Cases reported "Ichthyosis"

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1/2. sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.

    A large family is reported in which at least four males are, or have been, affected with an unusual form of mental retardation associated with short stature, obesity, hypogonadism and skin disease. Investigations in the proband indicate that the hypogonadism is primary rather than secondary, and that the skin involvement is ichthyosiform. The mode of inheritance is entirely consistent with sex-linkage.
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ranking = 1
keywords = x-linked
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2/2. sex-linked ichthyosis and placental sulphatase C deficiency.

    ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demonstrated histochemically either in the epidermis of these boys, or in the epidermis of adults with sex-linked ichthyosis, whilst it was present in normal controls. In cultured skin fibroblasts steroid-sulphatase activity was extremely low. We conclude that deficiency of steroid sulphatase C or arylsulphatase C or a third functionally linked enzyme is an important factor in the pathogenesis of sex-linked ichthyosis.
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ranking = 2
keywords = x-linked
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