Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency.

Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently we found a marked reduction of fibronectin receptors in the skin and cultured fibroblasts of two patients with Ullrich's disease with collagen VI deficiency, and speculated that an abnormality of cell adhesion may be involved in the pathogenesis of the disease. In this study, we investigated the expression of proteoglycans and adhesion molecules in Ullrich's disease and other muscle diseases.

Hermansky-Pudlak syndrome with a novel mutation.

We report a case of Hermansky-Pudlak syndrome (HPS) with a novel mutation in the HPS1 gene. This case showed oculocutaneous albinism and lysosomal ceroid accumulation, however platelet dysfunction was not observed. Histopathological findings of the biopsied lung tissue were compatible with HPS.

Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency.

Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in skeletal muscle from two patients with Ullrich's disease. In this study, we investigated immunohistochemically the expression of extracellular matrix proteins and various proteins, which are markers for regenerating muscle fibers.

Capillary changes in skeletal muscle of patients with Ullrich's disease with collagen VI deficiency.

We examined the capillaries in muscle biopsy specimens from two patients with Ullrich's disease with collagen VI deficiency by light and electron microscopy. Collagen VI plays an important role in platelet aggregation for binding von Willebrand factor. Using immunohistochemistry, collagen VI was shown to be absent on capillaries from patients with Ullrich's disease, while von Willebrand factor, collagen IV, and vascular endothelial growth factor were normally expressed.

Skeletal muscle abnormalities in two patients with dystonia.

We report two patients with dystonia aged 53 and 27 years. One patient was diagnosed as a sporadic case of primary dystonia. The other patient was diagnosed as having secondary dystonia following head injury.

Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease.

Ullrich's disease is a congenital muscular dystrophy characterized clinically by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recent studies have demonstrated that collagen VI is deficient in the muscles of patients with Ullrich's disease, and some cases result from recessive mutations of the collagen VIalpha2 gene (COL6A2). Fibronectin is one of the main components of the extracellular matrix (ECM) and associates with a variety of other matrix molecules including collagen.

Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease.

By electron microscopy, we examined the skeletal muscle from two patients with Ullrich's disease. One patient had a deletion in the collagen VI alpha 2 gene. The muscle biopsy specimens showed no collagen VI immunoreaction, while the expression of collagen IV was increased.

Diagnosis of dystrophinopathy by skin biopsy.

We studied the expression of dystrophin in skin biopsy samples from 19 patients with neuromuscular diseases. Immunohistochemical procedures for dystrophin analyses were performed using monoclonal antibodies for three different domains. Arrector pili muscles, which are smooth muscles in the skin, expressed dystrophin in the patients with limb-girdle muscular dystrophy (5), facioscapulohumeral muscular dystrophy (1), and spinal muscular atrophy (3), and in normal controls (2).