Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder. There are many genetic and symptomatic variations of EB, but all share the prominent symptom of extremely fragile skin that blisters and tears from minor friction or trauma. Internal organs and bodily systems can also be seriously affected by the disease. EB is always painful, is often pervasive and debilitating, and is in some cases lethal before the age of 30. There is no treatment or cure. Daily wound care, pain management and protective bandaging are the only options available.

EB affects 1 out of every 20,000 live births and those born with it are often called Butterfly Children because as the analogy goes, their skin is as fragile as the wings of a butterfly. While many who live with the milder forms of EB can lead long and productive lives, the list of manifestations and secondary complications in the more severe forms is long and requires multiple interventions from a range of medical specialists. Those forms of EB result in disfigurement, disability and early death, in some cases in the first few months of life.

EB can result from a genetic mutation in one of 18 genes. These mutations, or errors in the genetic code, do not allow the body to either produce an essential protein or produce a working form of the protein. EB can also be an autoimmune disease in which the body produces antibodies to the structural components of the skin. The severity of EB in general is dependent upon many factors including type, subtype and inheritance pattern. Due to the fact that EB has been categorized as encompassing 5 major types and 31 subtypes, it has commonly been referred to as a group of disorders. EB affects both genders and every racial and ethnic background equally.

EB is PAINFUL – Wounds caused by the disorder may never heal and they are prone to life threatening infections.

EB is PERVASIVE – It affects internal organs as well as the eyes, nose, mouth, throat and anus. The list of secondary complications is long and requires multiple interventions from a range of medical specialists. Some typical complications complications are: infections, anemia, failure to thrive, growth retardation, inability to swallow, corneal abrasions, contractures, depression, anxiety, malnutrition, constipation, premature tooth decay and a particularly virulent form of cancer.

EB is DEBILITATING – In some forms of EB repeated injury and scarring lead to deformity and lack of function in the hands, in the feet and in the mouth.

EB is LETHAL – Some will lose their battle in the first year of life, others may succumb to squamous cell carcinoma in their teens, others from bacterial sepsis (blood infection), cardiomyopathy, renal failure, or dehydration to name a few causes.

Recessive Dystrophic EB – Rafi’s Diagnosis

In Rafi’s case, her body, before transplant, did not produce Collagen 7, the primary building block of something called anchoring fibrils. Think of Rafi’s skin as Velcro. Velcro has latches that intertwine and hold the two pieces together. Those latches are analogous to anchoring fibrils. Rafi does not have those latches, or anchoring fibrils and thus her two layers of skin are unable to bind together. Therefore, her skin blisters and tears with any friction or trauma. Just wearing underwear is enough friction to cause wounds on her.

She has dystrophic EB because of the lack of collagen 7. The lack of this protein, or complete absence of it, means Rafi can’t produce those anchoring filbrils so the epidermis cannot anchor to the dermis. She is considered recessive because both Jackie and I are carriers, something we did not know until she was born. In short, Rafi got two bad copies of the gene, thus resulting in a much more severe form.

Children with Rafi’s diagnosis unfortunately live a difficult life and even worse, her life expectancy isn’t long. 10% died before they were 10, 40% lose their battle before the age of 20 and 72% before 30.

Unfortunately, Rafi has the most severe subtype of Recessive Dystrophic EB, generalized severe, what they used to call Hallopeau-Siemens. From Jo-David Fine, MD, MPH from Vanderbilt University, an internationally known EB expert:

“The most severe subtype of generalized RDEB is referred to as the Hallopeau-Siemens variant. Cutaneous disease activity is present at birth. Patients characteristically develop milia, have absent or dystrophic nails, and develop extensive atrophic scarring. The oral cavity is severely involved with widespread erosions, blisters and soft tissue scarring. Microstamia, ankyloglossia, and caries are marked. Multifactorial anemia and growth retardation are both profound in these patients. A characteristic feature of RDEB-HS is the development of progressive acral contractures and partial or complete mitten deformities (pssudosyndactyly) of the hands and feet…….these musculoskeletal deformities may occur in the first few years of life, but more often occur with increasing age. Disfiguring scaring alopecia of the scalp may occur in some patients. The esophagus, small intestine, and anus may be severely involved, as can the urethra, bladder, vagina, and kidneys (the latter presenting as glomerulonephritis)…… Patients with RDEB-HS are at risk of death during early childhood as a result of overwhelming bacterial sepsis, secondary to widespread denudation of the skin. Patients with RDEB-HS are also at very high risk of developing and eventually dying from skin-derived squamous cell carcinomas during young to middle adulthood”.