Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica.

GORAB is a key regulator of Golgi vesicle transport and protein glycanation. Loss of GORAB function in gerodermia osteodysplastica (GO) causes shortening of glycosaminoglycan chains, leading to extracellular matrix disorganization that results in wrinkled skin, osteoporosis and elevated TGF-β signaling. In this study, we investigated the role of TGF-β-signaling, oxidative stress, and resulting cellular senescence in the osteoporosis phenotype of GO.

Erythrokeratodermia variabilis treated with isotretinoin. A clinical, histologic, and ultrastructural study.

A 30-year-old woman with erythrokeratodermia variabilis was treated with oral isotretinoin for four months. Clinical and light and electron microscopic observations were made before and after treatment. A characteristic electron microscopic feature was subnormal numbers of keratinosomes within the stratum granulosum of hyperkeratotic plaques.

Epidermodysplasia verruciformis in a setting of common variable immunodeficiency.

A 14-year-old native American female with common variable immunodeficiency was admitted for bone marrow transplantation. Preoperative evaluation showed a generalized lichenoid papular eruption present for several years. Light microscopy revealed expansion of the epidermis by atypical keratinocytes; electron microscopy showed intranuclear papillomavirus inclusions within the granular keratinocytes; DNA hybridization revealed a type 5-related human papilloma virus homology.

Melanoma masquerading as Spitz nevus following acute lymphoblastic leukemia.

A malignant melanoma originally diagnosed as a Spitz nevus led to the death of a 10-year-old boy. The melanoma developed four years after therapy was begun for acute lymphoblastic leukemia. Melanomas in children are rare.

Glycosaminoglycans of pleural mesothelioma: a possible biochemical variant containing chondroitin sulfate.

Glycosaminoglycans of a malignant pleural mesothelioma have been characterized histochemically and biochemically and compared with those of normal lung, pleural plaque, lung carcinoma, and other connective tissue neoplasms. Chondroitin sulfate constituted the major glycosaminoglycan (approximately 80% of total) present in the pleural mesothelioma while hyaluronic acid was present in only trace amounts (approximately 3% of total). In particular chondroitin 6-sulfate was the predominant isomer, constituting 80% of the total chondroitin sulfate.