PubMed Health⌕ Search

Biomedical subjects

F M Pope

Publications and source records attributed to F M Pope.

157 records · Page 9Linked to original sources
PubMed1975

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen.

Amino Acid Sequence↗
PubMed1975

Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum.

Re-examination of published data from affected families with pseudoxanthoma elasticum (PXE) described in the literature between 1896 and 1968 supported the concept of clinical and genetic heterogeneity. There was clinical evidence for two autosomal dominant and one recessive type, although only a single patient with recessive type II was described. Examination of the individual pedigrees supported both autosomal dominant and recessive patterns of inheritance. The pooled genetic data were less helpful because they were so highly selected. (They had been reported in the literature.) Even so the dominant type II data fitted the hypothesis, whilst the type I and recessive groups were near the expected values. The clinical properties of the groups corresponded closely to the recent British (Pope, 1973) survey. In general, the dominant type I group showed classical cutaneous changes, vascular complications were common and the chief ophthalmic complication was a severe choroidoretinitis. The dominant type II group, in contrast, has an atypical macular rash, or sometimes no rash at all, no vascular complications and very mild retinal changes. Choroidoretinitis was rare and peau d'orange patterns and prominent choroidal vessels common. The recessive group was of intermediate severity.

Adolescent↗
PubMed1975

Cutaneous extensibility in pseudo-xanthoma elasticum.

In vivo skin elasticity was measured on unaffected forearm skin of twenty-five patients with pseudo-xanthoma elasticum and compared with age and sex-matched controls. The elastic modulus was raised in the recessive type I group and reduced in the dominant types I and II groups. No significant difference in skin thickness was found.

Adult↗