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Biomedical subjects

M Blaszczyk

Publications and source records attributed to M Blaszczyk.

At least 109 records · Page 6Linked to original sources
PubMedDate not supplied

Scleroderma-like indurations involving fascias: an abortive form of congenital fascial dystrophy (Stiff skin syndrome).

Four patients are described with stone-hard indurations of the skin and subcutaneous tissue, predominantly on the buttocks and thighs, in the areas of the thickest fascia lata and glutealis. All cases were sporadic, started in early infancy, were only slightly or not progressive, and showed no visceral involvement or immunologic abnormalities. In all, the hallmark of the disease was strikingly enlarged fascia. In one patient, typical features developed progressively for 9 years, and in two patients the changes remained abortive, limited to some areas, and not symmetrical. The fourth patient showed some similarity to profound morphea with no cutaneous involvement. Recognition of atypical or abortive cases of congenital fascial dystrophy, which is probably a variant of heterogeneous stiff skin syndrome involving exclusively fascia, is of practical importance, since no therapy is required. However, intensive rehabilitation should start in early infancy and continue throughout life. The genetic defect of molecular organization of collagen in the fascia results in formation of giant amianthoid-like collagen fibrils.

Adult↗
PubMedDate not supplied

Scleromyxedema is a scleroderma-like disorder and not a coexistance of scleroderma with papular mucinosis.

We present four cases of scleromyxedema with scleroderma-like cutaneous changes mimicking systemic sclerosis and stress the importance of their differentiation from true scleroderma. Scleromyxedema should be recognized as an entity since it differs from scleroderma in the pathogenesis, histopathology of cutaneous lesions, type of visceral involvement (if present), frequent association with paraproteinemia, the course and prognosis.

Adult↗
PubMedDate not supplied

Acrogeria of the Gottron type in a mother and son.

We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular Ehlers-Danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type III, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.

Abnormalities, Multiple↗