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Biomedical subjects

E A Bingham

Publications and source records attributed to E A Bingham.

At least 19 recordsLinked to original sources
PubMed2006

Mutation analysis in Irish families with glomuvenous malformations.

BACKGROUND: Glomuvenous malformations (GVMs) are rare bluish lesions that can affect the skin and mucosal surfaces. They represent defects in vasculogenesis. Lesions can occur sporadically or in an autosomal dominant mode of inheritance. Recent studies have shown that mutations in the glomulin gene (GLMN) on chromosome 1p21-22 are responsible for familial GVMs. OBJECTIVES: To search for mutations in GLMN in Irish families with GVMs. METHODS: We identified four Irish families with GVMs and confirmed linkage to chromosome 1p21-22 in these cases. We sequenced the glomulin gene in all affected and unaffected members of the families. Results Linkage analysis showed that affected individuals from the families shared a common haplotype. Mutation analysis revealed a delAAGAA mutation in exon 3 of the glomulin gene in all four families with GVMs. CONCLUSIONS: We confirm that mutations in the glomulin gene are responsible for GVMs and suggest a founder Irish mutation in the glomulin gene in four Irish families.

Adaptor Proteins, Signal Transducing↗
PubMed1999

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.

Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. Previously, we have shown that this disease can be caused by mutations in type I keratin K16 and one mutation has been reported in its type II keratin expression partner, K6a. Mutation analysis for K6a has been hampered by the presence of multiple copies of the K6 gene in the human genome, of which some are expressed and others are pseudogenes. Here, we describe a mutation detection strategy where the entire KRT6A gene, approximately 7 kb, is specifically amplified by long-range PCR. Using this technique, we have detected two novel mutations in the 1A domain of the K6a polypeptide, N171K and F174S. Mutations were confirmed in the affected individuals and were excluded from 50 unaffected unrelated individuals by restriction enzyme analysis of KRT6A PCR products. Additionally, mutation N171K was confirmed by RT-PCR in mRNA derived from lesional palmoplantar epidermis of an affected individual, confirming the specificity of the genomic PCR for the functional K6a gene. This, together with a similar strategy which we have developed for the K16 gene, provide a robust system for mutation detection and prenatal diagnosis for patients with PC-1.

Amino Acid Substitution↗
PubMed1998

Evidence for a second genetic locus in Carney complex.

Carney complex (MIM no. 160980) is an autosomal dominant condition of lentiginosis, cutaneous and cardiac myxomas and multiple endocrine neoplasia. A locus for Carney complex has recently been mapped to chromosome 2p16. We have studied two Northern Irish families with this disorder. Linkage analysis was performed on the families using five highly informative dinucleotide repeat markers covering this area. Negative logarithm of the odds scores were obtained for all markers at all recombination fractions. We conclude that Carney complex is genetically as well as clinically heterogeneous.

Breast Neoplasms↗
PubMed1998

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.

Congenital atrichia is a rare, recessively inherited form of hair loss affecting both males and females and is characterized by a complete absence of hair follicles. Recently, a mutation in the human hairless gene was implicated in the pathogenesis of congenital atrichia. The human hairless gene encodes a putative single zinc-finger transcription-factor protein with restricted expression in brain and skin, which is believed to regulate catagen remodeling in the hair cycle. In this study, we report the identification of a missense mutation in the zinc-finger domain of the hairless gene in a large inbred family of Irish Travellers with congenital atrichia. The mutated arginine residue is conserved among human, mouse, and rat, suggesting that it is of significant importance to the function of the zinc-finger domain.

Alopecia↗
PubMed1997

Microscopic polyangiitis. Delineation of a cutaneous-limited variant associated with antimyeloperoxidase autoantibody.

BACKGROUND: Microscopic polyangiitis is a systemic small vessel vasculitis, which, although primarily associated with necrotizing and crescentic glomerulonephritis and pulmonary capillaritis, often has cutaneous and musculoskeletal features. Microscopic polyangiitis is strongly associated with antineutrophil cytoplasmic autoantibodies, most often demonstrating a perinuclear immunostaining pattern. This pattern usually demonstrates specificity for antimyeloperoxidase autoantibodies. We report a case of microscopic polyangiitis, which, even after several years, has remained predominantly cutaneous. OBSERVATIONS: We describe a patient with a 22-year history of cutaneous purpuric vasculitis. The lesions occur in crops at 4- to 6-week intervals and are associated with constitutional upset and elevated serologic inflammatory indexes. The antimyeloperoxidase titers closely correlate with disease activity in this patient. After close, long-term review and extensive investigations, no evidence of necrotizing and crescentic glomerulonephritis, pulmonary capillaritis, or other deep-organ involvement has been detected. CONCLUSIONS: To our knowledge, this is the first report of a long-term evaluation of predominantly cutaneous microscopic polyangiitis and demonstrates that serologically characteristic microscopic polyangiitis may remain limited without subsequent progression to characteristic systemic involvement. This observation contributes to the understanding and characterization of the clinicopathologic spectrum of microscopic polyangiitis.

Adult↗
PubMed1997

Carney complex: report of a kindred with predominantly cutaneous manifestations.

