Collodion babies with Gaucher's disease.
نویسندگان
چکیده
Two neonates with acute infantile cerebral Gaucher's disease had prominent collodion skin. Ichthyosis has been described in some cases of metabolic lipid disorders, however, this is the first report of the association of lamellar desquamation of the newborn (collodion baby) with Gaucher's disease.
منابع مشابه
A Rare Case Report of a Collodion Baby with Severe Hypernatremia
Background: Collodion baby is a rare condition (i.e., 1:300000 birth), which is referred to a neonate covered with a tight and shiny membrane desquamating within two weeks. This condition takes place as a result of the epidermal cornification disorder. Given the impairment of the skin barrier function, these neonates are at the risk of several complications, including hypernatremic dehydration,...
متن کاملNovel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.
Collodion babies are newborns encased in a glistening membrane that cracks in a characteristic manner within 48 h and desquamates in large lamellae after a few days. Most collodion babies later develop one of the several types of autosomal recessive congenital ichthyoses (ARCI), such as lamellar ichthyosis (LI) or congenital ichthyosiform erythroderma; however, about 10% heal spontaneously (1)....
متن کاملA New Born with Lamellar ichthyosis(Collodion Baby).
Ichthyosisis an infrequent clinical entity worldwide with an incidence of 1:600,000 births. It can be one of the two types: collodion baby and Harlequin fetus or malignant keratoma (most severe form). The clinical manifestations in either form are thick and hard skin with deep splits. Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin that is shed 10 - 14 day...
متن کاملSpecific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
BACKGROUND Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. OBSERVATIONS We report genotypi...
متن کاملA familial concurrence of schizophrenia and Gaucher's disease
BACKGROUND Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings. METHODS Presentation of a family with two siblings with Gaucher's disease. RESULTS In a six-member family, the first son suffers from schizophrenia, while the third and fourth sons suffe...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 63 7 شماره
صفحات -
تاریخ انتشار 1988