Biomedical subjects

J I Harper

Publications and source records attributed to J I Harper.

At least 73 records · Page 4Linked to original sources

PubMed1994

Extensive naevus comedonicus in a child with Alagille syndrome.

Naevus comedonicus is a rare condition, thought to be a hamartoma in which cells of the pilosebaceous unit fail to develop appropriately. Although it is usually an isolated phenomenon, it has been associated with other defects, including those of the skeletal, ocular and central nervous system. A girl with this condition is described who also had Alagille syndrome (arteriohepatic dysplasia), a previously unreported association.

Adolescent↗

PubMed1994

Waxy keratoses of childhood.

Three cases of waxy keratoses of childhood occurring in two families are described. The disorder seen in these three cases appears to be clinically and histopathologically distinct from previously described familial disorders of keratinization, which also feature multiple discrete papules.

Child↗

PubMed1994

Rapid diagnosis of cutaneous herpes simplex infections using specific monoclonal antibodies.

One hundred children with suspected herpes simplex virus (HSV) infection and 20 controls were studied to compare a rapid immunofluorescence (RIF) test for detection and typing of HSV from smears of lesions with standard viral culture. The RIF test was evaluated for ease of use and speed of diagnosis. RIF and/or culture were positive in 64% of patients. All infections diagnosed by RIF and culture were HSV type 1. In 92% of patients RIF and culture results were in concordance. In 57 cases, RIF and cultures were positive for HSV infection and in 35 cases RIF and cultures were negative for HSV infection. Three patients had inadequate samples for RIF and five children had positive RIF but were culture negative. All controls had negative results both by RIF test and culture. The RIF test demonstrated 100% sensitivity and 95% specificity. The RIF test was type specific, easy to perform and gave diagnosis of HSV infections within an hour of taking the clinical specimen. This study suggests the RIF test is as good, if not more sensitive, in the diagnosis of HSV infections as standard viral culture and has the advantage of speed of diagnosis.

Adolescent↗

PubMed1993

Chromosome 11q13 and atopy underlying atopic eczema.

Genetic linkage has been reported between atopic respiratory disease and chromosome site 11q13. We recruited 95 multiplex families through probands with active atopic eczema. Linkage analyses between atopy and markers on 11q13 excluded a major susceptibility locus for atopy in this region. Nor was there significant deviation from the expected proportions of alleles shared by affected sib-pairs. When we analysed families according to parental atopic phenotype, we observed a positive lod score (0.8) in 19 families with unaffected fathers, in contrast to markedly negative scores for other combinations of affected parental phenotype. The possibility of a maternal influence on the inheritance of atopy cannot, therefore, be excluded.

Adult↗

PubMed1993

Epidermolysis bullosa simplex with mottled pigmentation.

A family in which epidermolysis bullosa simplex and mottled pigmentation are inherited as an autosomal dominant disorder is described. Clinical features include: non-scarring blistering, mainly affecting the limbs, mottled pigmentation, predominantly affecting the trunk and neck, warty hyperkeratotic papules of the palms and soles, small red scaly plaques, and skin atrophy. Histology showed an atrophic epidermis, basal cell lysis and significant colloid body formation in an infant from the family.

Adult↗

PubMed1993

The quantification of free sphingosine in the stratum corneum of patients with hereditary ichthyosis.

Sphingosine is a long-chain base which provides the back-bone of all sphingolipid molecules. Free sphingosine is found in normal epidermis, especially in the stratum corneum. As a free molecule it may modify epidermal cell proliferation and differentiation through its inhibition of protein kinase C. Using a thin-layer chromatography technique we have demonstrated in vitro that the erythrodermic ichthyoses show significantly lower levels of stratum corneum sphingosine than the non-erythrodermic types. The exact in vivo significance of this finding is unclear, but free sphingosine may have an important role in determining the inflammatory component of the hereditary ichthyoses.

Adolescent↗

PubMed1993

Rothmund-Thomson syndrome and osteosarcoma.

A 10-year-old girl with Rothmund-Thomson syndrome developed a fibular osteosarcoma. Standard chemotherapy produced intolerable toxicity, necessitating a modification of therapy. Initial DNA repair studies on skin fibroblasts were abnormal, but repeat studies failed to reproduce the defects.

Bone Neoplasms↗

PubMed1993

Lichen planus pemphigoides in a child--immunopathological findings.

Lichen planus pemphigoides is a rare immuno-bullous disorder which usually affects adults. It is extremely uncommon in children. Previous cases have been described in a 10-year-old girl and in two 16-year-old adolescents. A case of lichen planus pemphigoides in an 11-year-old Afro-Caribbean boy is reported and the immunopathological findings are discussed.

Azathioprine↗

PubMed1993

Skin microflora of atopic eczema in first time hospital attenders.

The bacterial flora of the skin was assessed quantitatively in 50 children with eczema, aged 6 months to 14 years, referred to the hospital for the first time. Twenty nonatopic controls with an unrelated non-infective disorder were also studied. Cotton-tipped swabs and contact agar discs were taken from the worst affected area of eczema and from an uninvolved site in patients and from the forearm in controls. Swabs were also taken from the nose, axilla and groin in all children. Bacterial colonization of the skin was consistently more common and greater in amount from patients compared with controls. Staphylococcus aureus was the most common pathogen isolated from patients only; from the worst affected area of eczema in 74% of patients and from an uninvolved skin site in 30% of patients. Quantitative assessment showed that the density of colonization was proportional to the severity of eczema. The most common S. aureus phage group was group II accounting for 32% of strains. Resistance to penicillin was present in 88% of strains and to two or more antibiotics in 38% of strains. No relationship was noted between the pattern of resistance and phage group.

