A 10-year-old female patient, being treated for dystrophic bullous epidermolysis in a Pediatric Hospital, was referred to our Dermoscopy Ambulatory because of a newly observed mole in the submandibular area. Clinically, the lesion presented as an irregular double-colored macule of about 2 cm in diameter, with irregular borders, suspicious of malignancy. Dermoscopy showed a multicomponent patter...

Epidermolysis bullosa (EB) is a congenital genodermatosis, which affects mainly skin and occasionally other organs [1]. Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1]. The most common cause of death is metastasizing squamous cell carcinoma [2]. EB is subdivided into mainly three categories by the location of tissue separati...

Epidermolysis bullosa, a group of heritable blistering disorders, shows extensive phenotypic variability due to mutations in as many as 20 distinct genes. There is no cure for this devastating group of disorders; however, a number of preclinical developments show promise, and some approaches have already reached the stage of early clinical trials. Dystrophic Epidermolysis Bullosa Research Assoc...

Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and mali...

BACKGROUND Epidermolysis bullosa pruriginosa is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by intense pruritus, secondary scratching-induced lesions, and pronounced scarring. OBSERVATIONS We describe a patient with epidermolysis bullosa pruriginosa who was misdiagnosed as having psychogenic pruritus for several years. Except for nail (toenail) dystrophy, no feat...

From the Division of General and Thoracic Pediatric Surgery, Division of Pediatric Dermatology, and the Epidermolysis Bullosa Center, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, Great Ormond Street Hospital for Children, London, UK, St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, Departments of Hand Surgery and Dentistry, Clínica A...

Epidermolysis bullosa is a group of inherited blistering diseases classified into three main sub-groups on the basis of the level of cleavage within the skin. In dominant dystrophic epidermolysis bullosa, characterized by cleavage below the basal lamina, two variants can be distinguished by the presence (Pasini form) or absence (Cockayne-Touraine form) of albo-papuloid lesions. The present stud...

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP ...

BACKGROUND Squamous cell carcinomas and renal failure were reported the causes of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). Death from colonic disease in epidermolysis bullosa (EB) is never reported. CASE PRESENTATION We demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at...