X-linked icthyosis. A sulphatase deficiency.
نویسندگان
چکیده
منابع مشابه
Placental sulphatase deficiency.
INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,0...
متن کاملRecognising placental steroid sulphatase deficiency
bad, with variable results in between. Amputation of a digit is sometimes thought to produce a quicker return to work for the patient than replantation, but this is not borne out by published results."' The outlook in the leg is less clear. Functional results are often poor if a leg is replanted. Nevertheless, filleting may produce useful soft tissue which may be used as a vascularised free tra...
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Congenital Ichyosis is relatively uncommon disease but is the most common cause of Collodian baby. Early diagnosis is required for immediate management and prevention of fluid-electrolyte balance as well as prevention of secondary infections. Definitive diagnosis is essential for long-term management as well as counselling to the parents of affected infant if they are considering having childre...
متن کاملInfantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita.
CONTEXT X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically pre...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1978
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.53.10.803