Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the
appendicular skeleton in a limited segmental fashion. It occasionally occurs on a …

Camurati–Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal
dominant sclerosing bone dysplasia. Mainly the skull and the diaphyses of the long tubular …

Until recently the most common autoinflammatory diseases (AIDs) associated with bone
disease in childhood included a few genetically complex (chronic non-bacterial …

A finding of high bone mineral density (BMD) from routine dual-energy X-ray absorptiometry
(DXA) screening is not uncommon. No consensus exists about the definition of high BMD …

Advances in genomic diagnostics hold promise for improved care of rare hematologic
diseases. Here, we describe a novel targeted therapeutic approach for Ghosal …

Background Homozygous or compound heterozygous pathogenic variants in the
thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal …

Background: Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder
characterized by refractory anemia and diaphyseal bone dysplasia. Case characteristics: A …

Background Bone tissue represents a large systemic compartment of the human body, with
an active metabolism, that controls mineral deposition and removal, and where several …

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition
characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We …

Objective This work aims to discuss the difficulties in diagnosing osteosclerotic changes in
skeletonized individuals and to raise awareness of osteosclerotic dysplasias as a group of …