Facial subcutaneous emphysema in a patient with connective tissue disorder

Abstract

A 47-year-old woman presented to the emergency department with sudden onset of swelling in her face, which had been triggered by blowing her nose. She had no other symptoms, but was known to have Ehlers-Danlos syndrome. A CT confirmed bilateral subcutaneous facial emphysema attributed to a defect in her left nasal cartilage. The condition was managed conservatively with prophylactic antibiotics and self-resolved within 48 hours. Only eight cases of sudden facial subcutaneous emphysema following nose blowing or sneezing have been found in the English literature and this is the first known case in a patient with a connective tissue disorder. In this case, her condition is suspected to have contributed to her presentation and may be underlying in other similar cases.

Background

Sudden onset of facial subcutaneous emphysema is rare with only eight reported cases following nose blowing or sneezing. We believe this is the first reported case in a patient with Ehlers-Danlos syndrome and may be a useful presenting symptom in patients with undiagnosed connective tissue disorders.

Case presentation

A 47-year-old woman presented to the emergency department with sudden onset of swelling of her face, which had been triggered by blowing her nose. On examination, she had widespread bilateral surgical emphysema restricted to the face and palpable crepitus, but no associated respiratory compromise or systemic symptoms. She had no previous history of facial trauma, surgery or prior episodes of emphysema; however, she was known to have Ehlers-Danlos type II/III syndrome.

Investigations and management

A paranasal sinus CT scan confirmed extensive bilateral surgical emphysema within the facial subcutaneous soft tissues extending from the nasal cartilage to the forehead (figure 1). The CT scan also identified a defect in the left nasal cartilage (figure 2), confirmed on anterior rhinoscopy, which had allowed air to track into the soft tissues. The condition was managed conservatively with prophylactic oral antibiotics and had fully resolved within 48 hours.

Figure 1.

Coronal CT scan showing subcutaneous emphysema.

Figure 2.

Coronal CT scan showing defect in left alar cartilage.

Outcome and follow-up

Following discharge, she was followed up in the outpatient clinic and advised to avoid vigorously blowing her nose and has had no further recurrences. Given its effect on collagen breakdown, she was also investigated for alpha-1 antitrypsin deficiency, which proved negative (alpha-1 antitrypsin level 1.18, and A1AT and AAT genotypes both normal).

Discussion

Facial subcutaneous emphysema is a rare condition, which arises when air is trapped underneath the facial skin, leading to swelling and crepitus on palpation and the potential for air to spread along fascial planes.¹ A literature search retrieved less than 200 reported cases typically secondary to iatrogenic injury following dental, ear, nose and throat, maxillofacial surgery or intubation.^2–5 Other causes included trauma, high pressure ventilation or migration from other subcutaneous tissue, including from perforated bowel.^6–8 Only eight cases of sudden onset of facial subcutaneous emphysema following nose blowing or sneezing have been previously documented^9–16 and all of these involved fractures of orbital bones, particularly the lamina papyracea secondary to increased pressure. We believe this is the first reported case where the underlying defect occurred in the nasal cartilage rather than the facial bones and where the patient had an existing connective tissue disorder.

A CT of paranasal sinus proved to be a quick and effective method of confirming the subcutaneous emphysema and identifying the defect, which was confirmed on clinical examination. The condition was managed conservatively and self-resolved within 48 hours; however, it is important to consider associated risks, such as pneumomediastinum or airway compromise resulting from air migrating along the fascial planes or secondary subcutaneous infection.^{1 10} The latter can be partially protected against with prophylactic antibiotics.

In this case, the patient already had a diagnosis of Ehlers-Danlos syndrome, which most likely contributed to the defect. These syndromes are a group of 13 genetic connective tissue disorders resulting in weak or insufficient collagen.¹⁷ This can cause multiple symptoms, including joint hypermobility and dysfunction, skin and vascular complications as well as weaknesses in cartilage.¹⁵ No cure currently exists and treatment involves targeted symptom management depending on the nature and severity of the condition.¹⁸

As this is the first reported case of subcutaneous facial emphysema in this patient group, it may prove to be a useful presenting symptom for connective tissue disease. In further cases of sudden onset of subcutaneous facial emphysema, we would recommend screening for connective tissue disorders through the patient’s history, examination and subsequent biochemical and genetic testing.

Learning points.

• Facial subcutaneous emphysema is a rare condition and usually occurs secondary to iatrogenic injury, trauma or migration from other tissues.

• Subcutaneous facial emphysema following nose blowing is even less common and underlying connective tissue disease should be screened as a pre-disposing factor.

• The condition can be managed conservatively, but associated risks, including infection, airway compromise and pneumomediastinum, need to be considered.