A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa
نویسندگان
چکیده
منابع مشابه
Epidermolysis Bullosa Puriginosa: Report of a Case
Epidermolysis Bullosa Puriginosa is a genetic mechanobullous disease characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions that appear at birth or later. Scarring and prurigo are most prominent on the shins. Herein, we report a case with a history of blisters since childhood foll...
متن کاملPrenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...
متن کاملEpidemiology 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...
متن کاملA Newborn with Epidermolysis Bullosa
Bullous disorders of newborn are a rare entity. Genetically inherited bullous disorders, especially the dystrophic and junctional types have a fatal course (1). Breach of the epidermis in the newborn predisposes them to sepsis.
متن کاملDystrophic epidermolysis bullosa: a review
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...
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ژورنال
عنوان ژورنال: Ultraschall in der Medizin - European Journal of Ultrasound
سال: 2018
ISSN: 0172-4614,1438-8782
DOI: 10.1055/a-0720-8983