Oculomucocutaneous syndrome

Overview

Oculomucocutaneous syndrome is a descriptive term referring to a group of rare conditions characterized by the simultaneous involvement of the eyes (oculo-), mucous membranes (muco-), and skin (cutaneous). This syndrome is not a single, distinct disease but rather a clinical presentation seen in various systemic disorders, most notably Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). These conditions are considered severe mucocutaneous reactions, often triggered by medications or infections, and can be life-threatening without prompt medical intervention.

In oculomucocutaneous syndromes, patients typically present with conjunctivitis, oral and genital ulcers, and widespread skin lesions. Because the syndrome affects multiple sensitive epithelial surfaces, it requires urgent and multidisciplinary care to prevent complications such as blindness, scarring, and secondary infections.

Causes

Oculomucocutaneous syndrome is most commonly associated with severe drug reactions or infections. The immune system plays a central role in mediating the widespread epithelial injury seen in these conditions.

Common Triggers

• Medications:

  • Antibiotics (especially sulfonamides)

  • Anticonvulsants (e.g., phenytoin, carbamazepine)

  • NSAIDs (e.g., ibuprofen, oxicam derivatives)

  • Allopurinol

• Infections:

  • Mycoplasma pneumoniae

  • Herpes simplex virus

• Idiopathic: In some cases, no clear cause is identified.

Genetic predispositions such as certain HLA types (e.g., HLA-B*1502 in Asians) have been associated with increased risk of severe mucocutaneous reactions to specific drugs.

Symptoms

The hallmark of oculomucocutaneous syndrome is the simultaneous involvement of the skin, eyes, and mucosal surfaces. Symptoms often develop rapidly over a few days and can range from mild to life-threatening.

Ocular Symptoms

• Conjunctivitis: Redness, pain, and tearing of the eyes.

• Photophobia: Sensitivity to light.

• Corneal ulceration: Can lead to scarring or vision loss.

• Symblepharon: Adhesions between the eyelid and eyeball.

• Dry eye syndrome: From damage to lacrimal glands or goblet cells.

Mucosal Symptoms

• Oral ulcers: Painful erosions on the lips, tongue, and inner cheeks.

• Genital ulcers: Red, inflamed lesions on the vulva, penis, or perianal region.

• Nasal crusting and ulceration

• Dysphagia: Difficulty swallowing due to oral and pharyngeal involvement.

Cutaneous Symptoms

• Maculopapular rash: Often starts on the trunk and spreads rapidly.

• Bullae and skin detachment: Epidermal sloughing seen in TEN.

• Positive Nikolsky sign: Skin shears off with gentle pressure.

• Fever and malaise: Common systemic symptoms preceding skin involvement.

Diagnosis

Diagnosis of oculomucocutaneous syndrome is clinical and based on the characteristic presentation of mucosal and cutaneous lesions, especially in the context of a known drug exposure or infection.

• History and physical exam: Identification of recent drug intake, viral illness, and characteristic skin and mucosal findings.

• Skin biopsy: Confirms diagnosis in cases like Stevens–Johnson syndrome or toxic epidermal necrolysis. Histology shows full-thickness epidermal necrosis and minimal inflammation.

• Blood tests: May show elevated inflammatory markers, leukocytosis, electrolyte imbalances, or liver enzyme abnormalities.

• Microbiological testing: To rule out infectious causes (e.g., PCR for Mycoplasma pneumoniae).

• Ophthalmologic evaluation: To assess severity of ocular involvement and guide treatment.

Treatment

Treatment depends on the severity of the presentation and the underlying cause. Early recognition and withdrawal of the offending drug are critical. Severe cases may require hospitalization in a burn unit or intensive care setting.

General Supportive Care

• Immediate discontinuation of the suspected drug

• Fluid and electrolyte management

• Wound care: Non-adhesive dressings, topical antibiotics.

• Nutritional support: Often needed due to oral mucosal involvement.

• Pain control: Analgesics and sedatives as needed.

Ocular Treatment

• Lubricating eye drops: To prevent dryness and promote healing.

• Topical corticosteroids or antibiotics: For inflammation and infection prevention.

• Ophthalmologic interventions: Amniotic membrane grafts or symblepharon rings may be needed in severe cases.

Immunomodulatory Therapy (Controversial)

• Systemic corticosteroids: May reduce inflammation but are debated due to risk of infection.

• Intravenous immunoglobulin (IVIG): Used in TEN for immunomodulation.

• Cyclosporine or TNF-alpha inhibitors: Emerging therapies in select severe cases.

Prognosis

The prognosis of oculomucocutaneous syndrome depends on the underlying condition, the extent of skin detachment, and the speed of treatment. Mild cases resolve with supportive care and drug discontinuation, while severe forms like TEN can have a mortality rate exceeding 30%.

Long-term complications may include:

• Ocular scarring and vision loss

• Chronic dry eye or photophobia

• Genital scarring or strictures

• Skin hyperpigmentation or hypopigmentation

Early intervention, close monitoring, and multidisciplinary care significantly improve outcomes. Survivors often require long-term follow-up with dermatologists, ophthalmologists, and other specialists to manage sequelae and prevent recurrence.