Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report

Table 2 Diagnostic criteria for vascular Ehlers-Danlos syndrome

Major criteria
1. Family history of vascular Ehlers-Danlos syndrome with a documented causative variant in the COL3A1 gene
2. Arterial rupture at a young age
3. Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology
4. Uterine rupture during the third trimester in the absence of previous Caesarean section and/or severe peripartum perineum tears
5. Carotid–cavernous sinus fistula (CCSF) formation in the absence of trauma
Minor criteria
1. Bruising unrelated to identified trauma and/or in unusual sites, such as the cheeks and back
2. Thin, translucent skin with increased venous visibility
3. Characteristic facial appearance
4. Spontaneous pneumothorax
5. Acrogeria
6. Talipes equinovarus
7. Congenital hip dislocation
8. Hypermobility of small joints
9. Tendon and muscle rupture
10. Keratoconus
11. Gingival recession and gingival fragility
12. Early onset varicose veins (younger than age 30 and nulliparous if female)

Minimal criteria suggestive for vEDS: A family history of the disorder, arterial rupture or dissection in individuals aged less than 40 years, unexplained sigmoid colon rupture, or spontaneous pneumothorax in the presence of other features consistent with vEDS should all lead to diagnostic studies to determine if the individual has vEDS. Testing for vEDS should also be considered in the presence of a combination of the other “minor” clinical features listed above

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