1/4. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature shedding of teeth. Skeletal pains began just before puberty. Swelling and aching of most middle phalanges in the hands is an especially troublesome manifestation. The mother also had episodes of symptomatic hypercalcemia first documented in late childhood and subsequently during intercurrent illness and postpartum lactation. Radiographs show hyperostosis and/or osteosclerosis predominantly in the skull and appendicular skeleton. Long bones also are expanded considerably, especially the middle phalanges in the fingers. The mother's skeletal abnormalities are more severe. Biochemical parameters of bone turnover, including serum alkaline phosphatase (ALP) activity, are elevated substantially. In the proposita, dynamic histomorphometry of nondecalcified sections of iliac crest revealed rapid skeletal remodeling. In the mother, who had been treated with bisphosphonates, electron microscopy (EM) showed disorganized collagen bundles as well as necrotic and apoptotic bone cells but no osteocytic osteolysis. measles virus gene transcripts were not detected in peripheral blood monocytes. karyotyping was normal, 46,XX. Hyperphosphatasia with bone disease previously has been reported as either a sporadic or autosomal recessive condition. Expansile skeletal hyperphosphatasia (ESH) is probably inherited as an autosomal dominant trait with a high degree of penetrance.- - - - - - - - - - ranking = 1keywords = osteosclerosis, bone disease (Clic here for more details about this article) |
2/4. Eighth cranial nerve dysfunction in hyperostosis cranialis interna.hyperostosis cranialis interna is a recently described autosomal dominant bone disorder characterised by hyperostosis and osteosclerosis confined to the skull, especially the calvarium and the skull base. In the affected family members, we found variable simultaneous involvement of cranial nerves I, II, VII and VIII from late childhood onwards, most likely due to nerve entrapment. Auditory and vestibular functions were followed in 3 young family members for 8 years. At the first examination, pure tone audiograms were normal in all 3 cases and case 1 showed no caloric response in the right ear. During follow-up, this ear developed severe hearing loss progressing to deafness. The left ear showed transient sensorineural hearing loss and a temporarily diminished caloric response. Similar observations were made in case 2. Both cases showed abnormal brain stem auditory-evoked responses during and after the sudden hearing loss, in which initially only wave I was preserved and later on wave V returned with significantly prolonged I-V interval. The latter phenomenon was also observed in case 3 on both sides in the presence of normal audiograms during and after transient unilateral facial nerve paralysis, which was accompanied by bilateral diminished caloric responses.- - - - - - - - - - ranking = 0.38472593971792keywords = osteosclerosis (Clic here for more details about this article) |
3/4. Generalised bone disease with abundant periosteal reaction in megakaryocytic leukaemia.We report an 18-month-old boy with trisomy 21 who presented with abundant, symmetrical periosteal hyperostosis and generalised osteolytic bone disease. Although adequate cytological and immunological studies have not been performed, the clinical course, routine blood and marrow studies allowed us to recognise megakaryoblastic leukaemia (ML) as the cause of these unique X-ray appearances. Conclusion: We present a unique case of generalised bone disease in an infant with trisomy 21. The appearances--clinical course and radiographic appearances--are consistent with ML. Such severe bony changes have not yet been reported in this association. This observation widens the spectrum of ML.- - - - - - - - - - ranking = 0.61527406028208keywords = bone disease (Clic here for more details about this article) |
4/4. melorheostosis: report of a new case with linear scleroderma.melorheostosis is a very rare bone disease of unknown etiology characterised by linear hyperostosis and associated with fibrosis of soft tissues and the skin. This uncommon sclerosing bone dysplasia was first described by Leri and Joanny in 1922, and since then, until 1993, approximately 300 cases were reported in the literature. Linear scleroderma is a localised proliferation of connective tissue and has rarely been associated with melorheostosis. In this paper, we present a new case of melorheostosis with linear scleroderma which, to the best of our knowledge, is the first case reported in turkey.- - - - - - - - - - ranking = 0.10254567671368keywords = bone disease (Clic here for more details about this article) |