Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa

Dilated cardiomyopathy in dystrophic epidermolysis bullosa.

BACKGROUND Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children. METHODS In the past seven years we have routinely screened patients with severe DEB who have been under the care of this hospital by yearly clinical review, echocardiography, and quantifi...

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...

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...

Dental care management in a child with recessive dystrophic epidermolysis bullosa.

Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, to...

Combined Anesthesia Technique in a Child with Dystrophic Epidermolysis Bullosa