Acrodermatitis dysmetabolica in phenylketonuria
نویسندگان
چکیده
منابع مشابه
Acrodermatitis enteropathica.
AIM The aim of the work was the presentation of one case with Acrodermatitis enteropathica. METHODS Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. RESULTS The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total ...
متن کاملAcrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very fe...
متن کاملPhenylketonuria.
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neo...
متن کاملA Case of Acrodermatitis Enteropathica
Clinicians should be mindful of all paediatric skin diseases, which present in a similar manner during the first months of life. Acrodermatitis enteropathica (AE) is a rare, bullous disorder that has a significant impact on the child’s quality of life and is fatal if untreated. AE is either a recessively inherited or a transiently acquired disorder. The hereditary form is caused by a genetic mu...
متن کاملReversible intestinal mucosal abnormality in acrodermatitis enteropathica.
In 3 cases of acrodermatitis enteropathica duodenal biopsy performed at the outset of treatment showed a similar abnormality of the intestinal mucosa. Further biopsies taken during treatment showed progressive improvement of the intestinal mucosa with subsequent complete restoration of the normal cellular and villous pattern. The initial treatment was with expressed human breast milk and oral d...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2019
ISSN: 1875-9572
DOI: 10.1016/j.pedneo.2018.05.005