Bone Abstracts

Background: Treatment with multipotent mesenchymal stromal cells (MSC) has the potential to ameliorate mesodermal disorders.Objective: To treat severe osteogenesis imperfecta (OI) with fetal MSC.Methods: Ten years ago, we treated a fetus with OI type III (COL1A2: c.3008G>A, p.Gly1003Asp) in utero with fetal HLA-mismatched MSC. The procedure was uncomplicated. At the age of 4 months i.v. pamidronete treatment was starte...

Osteonecrosis of the jaw (ONJ) has been recently described after i.v. administration of amino-bisphosphonates and – less frequently – in association with the use of oral bisphosphonates. Bisphosphonate-related osteonecrosis of the jaw (BRONJ) may affect mandible bone (65%), maxilla bone (26%) and rarely (9%) both sites simultaneously. Although causality may never be proven, emerging experimental data have established a strong association between monthly i.v. bisphosp...

Background: Juvenile Paget’s disease (JPD) is a rare autosomal-recessive condition. The disease is typically diagnosed in infants or young children and characterized by a generalized increased in bone turnover, bone pain, skeletal deformity and increased risk of pathological fractures. In our knowledge, inactivating mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause JPD, yet. There are no randomized controlled trials which to offer the optimal form of t...

Introduction: The availability of bone turnover markers (BTMs) that are kidney independent has facilitated the monitoring of bone turnover in renal patients with hyperparathyroid bone disease. The effects of Cinacalcet on BTMs and on the relationship between parathyroid hormone (PTH) and BTMs were studied.Methods: The formation marker procollagen type 1 N propeptide (P1NP) and resorption marker tartrate resistant acid phosphatase 5b (TRACP5b) were measur...

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare form of inherited isolated renal phosphate wasting with two distinct clinical phenotypes; early-onset and late-onset. Late-onset ADHR is characterized by normal phosphate levels and growth during childhood, followed by osteomalacia with bone pain, pseudofractures and weakness in adolescence or adulthood, but with no lower extremity deformities. Most of the late-onset ADHR patients are women and pregnanc...

Introduction: Fibrous dysplasia (FD) of bone is a benign, non-inheritable disease characterized by bone pain, bone deformities and fractures. Its prevalence is ~1 in 30 000 individuals and diagnosis is based on the clinical and radiologic findings and is confirmed by biopsy. Yet, in some cases biopsy is not applicable.Case report: A young woman presented to our outpatient clinic with a history of pain localized at the distal half of the left tibia that h...

Introduction: Pregnancy- and lactation-associated osteoporosis (PLO) is an uncommon disease. The majority of cases are seen in the third trimester or early post-partum in the primagravid women and the prominent clinical feature of PLO is the severe and prolonged back pain and height loss. To date the prevalence and the aetiology of this disorder are unclear and there are no guidelines for its treatment.Case report: We report the outcomes of teri...

Hypophosphatasia is a recessively inherited disorder with a wide phenotypic manifestation ranging from lethality in neonates to asymptomatic in adults. The severity of the phenotype is largely determined by the nature of the ALPL mutations. We describe a previously asymptomatic adult whose phenotype dramatically changed after he developed renal failure. A 50-year-old man was diagnosed with IgA nephropathy. At age 52 (eGFR 50 ml/min) he suffered his first metatarsal fr...

Fibrodysplasia ossificans progressiva (FOP) or miyositis ossificans progressiva is a hereditary mesodermal tissue characterized by progressive ossification of striated muscle, tendon, ligament, fasciae, aponeurose and occasionally skin. A single common heterozygous mutation has been identified in the cytoplasmic domain of activin receptor IA/activin-like kinase 2 (ACVR1/ALK2). FOP is very rare with a worldwide prevalence of ~1 case in 2 million individuals. Diagnosis is based ...

Objectives: To describe two familiar cases of Hajdu–Cheney syndrome, a rare genetic disorder associated with skeletal dysplasia, craniofacial abnormalities, short stature, acro-osteolysis and osteoporosis.Materials and methods: A 51-year-old woman (case 1) presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She had facial and cranial abnormalities: thin lips, long philtrum, full ...

Introduction: Gorham disease (GD), also known as Gorham–Stout syndrome, massive osteolysis or disappearing bone disease, is a very rare disease characterized by spontaneous and progressive osteolysis of one or more bones. Its prognosis is highly variable and unpredictable, ranging from minimal disability to death, due to involvement of vital structures, such as the vertebral column and rib cage. Osteoclasts hyperactivity has been suggested as potential pathogenetic abnorm...

Objectives: To describe the response to treatment with teriparatide for osteoporosis associated with Hajdu–Cheney syndrome after a follow-up 2 years.Material and methods: A 51-year-old woman presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She also had some facial and cranial abnormalities: thin lips, long philtrum, full cheeks, micrognathia, short neck, bushy eyebrows and coa...