Successful maintenance hemodialysis with permanent vascular catheter in a patient with recessive dystrophic epidermolysis bullosa hereditaria

Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Renal failure and infectious disease are strongly associated with morbidity and mortality in patients with severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen). However, it is reportedly difficult to introduce hemodialysis with an arteriovenous fistula (AVF). We encountered a 32-year-old man with RDEB-sev gen in whom hemodialysis with a native AVF was introduced that fav...

Three Brothers with Recessive Dystrophic Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. In the most severe, dystrophic (scarring) forms of EB, blisters form below the cutaneous basement membrane at the level of the anchoring fibrils, which are composed of type VII c...

[NM-310] Critical Airway in a Patient with Recessive Dystrophic Epidermolysis Bullosa Displaying Mild Cutaneous Manifestations

Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa.

B oth epidermolysis bullosa (EB) and nonischemic cardio-myopathy (CM) are rare clinical entities. An association between EB and dilated CM (DCM) has been appreciated for at least 25 years, but a common mechanism of disease has not emerged. 1 In this report, we present a patient with EB and left ventricular noncompaction (LVNC), a newly recognized type of CM. 2 EB is a broad group of diseases ch...

An Adult Patient with a Rare Subform of Recessive Dystrophic Epidermolysis Bullosa Inversa (Gedde-Dahl)

A 53-year-old male patient was referred for evaluation of recurrent erosions of inguinal and anogenital areas, both lower legs and the oral mucosa. In addition, almost all nails and several teeth were lacking, and the residual teeth showed enamel defects. History revealed congenital absence of skin of large parts of the lower legs and widespread blistering in early childhood. Antigen mapping sh...