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Biomedical subjects

M R Judge

Publications and source records attributed to M R Judge.

27 records · Page 2Linked to original sources
PubMed1992

Quantification of n-alkanes in stratum corneum in the hereditary ichthyoses.

Chromatographic assay of n-alkanes in skin showed detectable levels in normal controls and in patients with various forms of hereditary ichthyosis. Raised n-alkanes were found in some, but not all, patients with non-bullous and bullous ichthyosiform erythroderma and in individual patients with lamellar ichthyosis, ichthyosis vulgaris and Netherton's syndrome. The finding of elevated scale n-alkanes is neither consistent in ichthyosis, nor specific to any one type of ichthyosis, and n-alkane assay is not helpful in distinguishing one type of hereditary ichthyosis from another. The source of n-alkanes in ichthyotic scale and their role, if any, in the pathogenesis of ichthyosis remain obscure.

Adolescent↗
PubMed1992

Lethal congenital erythroderma: a newly recognised genetic disorder.

We report 4 patients and their extended families comprising 17 cases, all of whom had congenital exfoliative erythroderma resistant to treatment, associated with failure to thrive and hypoalbuminaemia. All died in the first year of life. This condition appears to be inherited in an autosomal recessive manner and the underlying defect remains unknown.

Consanguinity↗
PubMed1991

Erythroderma, palmoplantar keratoderma and profound failure to thrive in an infant.

The case is reported of a female infant, who at the age of 3 months developed severe erythroderma, marked hyperkeratosis of the palms and soles and subsequently extreme growth failure and intermittent diarrhoea. Her course was complicated by life-threatening infections but detailed investigation revealed no recognized underlying metabolic or immune abnormality.

Dermatitis, Exfoliative↗
PubMed1990

Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome.

Using a histochemical technique, we have demonstrated a consistent deficiency of alcohol (hexanol) dehydrogenase activity within the epidermis and jejunal mucosa of patients with Sjögren-Larsson syndrome. Biochemical assay of the fatty alcohol: NAD oxidoreductase activity in cultured fibroblasts and leukocytes from these patients showed deficient activities compared with controls. The histochemical and biochemical results are complementary, and the simpler histochemical method can be used reliably for initial screening of patients with ichthyosis in whom a diagnosis of Sjögren-Larsson syndrome is suspected.

Alcohol Dehydrogenase↗
PubMed1990

Disseminated porokeratosis in an infant with craniosynostosis.

An infant with craniosynostosis and other congenital defects developed a progressive skin rash from the age of 1 month. Histological examination revealed dyskeratosis and a cornoid lamella suggestive of porokeratosis. This patient is remarkable for the early onset and severity of the skin disease.

Abnormalities, Multiple↗