Adolescent↗

PubMed1993

Cystic fibrosis presenting as kwashiorkor with florid skin rash.

Two infants with a florid erythematous rash and generalised oedema, hypoalbuminaemia, and anaemia were found to have cystic fibrosis. This rare presentation is associated with false negative sweat tests, delays in diagnosis, and a considerable mortality. It is proposed that this presentation represents a manifestation of kwashiorkor secondary to malabsorption. The recognition that these infants have kwashiorkor provides some insight into the pathogenesis and management of their illness.

Cystic Fibrosis↗

PubMed1993

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.

We report a female infant born to a mother with incontinentia pigmenti (IP) and a father with haemophilia A, who manifests both disorders. Analysis of peripheral blood DNA from the infant, her mother, and two female relatives with IP showed a highly skewed pattern of X inactivation. Random patterns were observed in the infant's two sisters, who do not have IP and have normal carrier activity of factor VIII. Preferential inactivation of the X chromosome bearing the IP mutation, probably by negative selection, appears to have unmasked the factor VIII mutation on the infant's other X chromosome. This illustrates an unusual mechanism for the manifestation of an X linked disease in a heterozygous female.

Dosage Compensation, Genetic↗

PubMed1993

A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most cases with a defect in the ability to carry out excision repair of UV damage. Seven genetically distinct complementation groups (i.e., A-G) have been identified. A large proportion of patients with the unrelated disorder trichothiodystrophy (TTD), which is characterized by hair-shaft abnormalities, as well as by physical and mental retardation, are also deficient in excision repair of UV damage. In most of these cases the repair deficiency is in the same complementation group as is XP group D. We report here on cells from a patient, TTD1BR, in which the repair defect complements all known XP groups (including XP-D). Furthermore, microinjection of various cloned human repair genes fails to correct the repair defect in this cell strain. The defect in TTD1BR cells is therefore in a new gene involved in excision repair in human cells. The finding of a second DNA repair gene that is associated with the clinical features of TTD argues strongly for an involvement of repair proteins in hair-shaft development.

Adolescent↗

PubMed1992

Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.

Dyskeratosis congenita is an inherited disorder characterized by nail dystrophy, skin pigmentary changes, mucosal leukoplakia, pancytopenia and an increased incidence of malignancy. Because of a widely held view that the outcome of bone marrow transplantation in dyskeratosis congenita is poor, this treatment option is sometimes not considered when pancytopenia develops. We present a child currently doing well 3 years after bone marrow transplantation, and review the literature.

Bone Marrow Transplantation↗

PubMed1992

Bone changes and their significance in children with ichthyosis on long-term etretinate therapy.

Anxiety about the use of etretinate in children has been provoked by several reports describing skeletal abnormalities during long-term therapy. However, we have observed no evidence of skeletal toxicity in 42 children treated over an 11-year period. Radiological screening before and during treatment has failed to reveal abnormalities that would influence our decision to commence or to continue etretinate administration. We recommend that children who are to be treated with etretinate should have a baseline selective skeletal survey, with follow-up radiology restricted to those with pretreatment radiological abnormalities and those who develop musculo-skeletal symptoms. In addition we advise that dosage should not exceed 1 mg/kg/day. If these guidelines are followed, we believe that long-term therapy with etretinate can be given to children, with an acceptable margin of safety.

Administration, Oral↗

PubMed1992

Intraepidermal collagen type VII in dystrophic epidermolysis bullosa: report of five new cases.

The presence of intraepidermal collagen type VII has recently been used to define a subgroup of patients with mild dystrophic epidermolysis bullosa (DEB). This subgroup demonstrates virtual resolution of blistering during infancy despite often severe neonatal blistering. Using the antibody LH7.2, we have detected intraepidermal collagen type VII in five cases with DEB. These represent a much wider spectrum of clinical features and of intraepidermal and basement membrane zone (BMZ) staining patterns. Only one of our cases had features consistent with reported cases. Sequential skin biopsies from this case showed a marked change towards normal within 6 months of birth, paralleling the clinical improvement. The other four cases had sparse epidermal deposits of collagen type VII and included an affected foetus with autosomal recessive DEB. These findings suggest that the frequency of intraepidermal LH7.2 in DEB may be much higher than previously thought. The presence of abundant intraepidermal collagen type VII is of prognostic significance and can disappear over months. We recommend that biopsies of infants suspected of having EB are taken during the neonatal period.

Adolescent↗

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

Restrictive dermopathy: a disorder of fibroblasts.

Restrictive dermopathy is a rare, lethal genodermatosis, characterized by a thin, tightly adherent skin which causes a dysmorphic facies, arthrogryposis and respiratory insufficiency. The recorded cases to date show a remarkable phenotypic similarity. Thinning of the dermis and the arrangement of collagen in parallel bundles appear to be constant findings. We have found many dead and degenerating fibroblasts in the dermis on ultrastructural examination, and have demonstrated their poor growth in vitro. Studies of collagen from a skin sample showed a marked increase in mature cross-links, indicating a decrease in skin collagen turnover. These findings suggest a primary disorder of fibroblasts, and may explain the apparent arrest in growth and differentiation of the skin which appears to be important in the pathogenesis of this rare condition.

Bone and Bones↗

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↗