Chronic Pulmonary Disease in a Child With the Ehlers‐danlos Syndrome

Abstract

The presence of chronic pulmonary disease is an uncommon finding in the Ehlers-Danlos syndrome. The patient discussed herein presented with severe irreversible obstructive pulmonary disease characterized by marked hyperinflation, an increase in static lung compliance, and tracheal dilatation. A largely normal lung biopsy ruled out chronic pulmonary emphysema. Despite the similarity of this patient to those with the Mounier-Kuhn syndrome, the degree of tracheobronchial enlargement was not as great as is usually seen in this disorder although these anatomic changes may develop with time. The findings in this case demonstrate that any site within the tracheobronchial tree may be involved in the Ehlers-Danlos syndrome and further emphasize the need to determine the degree of reversibility of obstructive lung disease in children.

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)

“…Also, we confirm the finding that TBM is most commonly diagnosed after the third decade of life (81 % of Types 2-4) [28]; the average age of diagnosis (excluding Type 1 patients) is 46.7 years, which is similar to averages found in other studies [4,7] (Fig. 4).…”

“…It is very possible that the co-occurrence in this gentleman was coincidental. Another instance we suspect represents mere coincidence is a child with respiratory infections with joint hypermobility and soft, hyperextensible skin, who was eventually diagnosed with TBM [7]. A skin biopsy was reported as being consistent with Ehlers-Danlos, but the studies performed were not specified.…”

Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins

“…Specific biochemical abnormalities of collagen are known in EDS [4] . Literature review reveal no systematic association between EDS and pulmonary emphysema with only few cases report [5,6] . A more intrinsic correlation was found between Cutis Laxa and pulmonary emphysema [7] .…”