Specific germline activating point mutations in the gene encoding the tyrosine kinase receptor FGFR3 (fibroblast growth factor receptor 3) result in autosomal dominant human skeletal dysplasias. The identification in multiple myeloma and in two epithelial cancers-bladder and cervical carcinomas-of somatic FGFR3 mutations identical to the germinal activating mutations found in skeletal dysplasia...

AIM To identify clinical features which predict those most at risk of co-morbidities within an obesity clinic. METHODS Children attending an obesity clinic had fasting glucose, insulin, and lipids measured prior to a standard oral glucose tolerance test (OGTT). History and examination established birth weight, family history of type 2 diabetes/obesity, pubertal status, and presence of acantho...

Confluent and reticulated papillomatosis (CRP) is a rare dermatosis of unknown origin characterized by hyperpigmented, confluent papules (1). CRP was first described in 1927 by Gougerot and Carteaud as " pap-illomatose pigmentée innominée " (2). It has been described as a relatively rare dermatosis manifesting as persistent papules that are confluent in the center and reticulated at the periphe...

Acanthosis nigricans (AN) is a hyperpigmented keratotic skin lesion known to be associated with malignant disease and endocrinopathy. We report a very rare case of generalized AN with Sjögren's syndrome- and systemic lupus erythematosus-like features but without type B insulin resistance. Neither internal malignancy nor other endocrinological disorders, including glucose intolerance, were detec...

Sir, Paraneoplastic syndromes are defined as nonmetastatic systemic effects that accompany malignant disease. These syndromes may occur in up to 10-15% of malignancies. A few paraneoplastic syndromes have been reported in metastatic transitional cell carcinoma including hypercalcemia, thrombocytosis, eosinophilia, nephrotic syndrome, acanthosis nigricans, dermatomyositis, polymyositis, and leuk...

We report a case of familial insulin resistance due to Type A insulin receptor disorder. The patient, a product of consanguineous marriage, was a 34-year-old man who had had diabetes mellitus since the age of 14 years. He was treated by insulin therapy but became blind due to diabetic retinopathy at the age of 25 years. He was 154 cm tall and weighed 41kg. He had hirsutism and acanthosis nigric...

OBJECTIVE Lipodystrophies are categorized by the extent of fat loss (generalized vs. partial) and by inheritance (congenital vs. acquired). We examined whether a group of patients with partial lipodystrophy of the limbs (PLL), type 2 diabetes mellitus (T2DM), and an absence of a family history of lipodystrophy constitute a new clinical subtype. RESEARCH DESIGN AND METHODS Ten women with T2DM ...