Genetic and inherited disorders have accompanied humanity since its earliest existence. Many prehistoric and historic sites have revealed archeological remains with pathologies suggestive of inherited disorders. Paleopathology studies the identification of pathological conditions in ancient skeletal remains from many world sites revealed the presence of various hereditary or congenital conditio...

Elastic tissue disorders include a heterogeneous group of diseases characterized by a reduction of elastic fibers in the dermis. These rare conditions occasionally have overlapping clinical and histological findings that make diagnosis a challenge for dermatologists and dermatopathologists. We report a case of one of these entities, papular elastorrhexis, and discuss the clinical and histologic...

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...

We report a case of a 33-year old female with an unusual presentation of high-grade osteosarcoma superimposed on osteopathia striata. Few cases of malignancy arising in sclerosing bone dysplasia have been reported in literature. Of the few reported ones, osteosarcoma was associated with melorheostosis in two cases, with osteopoikilosis in the one case, and with combined melorheostosis and osteo...

1 Proteostasis Jeffery W. Kelly, MD Departments of Chemistry and Molecular and Experimental Medicine, and The Skaggs Institute of Chemical Biology, The Scripps Research Institute, La Jolla, CA The chemical information within the polypeptide chain, coand post-translational modifications of the amino acids comprising the protein, such as N-linked glycosylation, and the interactions of the polypep...