Search PubMed⌕ Search

Biomedical subjects

C Moss

Publications and source records attributed to C Moss.

At least 73 records · Page 4Linked to original sources
PubMed1995

Human piebaldism: relationship between phenotype and site of kit gene mutation.

Human piebaldism is a rare autosomal dominant disorder characterized by congenital depigmented patches of skin and hair. Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. We report four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.

Adolescent↗
PubMed1995

Island flaps including the Bezier type in the treatment of malignant melanoma.

Despite the trend in current surgical practice in the treatment on melanoma to produce smaller excisional defects, any technique which can introduce a surgical closure that does not require split skin grafting must be of benefit. This paper introduces and illustrates a range of island flap techniques that employ no skin grafting for the treatment of malignant melanoma defects. The new cutaneous island flap described, termed the Bezier or the French Curve, employs a double V-Y appositional closure method, thus giving a more refined reconstructive result that fits into the line of the body curves aesthetically. The design of the Bezier flap is almost identical in size and shape to the excisional defect, with a facial or muscular base for vascular support. Appropriate guidelines that determine the design and application of this island flap technique are listed. They are illustrated both diagrammatically and clinically. Other flaps illustrated include fasciocutaneous island flaps and myocutaneous island flaps that use a single V-Y flap appositional closure technique. All these flaps were designed with special reference to the dermatomes, which act as an aid memoire upon which the flaps are marked.

Adolescent↗
PubMed1995

Aplasia cutis congenita with chromosome 12q abnormality.

A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have been located in a different area of 12q, but this case may indicate other candidate areas to explore. Karyotyping should be undertaken in all babies with aplasia cutis.

Chromosome Aberrations↗
PubMed1995

Urticaria pigmentosa and acute lymphoblastic leukaemia.

Childhood urticaria pigmentosa is generally considered to have a good prognosis with the majority of cases undergoing spontaneous resolution. However, there have been a number of reports of haematological malignancies occurring in association with urticaria pigmentosa. We describe a child with extensive urticaria pigmentosa and a congenital cardiac anomaly who developed acute lymphoblastic leukaemia and suggest a possible common aetiology.

Heart Ventricles↗
PubMed1994

What is segmental neurofibromatosis?

Two unrelated children with von Recklinghausen's neurofibromatosis (NF1) had mothers with cutaneous NF1 lesions in a limited distribution. The cutaneous pattern in the mother of case 1 was clearly segmental, and probably represents mosaicism for the NF1 mutation which was passed on to the child. In the second case the distribution in the mother was less obviously segmental, but may still represent mosaicism. It is more difficult to diagnose mosaicism for NF1 in individuals with no affected offspring, or with more limited cutaneous manifestations. The difficulties in defining segmental NF and assigning a genetic risk are discussed.

Child↗
PubMed1994

The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

The cardio-facio-cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the presence of hyperkeratotic skin lesions, abnormal hair, and a lack of familial cases. We describe a family who clearly satisfy the criteria for the CFC syndrome, and show other features which have been reported in the Noonan syndrome but not in the CFC syndrome, namely a haemorrhagic diathesis and ocular abnormalities. This supports the concept that the CFC syndrome is a manifestation of the Noonan syndrome.

Adolescent↗
PubMed1994

Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia.

A healthy 14-month-old boy had multiple, circular, scar-like depressions on both temples, which had been present since birth. Delivery had been normal, and had not required the use of forceps or other instruments. His mother and one sister had similar, but less obvious, lesions on the temples. The three affected family members had similar facial features, with laterally deficient eyebrows, and a prominent upper lip with down-turned mouth. Additional features in the baby were sparse lower eyelashes, medial epicanthal folds, and skin dimpling on one side of the chin. Focal facial dermal dysplasia (FFDD) denotes a condition in which there are bitemporal, round, scar-like lesions. It is inherited as an autosomal dominant trait with variable penetrance and expressivity, and there are no associated features. Setleis' syndrome is recessively inherited, and is characterized by similar bitemporal defects associated with other dysmorphic features, including deficient eyelashes and a prominent upper lip. This report of dominantly inherited bitemporal dermal defects with characteristic facies supports the idea that FFDD and Setleis' syndrome are a single disorder.

