Biomedical subjects

S B Stutz

Publications and source records attributed to S B Stutz.

3 recordsLinked to original sources

PubMed1985

[Clinical aspects and genetics of pseudoxanthoma elasticum].

Eighteen cases of Pseudoxantoma elasticum (PXE) were analysed using clinical and genetic criteria. We observed great intra- and interfamiliar variations in the manifestations of the disease as well as mono-, bi- and trisymptomatic cases (skin + eyes + vessels). We lack reliable indications for the existence of more than one recessive type of PXE and hence for heterogeneity. In family 9, PXE was inherited in an autosomal-dominant mode, and the discrete symptoms were restricted to the skin.

Aged↗

PubMed1985

[Light and electron microscopy of pseudoxanthoma elasticum].

Five patients with recessive pseudoxanthoma elasticum (PXE-R) and four with dominant transmission of the disease (PXE-D) belonging to the same family were studied by light and electron microscopy. In PXE-R, calcification in the elastic fibres causes their enlargement, excavation and fragmentation. On the other hand, in PXE-D irregularly shaped and unevenly lined elastic strands may form an anastomotic wickerwork intimately intermingled with the collagenous texture. In other places, elastic bundles seem to be composed of very tiny elements. Both aspects represent a dysplasia of the elastic tissue. Independently of the mode of inheritance, a variable proportion of enlarged collagen fibrils exhibit a "flower-like" structure. Additionally, in PXE-D alone a peculiar aggregation of small and large collagen fibrils is observed. Granulofilamentous material mixed with tiny collagen fibrils is found in both groups of patients. On the basis of our observations, PXE-R and PXE-D may be identified by light and electron microscopy.

Collagen↗

PubMed1982

[Systemic cutis laxa-like pseudoxanthoma elasticum].

According to Pope the pseudoxanthoma elasticum (PXE) can be divided into four types using clinical genetical criteria. In contrast to the classical form the recessive type II is not only characterized by a wrinkeled appearance and laxity of the skin, furthermore there are no clinical symptoms indicating visceral disease. We report two patients with cutis laxa-like skin. In addition the patients suffered from pathological changes of the eye. In one of them an alteration of the peripher vascular system could be observed.

Adult↗