Naevoid hypertrichosis--report of a patient with multiple lesions.

Naevoid hypertrichosis is an unusual congenital disorder consisting of a solitary circumscribed area of terminal hair growth which is not associated with any other systemic abnormalities. We describe a patient with multiple areas of circumscribed naevoid hypertrichosis on the trunk and limbs who also had lipodystrophy at some affected sites.

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.

We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.

Inv dup (15) with mental retardation but few dysmorphic features.

We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in all cases there appears to be an additional G group sized chromosome in which both ends are derived from the short arm, centromere, and proximal long arm of chromosome 15. In most cases there are satellites at both ends of this extra chromosome. We report the first patient from Scotland with similar cytogenetic findings.

Precocious pseudopuberty due to a rare form of congenital adrenal hyperplasia. Biochemical investigation and pitfalls in interpretation of hormone assays.

The biochemical investigation is described of a boy who presented with precocious puberty at the age of 3 years 9 months due to a rare form of congenital adrenal hyperplasia (CAH), steroid 11 beta-hydroxylase deficiency. Serum androgen levels were grossly elevated (17 hydroxyandrogens 10 nmol/l, androstenedione 129 nmol/l), 17 hydroxyprogesterone was modestly elevated (21 nmol/l), while serum gonadotrophins were low and testes were prepubertal in size. The major differential diagnosis was between an androgen-producing tumour and CAH. Initial serum and urine corticosteroid concentrations and their responses to dexamethasone were diagnostically misleading, later found to be due to lack of specificity of the radioimmunoassays and fluorimetric methods employed. Elevated basal plasma ACTH levels and suppression of androgen and ACTH levels by dexamethasone strongly suggested CAH. Definitive diagnosis of an 11 beta-hydroxylase defect was established by capillary column gas liquid chromatography of urine which demonstrated excess androgen and 11-deoxycortisol metabolites but no cortisol metabolites. The diagnosis was confirmed by specific serum assays of 11-deoxycortisol, deoxycorticosterone, and cortisol. The contribution of hormone assays and a protocol for their use in the diagnosis and monitoring of precocious puberty is discussed.

Menetrier's syndrome in children.

Since Menetrier's original description in 1888 many cases of hypertrophic gastritis have been recorded in adults. Only recently has a similar syndrome been described in childhood. The case reported demonstrates the characteristic features of the condition (the duration was rather longer than in other reported cases) and diagnosis, clinical course and aetiology are discussed. In contrast to the adult disease this illness is usually short-lived with full clinical and histological remission occurring within a few months.

Intraepithelial lymphocyte counts in small intestinal biopsies from children with diarrhoea.

We have investigated small intestinal biopsies from children with coeliac disease, acute gastroenteritis, failure to thrive and giardiasis, to find out if a high intraepithelial lymphocyte count is a feature specific to coeliac disease, or whether it is always associated with partial or subtotal villous atrophy. The results indicate that the normal range for childrens' intraepithelial lymphocyte counts is similar to that for adults (around 6-40 lymphocytes per 100 epithelial cells); that counts are high in coeliac disease, but also in some children with giardiasis or with failure to thrive in whom the jejunal biopsy appears otherwise normal; and that intraepithelial lymphocyte counts are normal in acute gastroenteritis even when there is partial villous atrophy with increased lamina propria lymphoid cell infiltrate. Thus, this measurement of small intestinal lymphocyte infiltration may be of diagnostic value is differentiating the diarrhoea of food intolerance from infectious diarrhoeas in young children.

Cell-mediated immunity to gliadin within the small-intestinal mucosa in coeliac disease.

In an attempt to demonstrate local cell-mediated immunity (C.M.I.) to gliadin in patients with coeliac disease, fragments of jejunal-biopsy specimens were cultured in the presence and absence of alpha-gliadin and the culture-medium was assayed for its capacity to inhibit migration of normal human peripheral-blood leucocytes (i.e., for a migration-inhibition factor [M.I.F.]). No M.I.F. activity was detected in the culture-medium when biopsy specimens from patients with coeliac disease or controls were cultured without added antigen. However, an M.I.F. was secreted into the culture-medium when biopsy specimens from patients with coeliac disease were cultured with alpha-gliadin. These findings suggest that there is a population of lymphocytes which are sensitised to gliadin in the intestinal mucosa of patients with untreated coeliac disease. They support the theory that a local C.M.I. reaction to gliadin may be the cause of villous atrophy and crypt hyperplasia in coeliac disease.