Journal article

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis

N Torkamani, P Phal, R Savarirayan, P Simm, G Varigos, J Wark

Clinical Cases in Mineral and Bone Metabolism | CIC EDIZIONI INT | Published : 2016

Abstract

Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ich - thyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma. Lamellar ichthyosis, which is inherited in an autosomal recessive pattern, shows genetic heterogeneity with the most severe type being due to mutations in the transglutaminase- ..

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