MIXED SCLEROSING BONE DYSTROPHY Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Related posts: DEFINITIONS THYROID-HORMONE RECEPTOR BINDING TO THYROID HORMONE RESPONSE ELEMENTS DISEASE-SPECIFIC VARIATION RADIATION…
MELORHEOSTOSIS Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Melorheostosis, a sporadic, asymmetric hyperostosis that usually affects the long bones, can cause pain and intermittent swelling…
OSTEOPOIKILOSIS Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Osteopoikilosis (spotted bones) is a radiographic curiosity.5,6 If unrecognized, however, it may lead to investigation for metastatic…
ENDOSTEAL HYPEROSTOSIS Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Endosteal hyperostosis is inherited either as a clinically severe autosomal recessive disorder (sclerosteosis or van Buchem…
INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY SYNDROME) Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Infantile cortical hyperostosis is a self-limited, focal skeletal disorder in which exuberant periosteal…
PROGRESSIVE DIAPHYSEAL DYSPLASIA (CAMURATI-ENGELMANN DISEASE) Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Progressive diaphyseal dysplasia is a sclerosing bone disorder that is inherited in an…
PYCNODYSOSTOSIS Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Pycnodysostosis, an autosomal recessive disorder, perhaps affected the French impressionist painter Henri de Toulouse- Lautrec.2,6 Patients present…
OSTEOPETROSIS Part of “CHAPTER 66 – RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS“ Osteopetrosis (marble bone disease) is one of many disorders that cause high bone mass (Table 66-1).6 Two…
RARE DISORDERS OF SKELETAL FORMATION AND HOMEOSTASIS Michael P. Whyte Although they are individually rare, many unusual disorders of skeletal formation and homeostasis exist.1,2,3,4,5,6 and 7 Some entities are mere…
