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Lethal acantholytic epidermolysis bullosa
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.
ORPHA:158687Classification level: Disorder
Prevalence is unknown but 3 cases have been reported to date.
Onset of the disease is at birth. 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.
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.
Transmission is autosomal recessive.
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.
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