We report a four-generation kindred with the complex of myxomas, spotty pigmentation and endocrine overactivity. This kindred demonstrates a relatively limited phenotypic expression with predominance of cutaneous features. Male-to-male transmission confirms the autosomal dominant nature of the condition. We propose that pilonidal sinus may be an associated manifestation in this kindred.

Adult↗
PubMed1996

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.

Acromegaly↗
PubMed1994

The U.K. Working Party's Diagnostic Criteria for Atopic Dermatitis. I. Derivation of a minimum set of discriminators for atopic dermatitis.

A working party of 13 dermatologists, two family practitioners and a paediatrician was assembled, with the aim of developing a minimum list of reliable discriminators for atopic dermatitis. Each physician was asked to select 10 consecutive new cases of unequivocal mild to moderate atopic dermatitis and 10 controls with other inflammatory dermatoses. Each subject was examined by two independent observers, who were blind to the clinical diagnosis and study aim, with regard to 31 clinically useful diagnostic features for atopic dermatitis. Two hundred and twenty-four patients were studied (120 cases and 102 controls). Using the key physician's clinical diagnosis as a gold standard, the sensitivity and specificity of each of the 31 diagnostic criteria were tested. Using multiple logistic regression techniques, a minimum set of diagnostic criteria for atopic dermatitis was derived. These were: history of flexural involvement, history of a dry skin, onset under the age of 2, personal history of asthma, history of a pruritic skin condition, and visible flexural dermatitis. Adjustment for age, sex, region, social class and ethnic group did not alter the choice of final criteria. The discriminatory value of these criteria was also satisfactory when tested against a further sample of 150 patients drawn from the community, who did not have skin disease.

Adolescent↗
PubMed1994

An audit of dermatology in a paediatric accident and emergency department.

Two studies were undertaken of patients with dermatological disorders who attended the Accident and Emergency (A&E) Department of the Royal Belfast Hospital for Sick Children during 1990-1991. The aims were to review diagnostic accuracy and assess the benefits of an open-access consultant dermatology clinic. A retrospective survey of 14,340 new attendances at the A&E department over a 7-month period found that 540 of these (4%) had a primary dermatological disorder. In 26% no diagnosis had been made although only 10% were referred for a specialist opinion. A 2-month prospective study of patients who attended the department and were referred to a consultant dermatology open-access clinic revealed overall diagnostic accuracy of 66% (+/- 2 SEM). Individual rates of diagnostic concordance between junior doctor and consultant were 59% for skin infections and 77% for papulosquamous disorders. The open-access clinic allowed prompt referral for correct diagnosis and initiation of appropriate management.

Adolescent↗
PubMed1993

Anogenital warts in children.

Fourteen children presenting with anogenital (AG) warts and their close family members were studied; 28.6 and 8.3% of presenting children and other child household members, respectively, had non-genital cutaneous warts; 42.8% of children with AG warts had one or more adult household member with common hand warts. Fifty per cent of all mothers had subclinical cervical papilloma virus (PV) infection; only one male adult had subclinical PV infection of the penis without concurrent AG warts. Of the children with AG warts 42.8% had one or more adult household member with AG warts. Human papilloma virus (HPV) deoxyribonucleic acid (DNA), type 6/11 most frequently, was detected in 38.5% AG wart biopsies from children, and 67% AG wart biopsies from adults. HPV 31/33/35 was detected in 28.5% of cervical preneoplasias and type 6/11 in the one case of subclinical PV infection of the penile shaft. Detection of HPV types 6/11, 16/18, or 31/33/35 in AG warts in children was significantly associated with vertical (from an HPV-infected maternal birth canal during vaginal delivery) or sexual transmission of these warts (Fisher exact probability P = 0.031).

Anus Diseases↗
PubMed1992

Epidermolysis bullosa in Northern Ireland.

Cases of epidermolysis bullosa (EB) diagnosed in Northern Ireland during a 23-year period (1962-84) were identified from dermatology clinic files, paediatric hospital notes and cases known by general practitioners. A total of 48 confirmed new cases of EB were diagnosed during the screening period. This involved 31 families, with identification of 36 further cases. The distribution of incident EB subtypes was: simplex 31 (65%), junctional 1 (2%), dystrophic 12 (25%) and acquisita 4 (8%). The incidence rate of new cases of EB diagnosed per year is 1.4/million and prevalence of all forms estimated at 32/million. The prevalence of simplex, junctional and dystrophic forms is 28, 0.7 and 3/million, respectively.

Epidermolysis Bullosa↗
PubMed1992

Multiple lentigines, myxoid tumours and endocrine overactivity; four cases of Carney's complex.

Four patients with Carney's complex, one sporadic and three familial, are described. The sporadic case was a young male with centrofacial lentigines, who developed cyclical Cushing's syndrome secondary to bilateral pigmented nodular adrenocortical disease, two separate left atrial myxomas, and buccal mucosal myxomas. The three familial cases, who all had varying degrees of centrofacial/mucosal lentigines and cutaneous myxoid tumours, were a woman with myxoid mammary fibroadenomatosis and a left atrial myxoma, her daughter who developed a prolactin-secreting pituitary adenoma, and her son who had bilateral large-cell calcified Sertoli cell testicular tumours, and an axillary psammomatous melanotic schwannoma.

Adenoma↗