opacity, HRCT = high resolution computed tomography.

Figure 3

Gross findings during video-assisted thoracoscopic lung biopsy. Hypervascular and hemorrhage-like change on the parietal pleura and multifocal bruise-like lesions on the surface of lung parenchyma were noted (arrows and arrowheads, respectively).

Figure 4

Histopathologic findings of the resected lung tissue. (A, B) Low power view shows excessive capillary proliferation and dilated vessels with some hemorrhage (×50 and ×100, respectively). (C) Immunohistochemical staining for CD34, an endothelial cell marker, supports the proliferation of capillary (×200). (D) The excessive interstitial capillary hyperplasia and hemosiderin-containing macrophages were observed in high power view, which is compatible with pulmonary capillary hemangiomatosis (PCH)-like foci (×400).

Figure 5

Skin and joint examination. Hyperflexibility of wrist and metacarpophalangeal joints (A) and swan-neck deformity of finger (B), and hyperextensible, thin, and transparent skin with vein visible (C) were suggestive of Ehlers–Danlos syndrome.