X linked recessive ichthyosis: Current concepts

Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis.

Diagnosis of recessive X-linked ichthyosis: quantitative HPLC/mass spectrometric analysis of plasma for cholesterol sulfate.

A specific, accurate liquid-chromatographic/mass-spectrometric (HPLC/MS) method for measurement of cholesterol sulfate in plasma from normal individuals and patients with recessive X-linked ichthyosis (RXLI) is described. The method is superior to previously described techniques because it measures the analyte intact rather than after hydrolysis. Traces of free cholesterol in the sample analyze...

Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

Patients with recessive X-linked ichthyosis, one of the inherited types of excessive stratum corneum cohesion, have deficient steroid sulfatase in fibroblasts grown from their dermis. Because of the expense and long period required to grow such cells, we have assayed this enzyme in peripheral blood leukocytes and found it to be undetectable in those from patients with this type of ichthyosis, b...

Autosomal recessive congenital ichthyosis.

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...

X-linked recessive bulbospinal neuronopathy (SBMA).

X-linked recessive bulbospinal neuronopathy (SBMA) is an adult onset motor neuronopathy with androgen receptor (AR) gene mutation of expanded CAG repeat size in the first exon. The size of CAG repeats in the AR gene is one of the determinant factors of the severity and progression rate of SBMA phenotypes, but the meiotic and somatic instability of CAG repeats is far more stable as compared with...