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We report a case of pycnodysostosis and review 54 cases of this syndrome in the Japanese literature, with special emphasis on oral and maxillofacial findings. Common findings were as follows: hypoplasia of maxilla and mandible, hypopneumatization of the maxillary sinuses, loss of mandibular angle, a grooved palate, and malpositioned teeth.
We describe the biochemical and histological features of two related patients with pycnodysostosis. Examination of bone biopsies taken from both patients showed the presence of large nonfunctional osteoclasts which contained paramyxovirus-like inclusions similar in size and arrangement to those found in Paget's disease of bone. No radiographic, histologic or biochemical evidence for Paget's disease was found in either patient. The presence of osteoclast inclusions may not be specific for Paget's disease, therefore, and could be the result rather than the cause of abnormal osteoclast metabolism.
A dwarf suffering from pycnodysostosis was treated for 2 episodes of chronic osteomyelitis of the mandible occurring at an interval of 6 years. Pycnodysostostis, a variant of osteopetrosis, occurs only in dwarfs and is characterised by increased density of bone which may lead to increased susceptibility to fracture and inflammatory disease.
A rare case of a 54-year-old man with pycnodysostosis having subtrochanteric fracture of right femur is being reported. This patient had this fracture after a trivial fall while walking. He had typical facial features, short stature, open fontenella, short stubby hands, high arched furrowed palate and radiological features including open cranial sutures, obtuse angle of mandible, dysplasia of lower end of radius and ulna, notching of lumbar vertebra and generalized skeletal sclerosis. The fracture was treated with an intramedullary nail; the surgery was quite a tedious procedure where we faced per-operative difficulty in reaming. The fracture united in 12 weeks. Extramedullary osteosynthesis might offer a better alternative in such patients as marrow is narrow but healing is normal.
A 23-year-old white woman suffering pycnodysostosis whose parents and five siblings were unaffected was investigated. Chromosomal morphology was normal. Histologic examination of a biopsy specimen obtained from the distal phalanx of the left thumb, corresponding to an area on an x-ray film of osteolysis, showed a fibrous dysplasia-like picture. Kinetic studies of calcium metabolism revealed that exchangeable pool size, turnover, and bone accretion rate were all decreased. Intestinal calcium absorption was investigated simultaneously by a double isotope technique and by deconvolution of the plasmatic specific activity curve of 47Ca given per os. Results obtained by both methods coincided in that values were found to be similarly increased. Endogenous fecal calcium was also determined and revealed a similar increase. Some physiopathological implications of these findings are discussed.
The oral and facial manifestations of pycnodysostosis (Maroteaux-Lamy syndrome) are reviewed, and illustrated by a case in which the presenting feature was delayed and ectopic eruption of permanent teeth.
A case is reported of pycnodysostosis (PCD) with chronic osteomyelitis in the mandible. The clinical and radiological features and the problems of management and follow-up are discussed.
The first Scottish family with pycnodysostosis is reported. The clinical and radiological findings in the two affected men are recorded.
We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure.
Pycnodysostosis is described for the first time in a Pakistani family. Two cases are presented and are contrasted with cases of osteopetrosis seen in this hospital over a twenty year period. The possibility of confusion with osteopetrosis is indicated and discussed.
Pycnodyostosis, an autosomal recessive osteosclerosing skeletal disorder, has recently been shown to result from mutations in the cathepsin K gene. Cathepsin K, a lysosomal cysteine protease with an abundant expression in osteoclasts, has been implicated in osteoclast-mediated bone resorption and remodeling. DNA sequence analysis of the cathepsin K gene in a nonconsanguineous family demonstrated compound heterozygozity for mutations in two affected siblings. We have identified a missense mutation with a single base G-->A transition at cDNA nucleotide 236, resulting in conversion of a conserved glycine to a glutamine residue (G79E). The other mutation is an A-->T transition at nucleotide 154, leading to the substitution of a lysine residue by a STOP codon (K52X) predicting premature termination of the precursor cathepsin K polypeptide. Sequencing of genomic and cDNAs from the parents demonstrated that the missense mutation was inherited from the father and the nonsense mutation from the mother. Protein expression in both affected children was virtually absent, while in the parents was reduced by 50-80% compared with controls. The protein studies demonstrate that even significantly reduced cathepsin K levels do not have any phenotypic effect, whereas absent cathepsin K results in pycnodysostosis.
