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.
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju