Epidermolysis bullosa, lethal acantholytic
Alternate names[edit | edit source]
EBLA
Definition[edit | edit source]
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[edit | edit source]
Prevalence is unknown but 3 cases have been reported to date.
Cause[edit | edit source]
- 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[edit | edit source]
Transmission is autosomal recessive.
Onset[edit | edit source]
Onset of the disease is at birth.
Signs and symptoms[edit | edit source]
- 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
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)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
Prognosis[edit | edit source]
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.
Diseases of the skin and appendages by morphology | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cytoskeletal defects | ||||||||||||||||||||
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See also: cytoskeletal proteins
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