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Osteopetrosis, known also as Albers-Schonberg disease, is a genetic disorder causing a generalized sclerosis of the bones and the reduction of the marrow. The diagnosis is often secondary to pathologic processes and its usually observed through specific X-ray researches. The principal cause of osteopetrosis is to attribute to a deficit of bone resorption and remodelling. Osteomyelitis is a complication of osteopetrosis. The purpose of this article is based on several point: 1) to know the cause of osteopetrosis, then to classify and check it; 2) to present the case who did not respond to of a patient with osteopetrosis complicated by maxillary and phalanx osteomyelitis common therapies and give an accurate analysis.

Osteopetrosis is an extremely rare condition characterized by an increase in osseous cell density. It shows three different hereditary patterns. Diagnosis is made by means of a 3D CT and an accurate study of hepatic and renal functions, as well as audiometric and labyrinth examination. In the frequent case of serious osseous alterations of the facial profile, surgical treatment is essential in order to obtain the best aesthetic and functional results.

A case of mandibular osteomyelitis in a child affected by osteopetrosis is presented. Systemic antibiotic therapy was ineffective and surgery was required to obtain a partial control of infection.

-- A benign form of Albers Schonberg disease (osteopetrosis) is described. The clinical and pathogenetical aspects are discussed and the findings compared with the literature. The diagnosis was made on the basis of radiological findings and histological results of bone biopsy.

Five cases of marble bones in two families living near Brescia are presented. Case 1 (42-yr-old female) was a typical malignant form with deep and extensive eburnation, many pathological fractures, concomitant osteitis and the formation of many fistulae, massive spleen enlargement and infarct, and marked anaemia with clear signs of extra-medullary haemopoiesis. The patient died 5 yr after her first admission. Two of her brothers had had an identical, fatal form. Case 4 (28-yr-old male) was much the same: virtually general osteosclerosis despite the difference in age, marked spleen enlargement, a history of fractures, serious anaemia and extramedullary haemopoiesis. Benign pictures were seen in cases 2 and 3 (73- and 68-yr-old females). In case 5 (25-yr-old male), typical bone condensation was the only significant pathological sign. It is suggested that this, too, may be seen as a "benign" form.

An account is given of recent clinical and radiological findings with respect to Albers-Schönberg disease. Reference is made to its hereditary transmission modality and clinical picture (skeletal lesions and haematological distress), and to its radiological aspects. Suggestions are made with respect to the aetiopathogenesis of disease. Stress is laid on the as yet undefined mechanism of "genotypical condensing dysplasia". The relation between osteopetrosis and thyrocalcitonin is discussed, though no definite conclusions could be drawn from the hormone levels determined in a personal series.

Two non familial cases of the juvenile lethal form of osteopetrosis and one case of the mild adult type are reported. In one case at risk of lethal osteopetrosis an early prenatal diagnosis was attempted, after informing the parents about the extreme difficulty to obtain conclusive results by such investigation. Although several ultrasonographic and one radiological examinations showed an apparently normal foetus, the newborn was affected by the lethal form of osteopetrosis.

A malignant paediatric variety and an adult variety of Albers-Schönberg disease are normally distinguished. On the basis of recent findings and personal observation it would appear advisable to accept two different courses of Albers-Schönberg disease in adults: one resembling the malignant infant form and the other with slow, practically asymptomatic (apart, obviously, from the skeletal lesions) course allowing for prolonged survival. This classification is of considerable practical importance for prognosis and therapeutic purposes. Other hereditary-familial and constitutional condensing osteopathy pictures exist that present radiological stigmata similar to those seen in Albers-Schönberg disease. The interest of the relations between A-S disease and certain of these condensing osteopathic conditions is obvious.