نتایج جستجو برای: aplasia cutis congenital

تعداد نتایج: 127624  

2017
Yasmin Alfayez Sahar Alsharif Adel Santli

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...

2017
Francesca Dini Cristina Tuoni Ilaria Vannozzi Benedetta Toschi Elisabetta Alberti Margherita Nardi Veronica Bertini Angelo Valetto Matteo Giampietri Marco Vuerich Massimiliano Ciantelli Antonio Boldrini Paolo Ghirri

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...

2017
Virender Sekhon

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...

Journal: :Dermatology online journal 2005
M R Vijayashankar

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.

2017
Yasmin Florence Khodeja Islam Charles A. Williams Jennifer Jane Schoch Israel David Andrews

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.

Journal: :The Journal of the Association of Physicians of India 2014
Smita Ramachandran Kirtisudha Mishra Vineeta Vijay Batra

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.

Journal: :medical journal of islamic republic of iran 0
h pour-jafari from the departments o.f*genetics sciences. hamadan. i.r. iran. a sarihi

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...

Journal: :European thyroid journal 2012
Peter N Taylor Bijay Vaidya

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...

Journal: :Faridpur Medical College Journal 2015

Journal: :Case Reports in Dermatological Medicine 2015

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