Pycnodysostosis (Pycno) is an autosomal recessive osteosclerotic skeletal dysplasia that is caused by the markedly deficient activity of cathepsin K. This lysosomal cysteine protease has substantial collagenase activity, is present at high levels in osteoclasts, and is secreted into the subosteoclastic space where bone matrix is degraded. In vitro studies revealed that mutant cathepsin K proteins causing Pycno did not degrade type I collagen, the protein that constitutes 95% of organic bone matrix. To determine the in vivo effects of cathepsin K mutations on bone metabolism in general and osteoclast-mediated bone resorption specifically, several bone metabolism markers were assayed in serum and urine from seven Pycno patients. Two markers of bone synthesis, type I collagen carboxy-terminal propeptide and osteocalcin, were normal in all Pycno patients. Tartrate-resistent acid phosphatase, an osteoclast marker, was also normal in these patients. Two markers that detect type I collagen telopeptide cross-links from the N and C termini, NTX and CTX, respectively, were low in Pycno. A third marker which detects a more proximal portion of the C terminus of type I collagen in serum, ICTP, was elevated in Pycno, a seemingly paradoxical result. The finding of decreased osteoclast-mediated type I collagen degradation as well as the use of alternative collagen cleavage sites by other proteases, and the accumulation of larger C-terminal fragments containing the ICTP epitope, established a unique biochemical phenotype for Pycno.
The case of a seven-years-old girl with features of Maroteaux-Lamy's pycnodysostosis associated with external genital envolvement is reported. Considering the apparent and gradual increase of the clinical traits in this condition, this case may represent some contribution to its nosography. Additionally dermatoglyps technique and analysis were done which peculiar results are discussed.
Two own observations of pycnodysostosis initiated our description of this disease. Inherited as an autosomal recessive trait the syndrome is characterized by a medium degree generalized osteosclerosis, open craniial sutures and fontanels until adult lige, hypoplastic mandibles with deficiency of the angle, prominence of the forehead and occiput, hypoplasia of the paranasal sinuses, commonly observed dysproportionate dwarfism, acro-osteolysis and increased bone fragility. Contrary to osteopetrosis the prognosis is good.
A 50-year-old woman had bilateral subtrochanteric fractures over a period of 9 months; both fractures were found to be in osteosclerotic femora. The patient was multiparous with 5 normal children. Since subtrochanteric fractures represent only 5 per cent of all femoral neck fractures the occurrence of bilateral subtrochanteric fractures in a relatively young woman suggested an unsuspected underlying disease. Clinical and laboratory investigations showed no evidence of systemic, metabolic, infective or malignant disease. The patient's short stature, peculiar facies in association with osteosclerosis in medullated long bones and typical radiographic findings: hypoplastic claviculae, absent ungual tufts of distal phalanges, hypoplastic paranasal sinuses, and obtuse mandibular angles suggested the proposed diagnosis of pycnodysostosis, a rare autosomal recessive osteosclerotic condition, that has been described in less than 50 cases, including only one Jew. Despite 2 technically difficult surgical hip operations, a 3-year follow-up showed good remedullarization of both fractured femora and no limitation in the patient's daily activities.
Pycnodysostosis is an uncommon form of osteosclerosing bone disease. The orthopedic aspects are illustrated by 14 new cases.
Pycnodysostosis is a term introduced by Maroteaux and Lamy in 1962 to describe characteristic features such as dwarfism, separated cranial sutures, open fontanelles, hypoplasia and absence of mandibular angle, partial aplasia of the terminal phalanges of the fingers and toes, generalized condensation of bone shadow, bone fragility, and autosomal recessive inheritance. We reported a such case in a 13-years old boy associated with an epidural hematoma. Four weeks after removal of the hematoma, lumbar puncture was performed with the initial pressure of 200mm H2O in an awake state and the plateau waves were observed several times during sleep. Such increased intracranial pressure may have caused the open fontanelle and cranial sutures in addition to dysostosis. Thus such patients require careful attention in order to prevent major bleeding from the superior sagittal sinus directly beneath the separated sagittal suture.
A study of seven cases of pycnodysostosis belonging to four different families confirmed the autosomal recessive transmission of the disease. In two sibships which included respectively four and six sibs, two sisters were affected. Furthermore, consanguinity of the parents was observed in three of the four families.