Epidermolysis bullosa, lethal acantholytic

Alternate names

EBLA

Definition

Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.

Epidemiology

Prevalence is unknown but 3 cases have been reported to date.

Cause

• This form of EBS is due to mutations in the DSP (6p24) gene encoding desmoplakin.
• A homozygous nonsense mutation in the JUP gene (17q21) has been reported in a patient with a very similar phenotype.

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission is autosomal recessive.

Onset

Onset of the disease is at birth.

Signs and symptoms

• Erosions are associated with absent nails, universal alopecia, and, in one patient, neonatal teeth.
• Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity, and gastrointestinal, genitourinary and respiratory tract abnormalities.
• Cardiomyopathy has been reported in one case.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Alopecia(Hair loss)
• Anonychia(Absent nails)
• Oral mucosal blisters(Blisters of mouth)
• Skin erosion

5%-29% of people have these symptoms

• Cardiomegaly(Enlarged heart)
• Cardiomyopathy(Disease of the heart muscle)
• Esophageal ulceration(Esophagus ulcer)
• Natal tooth(Born with teeth)

Prognosis

In reported cases, death occurred within the first month of life from multiorgan failure secondary to huge transcutaneous fluid loss or airway obstruction due to mucosal sloughing.