Congenital Absence of Skin on the Right Leg and Nail Abnormalities-Epidermolysis Bullosa or Bart’s Syndrom ?

[Congenital epidermolysis bullosa: a review].

Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapie...

Congenital pyloric atresia and epidermolysis bullosa.

Bullous Mastocytosis Mimicking Congenital Epidermolysis Bullosa

A 2-month-old female infant was referred to DebRA Mexico from the Regional Children's Hospital because of a generalized dermatosis from birth characterized by multiple blisters and erosions on the trunk, face and limbs, associated with minor trauma. A skin biopsy showing subepidermal blisters associated with a dermal infiltrate of Giemsa-positive cells and CD117-positive antibody was consistent...

Dystrophic epidermolysis bullosa presenting as scarring skin eruptions and nail dystrophy

Yau Ma Tei Dermatology Clinic, 12/F, Yau Ma Tei Specialist Clinic, 143 Battery Street, Kowloon, Hong Kong A 57-year-old Chinese gentleman presented with pruritic skin eruptions located mainly over the shins since childhood. Scratching resulted in skin blister and finally scarring. He also had nail dystrophy over the fingers and toes since childhood. Incisional skin biopsy for histology and elec...

Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.

OBJECTIVE To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. DESIGN Observational study (cross-sectional and longitudinal). SETTING Australian private dermatology practice, inpatient ward, and outpatient clinic. PATIENTS Systematic case finding of patients with EB simplex, junctional EB (JEB...