نتایج جستجو برای: aplasia cutis congenital
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Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth...
Congenital leukemia is a rare disease with particular biological and clinical characteristics, which differs from those of older children. Its prognosis is generally poor. Its clinical manifestation may vary (hyperleukocytosis, thrombocytopenia, organomegaly) and some patients can develop cutaneous infiltration by leukemic cells (leukemia cutis). We describe a dysmorphic patient with thrombocyt...
Citation: Sekhon V. Aplasia Cutis Congenita of Scalp and Back: A Rare Entity. Ann Clin Case Rep. 2017; 2: 1367. ISSN: 2474-1655 Copyright © 2017 Sekhon V. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Case Report Published: 05 J...
Aplasia cutis congenita is a rare anomaly presenting with absence of skin. The most common site is the scalp. No definite etiology is available. Heredity is proposed with not much evidence. We present an instance with ACC occurring in both mother and son, suggesting a hereditary etiology.
We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.
Aplasia cutis congenita is a rare developmental disorder of the skin of neonates, usually presenting as a solitary lesion over the scalp. We report an interesting presentation of AC along with the histopathological features in a neonate with extensive lesions over scalp as well as in bilaterally symmetrical areas over trunk and thighs; such symmetrical distributions being rarely reported.
congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...
INTRODUCTION Hyperthyroidism in pregnancy is a serious condition and its management is complex. Whilst carbimazole/methimazole (CBZ/MMI) and propylthiouracil (PTU) have similar efficacies in controlling hyperthyroidism, their risk of side effects such as major congenital abnormalities and hepatotoxicity are different. METHODS Various combinations of the terms 'anti-thyroid drugs', 'thionamide...
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