Lethal cardiomyopathy in epidermolysis bullosa associated with amitriptyline.
نویسندگان
چکیده
There are previous reports of dilated cardiomyopathy (DCM) in recessive dystrophic epidermolysis bullosa (RDEB), a debilitating blistering skin disorder. The pathogenesis of DCM in RDEB remains uncertain, although dietary deficiency of selenium and carnitine have been implicated. A 6 year old girl with RDEB who died of DCM is reported; attention is drawn to the possible role of two potentially cardiotoxic drugs, amitriptyline and cisapride.
منابع مشابه
Epidermolysis Bullosa associated with pyloric stenosis: A case report
Epidermolysis bullosa are a group of hereditary skin diseases manifested as blisters on the sites of trauma to the skin. According to the level of blister development, epidermolysis bullosa are divided into the following groups: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. The latter two groups are associated with poorer prognosis and hig...
متن کاملDilated 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...
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 کاملLethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
Desmoplakin is the major linker in desmosomes in epithelia and myocardium, anchoring intermediate filaments by the C-terminus to plakoglobin and plakophilin in the desmosomal plaque. Mutations in the gene DSP encoding desmoplakin have been associated with various phenotypes affecting skin and/or heart. One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized b...
متن کاملA newborn presenting with epidermolysis bullosa with duodenal atresia: A very rare case report and review of the literature
Background: Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, which are characterized by blistering of the skin and mucosa, in response to little or no apparent trauma. These disorders represent heterogeneous phenotypes and are associated with various complications ranging from localized skin fragility to neonatal death. Nevertheless, the term "Epi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 90 8 شماره
صفحات -
تاریخ انتشار 2005