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Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.

ABSTRACT: The association of penile fracture with Ehlers-Danlos syndrome (EDS) has never been described. Our patient is a 41-year-old male with EDS who presented with a traumatic penile fracture, ten days following sexual intercourse. This report recognizes the possible heightened risk of structural penile injury in patients with connective tissue disorders such as EDS and emphasizes a need for a high index of suspicion of occult urethral injury and special considerations in surgical management of these complex cases.

SUBMITTER: Liu JL

PROVIDER: S-EPMC6796720 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.

Liu James L JL Hawksworth Dorota J DJ Burnett Arthur L AL

Urology case reports 20190904

The association of penile fracture with Ehlers-Danlos syndrome (EDS) has never been described. Our patient is a 41-year-old male with EDS who presented with a traumatic penile fracture, ten days following sexual intercourse. This report recognizes the possible heightened risk of structural penile injury in patients with connective tissue disorders such as EDS and emphasizes a need for a high index of suspicion of occult urethral injury and special considerations in surgical management of these c ...[more]

PMID: 31641596

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Project description:Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications.

Dataset Information

Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.

Publications

Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.

Similar Datasets

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