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Biomedical subjects

M Kerr-Muir

Publications and source records attributed to M Kerr-Muir.

7 recordsLinked to original sources
PubMed2000

Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome.

A 21-year-old woman presented with non-bullous congenital ichthyosiform erythroderma; she was born a collodion baby. Associated features were ocular albinism, anterior segment dysgenesis of both eyes and Noonan syndrome. X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the X chromosome. The ichthyosis and ocular albinism in the present case, however, are likely to be of the autosomal recessive type - a very rare association - and the combination with Noonan syndrome has not been reported previously.

Adult↗
PubMed1998

Mucous membrane pemphigoid: a dual circulating antibody response with IgG and IgA signifies a more severe and persistent disease.

Mucous membrane pemphigoid (MMP) is an autoimmune blistering disease frequently associated with scarring of involved clinical sites. At present, therapeutic intervention in the form of immunomodulating or immunosuppressive agents is often reserved until the onset of significant inflammation and/or early cicatrization. We have therefore studied the clinical and immunopathological findings in 67 patients with MMP in order to try to establish a reliable prognostic indicator by which patients at high risk may be identified early in the disease. Inclusion criteria were a predominantly mucosal disease and the detection of IgG and/or C3 anti-basement membrane zone (BMZ) immunoreactants using immunofluorescence techniques. Patients were allocated to three disease subgroups on the basis of the modality and duration of therapeutic intervention required to achieve effective control of disease. In addition, at presentation and at each follow-up visit, a clinical score for severity of involved clinical sites was awarded and serum collected for indirect immunofluorescence (IIF). A dual circulating anti-basement membrane zone (anti-BMZ) antibody response with IgG and IgA was significantly associated with a more severe and persistent disease profile (P < 0.001). The odds ratios for requiring systemic therapy were: 11.6 among patients in whom there was a clinical score > or = 5 compared with a score < 5, and 31.3 and 66.9 among patients with IgG alone and both IgG and IgA, respectively, compared with negative IIF. The findings suggest that an assessment based upon a combination of site severity score and the presence of circulating IgG and IgA by IIF using 1 mol/L salt-split human skin substrate may be considered a useful prognostic indicator.

Adult↗
PubMed1996

Phenytoin-induced toxic epidermal necrolysis: a case report.

We present a case of phenytoin-induced toxic epidermal necrolysis resulting in 60-70% skin involvement. Systemic corticosteroids and prophylactic antibiotics used initially were discontinued, and subsequent management concentrated on intensive supportive treatment. The patient survived, but is left with disabling ocular complications.

Adult↗
PubMed1994

Mucosal-associated lymphoid tissue lymphoma of the conjunctiva.

The recognition of mucosal-associated lymphoid tissue as a distinct entity has lead to the separate classification of tumors arising in this tissue, ie, the mucosal-associated lymphoid tissue lymphoma. Five patients with mucosal-associated lymphoid tissue lymphoma of the conjunctiva are described herein; four of the five patients had bilateral tumors. Laboratory analysis was done using microscopy, immunophenotyping, gene rearrangement analysis using both Southern blot and polymerase chain reaction techniques, and oncogene (bcl-1, bcl-2, and c-myc) rearrangement studies. Typical mucosal-associated lymphoid tissue lymphoma features were seen in all patients; three of four patients who underwent testing with immunphenotyping had light-chain restriction, four of five patients had a clone detected using Southern blot analysis, and all five patients showed clones on polymerase chain reaction analysis. No patient demonstrated oncogene rearrangement. In all patients, complete physical examinations and laboratory tests did not detect any evidence of systemic spread. After treatment, no evidence of local recurrence or dissemination was found during follow-up ranging from 2 to 3 years.

Adult↗
PubMed1992

Tuberculous keratoconjunctivitis.

A 15-year-old West Indian boy had a left keratoconjunctivitis (KC) initially thought to be allergic in origin. He then developed a facial vesicular skin rash and a diagnosis of herpes simplex was suspected. Viral cultures were negative and there was a poor response to topical antiviral treatment. The KC progressed and became bilateral causing considerable reduction in the visual acuities. He complained of general fatigue and was pyrexial with generalised non-tender lymphadenopathy. There was a shadow in the upper lobe of the right lung. The bronchus was semioccluded by a non-caseating granuloma but no acid fast bacilli were found in the sputum or bronchial washings. In the presence of a strongly positive Heaf test, anti-tuberculous treatment was instituted which led to rapid resolution of all the systemic and ocular signs.

Adolescent↗
PubMed1992

One year experience in the treatment of familial hypercholesterolaemia with simvastatin.

Patients with heterozygous familial hypercholesterolaemia (FH) have a substantially increased risk of atherosclerosis due to very high plasma levels of cholesterol. Recent evidence has shown that coronary heart disease in these patients may regress with lipid-lowering therapy. In this study the efficacy and safety of simvastatin, an inhibitor of the enzyme 3-hydroxy-3-methylglutaryl coenzyme A, was investigated in 30 patients with FH over a period of one year. Substantial reductions in the plasma concentrations of total cholesterol (-28%), low-density lipoprotein (LDL) cholesterol (-32%), intermediate-density lipoprotein (IDL) cholesterol and apolipoprotein (apo) B (-33%) were achieved with 20 mg/day of simvastatin; there were no significant changes in triglycerides high-density lipoprotein cholesterol or apo A. In contrast to previous studies, 40 mg/day of simvastatin did not result in a further statistically significant fall in LDL cholesterol, IDL cholesterol or apo B in the group as a whole. The drug was well tolerated and no adverse clinical or laboratory events were recorded. In particular, no ophthalmological, hepatic or renal disorders were observed and there were no sleep disturbances. We conclude that simvastatin is an efficacious and safe drug to treat patients with heterozygous FH and that rarely will the dose need to be increased above 20 mg/day.

Adult↗