Pycnodysostosis is an uncommon autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle, and acroosteolysis of the distal phalanges. This case report showed a 25-year-old female with features pat...

Osteopetrosis is one cause of osteosclerosis and may result in such serious oral complications as osteomyelitis and exposed necrotic bone. Dentists should be aware of patients with the disease because of its effect on osteoclast function, which results in impaired wound healing. The purpose of this paper is to review the causes, pathogenesis and differential diagnosis of osteopetrosis and to pr...

Osteopetrosis, or Albers-Schönberg disease, is a rare hereditary disease characterized by osteoclast dysfunction and consequent diminished bone resorption and disturbed bone building and remodeling, resulting in abnormally dense and brittle bones. Bone marrow failure, pathologic fractures, and neurologic deficits are common. Osteopetrosis is diagnosed on radiographs. Patients have generalized o...

Pycnodysostosis is a rare systemic bone disease whose cardinal features are generalized osteosclerosis and dwarfism. Characteristic skeletal defomities ensue, such as failure of closure of cranial sutures, obliquity of the mandibular angle, and defects of the terminal phalanges. This disease is suspected to be congenital heredity. In this report, a case of pycnodysostosis of a 20-year-old man w...

Periosteal osteoid osteoma is extremely rare. The diagnosis is not always clear. We report a case of periosteal osteoid osteoma arising from the posterior surface of the right distal femur in a 21-year-old woman. After careful evaluation and excisional biopsy, histological examination confirmed the diagnosis of osteoid osteoma, showing the nidus, surrounding osteosclerosis, and catarrhal synovi...

A 59 year old man with longstanding myelofibrosis and previous splenectomy was incidently found to have a large lytic lesion in his left femur which required operative fixation. He had undergone right upper lobectomy for squamous carcinoma of the bronchus five years earlier. Histological analysis of bone reamings showed no evidence of metastatic carcinoma. Osteosclerosis is frequently noted in ...

A 39-year old man had periodic paralysis due to hypokalaemia. Investigations led to the diagnosis of distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO). Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-i...