SummaryOrgan-specific antibodies were looked for in 26 patients with lichen sclerosus. Ten of the 25 female patients (40%) had organ-specific antibodies to thyroid cytoplasm and 11 (44%) had organ-specific antibodies to gastric parietal cells. Both values were significantly greater than those obtained in age-matched controls. None of the sera from patients with lichen sclerosus contained antibodies to steroid-producing tissues. No organ-specific antibodies were found in the one male patient.The findings suggest that lichen sclerosus may be related to an autoimmune process.
We describe the case of an otherwise healthy 7-year-old girl whose mother noticed that she intermittently smelt of fish. This was due to the intermittent excretion of trimethylamine which could be precipitated by choline ingestion and by eating fish. Excluding eggs, liver and salt-water fish from the diet relieved the symptom. After a standard 15 g choline load, the child's father, but not her mother, excreted amounts of trimethylamine which were intermediate between those excreted by the patient and normal control subjects.
Intestinal permeability was investigated in adult patients with atopic eczema by in vivo and in vitro techniques. Patients with symptoms of 'immediate' food allergy were specifically excluded. A 51Cr-labelled ethylenediaminetetraacetate absorption test was carried out in eighteen patients. Their mean (+/- s.d.) 24-hour urine excretion following oral administration of the test substance (2.1 +/- 0.9%) did not differ significantly from that of thirty-four normal controls (1.9 +/- 0.5%). Small bowel permeability was estimated directly in jejunal mucosal samples in ten patients with three permeability probes of differing molecular weight. Mucosal permeability did not differ significantly from that of fifteen control patients for any of the test substances. Two patients had abnormal results by both tests and in one this was due to coeliac disease. These results suggest that altered intestinal permeability is not important in the pathogenesis of eczema. Patients demonstrating increased intestinal permeability should undergo jejunal biopsy to exclude significant small bowel disease.
Behçet's syndrome is reported in a family of which four generations have so far been affected. The index patient also exhibited an unusual schizo-affective disorder. The histocompatibility antigen haplotype 1-17 was common to four with the disease. Genetic transmission may be responsible for the familial nature of the syndrome and the associated schizophrenia.
Three infants with X-linked ichthyosis have been observed following pregnancies in which placental sulphatase deficiency (PSD) was suggested prenatally by low oestrogen excretion and an abnormal urinary steroid excretion pattern. This was confirmed in two cases by the absence of placental enzyme activity. In one case labour was spontaneous but all deliveries required Caesarean section. At 8 months the first infant showed an eczema in an atopic distribution but when seen at 5 years had typical X-linked ichthyosis. The skin of the second child peeled extensively at the age of 2 days but was not troublesome for 2 years, when ichthyosis vulgaris was diagnosed on clinical grounds. This pattern has persisted for 3 years. The third infant showed a mildly scaly skin in the neonatal period but at 3 months the features and distribution of X-linked ichthyosis were apparent. X-linked ichthyosis may have a variable presentation which is not always apparent at birth.
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