Adult↗
PubMed1994

Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family.

An intragenic elastin Hinf I polymorphism has been used to study the inheritance of elastin alleles in a family considered to show recessive inheritance of pseudoxanthoma elasticum (PXE). The marker has proved informative, excluding the elastin gene as a cause of PXE in this family. In addition, whole genomic human elastin clones were used in Southern analysis to screen the family for gross elastin gene rearrangements, but none were detected.

Adolescent↗
PubMed1993

Congenital livedo reticularis and recurrent stroke-like episodes.

Three children with pronounced livedo reticularis present since birth (cutis marmorata-telangiectasia congenita) have been followed to the ages of eight, 17 and 21 years. During childhood they developed frequent recurrent transient stroke-like hemipareses, affecting either side of the body, associated with ipsilateral pain, headache, visual symptoms, dysphasia, fits and confusion. Intellectual failure and, in one, progressive spasticity have followed. Attacks were more frequent in winter. Other problems have included abnormal peripheral vascular responses to temperature change, gastro-intestinal bleeding, glaucoma, local tissue hypertrophy and, in the two older patients, renal involvement with hypertension. Their condition represents a form of congenital vasculopathy. Anticonvulsants, anti-migraine agents, anti-platelet drugs and flunarizine have been ineffective. Nifedipine prevented further attacks in one patient and reduced attacks in another, but has not helped the third child. Adequate clothing and warmth may also be important.

Adult↗
PubMed1993

Epidermal mosaicism and Blaschko's lines.

To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocytes; furthermore, the abnormal cell line was confirmed to the hypopigmented epidermis and the normal epidermis contained only normal cells. Negative findings in the other two patients might be because of mosaicism which was undetected either because it was submicroscopic or because it was present in melanocytes, which have not yet been studied. These preliminary results support the ideas that (1) Blaschko's lines represent single clones of epidermal cells; (2) in patients with HI and severe neurological involvement mosaicism, if detectable, is best shown in keratinocytes; and (3) the cytogenetic defect in epidermal cells may be directly responsible for the failure of pigmentation in HI.

Adolescent↗
PubMed1991

Dermatology and the human gene map.

Chromosomal localization has been established for many genetic traits. Gene mapping may lead to the identification of disease genes, an understanding of pathogenesis, and the development of rational therapy, as well as facilitating antenatal diagnosis and genetic counselling. 'The new genetics' is therefore of great interest to the clinician. Unfortunately the complex technology and unfamiliar vocabulary of molecular biology often deter non-specialists from keeping abreast of these developments. This account explains the principles of gene mapping, discusses its relevance to dermatologists, and lists the established loci of dermatologically important genes.

Chromosome Aberrations↗
PubMed1990

Accessible conformations of melanin-concentrating hormone: a molecular dynamics approach.

Molecular dynamics simulations have been used to search for the accessible conformations of the melanin-concentrating hormone (MCH). The studies have been performed on native MCH and two of its peptide fragments, a cyclic MCH(5-14) fragment and a linear MCH(5-14) fragment. An analysis of the molecular dynamics trajectories of the three peptides indicates that two regions of the peptide have characteristic conformational properties that may be important for the biological activity. One is a region around Gly8, which is conformationally mobile, and the other is around Pro13, which shows unusual rigidity. The molecular dynamics simulation results are discussed in terms of backbone structural features like beta turns, side-chain interactions, and orientations of the disulfide bridge. The results of this analysis are used to suggest new analogues that will modify the conformational features of the peptide and further define the conformational requirements for activity. Finally, the results are related to nmr studies of the peptide and reveal agreements between the experimental nuclear Overhauser effect constraints and some of the accessible conformations obtained from the simulation.

Amino Acid Sequence↗
PubMed1990

Rothmund-Thomson syndrome: a report of two patients and a review of the literature.

Two siblings with poikiloderma, short stature and other abnormalities are described. They were originally reported as having Morquio syndrome; subsequently, mucopolysaccharidosis was excluded biochemically and they were classified as 'a newly recognized syndrome of connective tissue dysplasia'. It is now clear that their disorder is the Rothmund-Thomson syndrome (RTS).

Adult↗