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An estimated 20 per million live births are diagnosed with EB, and 9 per million people in the general population have the condition. Of these cases, approximately 92% are epidermolysis bullosa simplex (EBS), 5% are dystrophic epidermolysis bullosa (DEB), 1% are junctional epidermolysis bullosa (JEB), and 2% are unclassified. Carrier frequency ranges from 1 in 333 for JEB, to 1 in 450 for DEB; the carrier frequency for EBS is presumed to be much higher than JEB or DEB.
The disorder occurs in every racial and ethnic group and affects both sexes.
A 2014 study classified cases into three types—epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), and dystrophic epidermolysis bullosa (DEB) -- and reviewed their times of death. The first two types tended to die in infancy and the last in early adulthood.
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.
"Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.
The deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe blistering.Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may suffer from chronic scarring, webbing, and obstruction of the esophagus. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also suffer from iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.
Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infectionsThe chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.
The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa (RDEB) may cause Small fiber peripheral neuropathy (SFN).; RDEB patients have reported the sensation of pain in line with neuropathic pain qualities.
If a person with Type 1 diabetes who has diabulimia suffers from the disease for more than a short time—usually due to alternating phases during which insulin is injected properly, and relapses, during which they have diabulimia—then the following longer-term symptoms can be expected:
- Severe kidney damage - high blood sugar can overwork the kidneys, eventually leading to kidney failure and the need for a kidney transplant
- Severe neuropathy (nerve damage to hands and feet)
- Extreme fatigue
- Edema (during blood sugars controlled phases)
- Heart problems
- High cholesterol
- Osteoporosis
- Death
Often, people with Type 1 diabetes who omit insulin injections will have already been diagnosed with an eating disorder such as anorexia nervosa, bulimia nervosa These individuals are often not aware that diabulimia is more common than they think and is also very difficult to overcome. Unlike anorexia and bulimia, diabulimia sometimes requires the afflicted individual to stop caring for a medical condition. Unlike vomiting or starving, there is sometimes no clear action or willpower involved. Diabulimia may be more appealing to individuals who want to lose weight.
Many articles and studies further conclude that diabetic females have, on average, higher body mass index (BMI) than do their nondiabetic counterparts. Girls and young adult woman with higher BMIs are also shown to be more likely to have disordered eating behavior (DEB). Many authoritative articles have been published which show that preteen and teenage girls with Type 1 diabetes have significantly higher rates of eating disorders of all types than do girls without diabetes. This condition can be triggered or exacerbated by the need for diabetics to exercise constant vigilance in regard to food, weight and glycemic control. In adolescent females, increased weight gain that insulin treatment can cause may play roles in the increased risk for onset of anorexia and/or bulimia.
There are no specific guidelines for the treatment of diabetes and disordered eating, but the standard approach for treatment of two complex conditions as multidisciplinary team of professionals which in this case could include an endocrinologist, psychiatrist, psychologist, dietician, etc.