نتایج جستجو برای: cutis marmorata telangictatica congenital
تعداد نتایج: 122724 فیلتر نتایج به سال:
Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient wa...
La cutis marmorata telangiectatica congenita (CMTC) est une anomalie vasculaire rare d'aspect clinique caractéristique. De nombreuses associations ont été rapportées avec cette malformation vasculaire, cependant, son association avec un lupus néonatal a été rarement décrite. Nous rapportons l'observation d'un nourrisson de 3 mois qui présentait des stries érythémato-violacées livédoides diffuse...
reticular erythematous patch over her right thigh, which had been present since birth. The lesion did not disappear with warming. Her parents had also noticed a discrepancy in the size of her lower limbs, with relative atrophy of the right thigh. Aside from dermal melanocytosis (patches of hyperpigmentation), cutaneous lesions were absent from other areas of the skin, including the head and nec...
Sir, Cutis vertices gyrata (CVG) is characterized by thickening of the scalp, which becomes raised to form ridges and furrows resembling the cerebral gyri, which cannot be flattened by traction or pressure. The diagnosis is based on clinical features, and further investigations are needed to demonstrate the precise typical features. We describe how three-dimensional magnetic resonance imaging (...
In 2005, Kreidstein first proposed the term "Cutis pleonasmus," a Greek term meaning "redundancy," which refers to the excessive skin that remains after massive weight loss. Cutis pleonasmus is clearly distinguishable from other diseases showing increased laxity of the skin, such as pseudoxanthoma elasticum, congenital and acquired generalized cutis laxa. Although individuals who are severely o...
ABSTRACT Cutis laxa is a congenital disorder transmitted as autosomal ressesive and dominate trait. This disorder has an acquired form that develops after febrile illness or skin inflammatory fisease. A 5 month old girl with generalized loose skin and these facial features including a hooked nose with everted nosetrils, long filtrom, high arch palate, wide fontanels, hypertelorism, e...
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date...
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