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Purpose: Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods: A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results: The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses (82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion: Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.
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INTRODUCTION: Pycnodysostosis is a rare autosomal recessive syndrome that provides the abnormal bone metabolism that increases the susceptibility of patients to develop osteomyelitis. OBJECTIVE: This systematic review was conducted to analyze the risk factors associated with the development of complications in the jaws (fractures and osteomyelitis), as well as their clinical-pathological characteristics and therapeutic approaches in patients with pycnodysostosis. METHODS: Searches were performed in the PubMed, Web of Science, Scopus, Lilacs, and Cochrane databases. Case reports or case series that met the eligibility criteria according to the PRISMA statement were included. The full texts of 31 articles were retrieved. Twenty of these articles published between 1969 and 2018 were selected, which described 26 cases of osteomyelitis in patients with pycnodysostosis. RESULTS: The mean age of the patients was 37.84 years; the male-to-female was 1.36:1. The mandible was the most affected site (76.9%). Tooth extraction was the main risk factor for osteomyelitis (61.5%), followed by infection (26.8%) and mandibular fracture (23.0%). Antibiotic therapy alone or combined with some surgical procedure was the treatment used in most cases (80.7%). CONCLUSION: The findings of this review showed that patients with pycnodysostosis are more likely to develop osteomyelitis of the jaws after surgical procedures, especially tooth extraction which remains the main risk factor for its establishment. In addition, prophylactic antibiotic-therapy in the pre- and postoperative periods may prevent the development of osteomyelitis in pycnodysostosis.
Assuntos
Osteomielite , Picnodisostose , Adulto , Feminino , Humanos , Masculino , Mandíbula , Picnodisostose/complicaçõesRESUMO
Pycnodysostosis (PYCD) is a rare autosomal recessive skeletal dysplasia arising from a change in the production of the cathepsin K enzyme and it is also known as Maroteaux-Lamy Syndrome. The main changes in the buccal and maxillofacial region are modifications of the facial bones (leading to the loss of the mandibular angle due to micrognathia), deep palate, premature and/or delayed tooth eruption, hypopneumatization of the maxillary sinuses, chin hypoplasia, hypercementosis, enamel hypoplasia, hyperdontia, incomplete dentin calcification, root hypoplasia, pulp chamber obliteration, and increased free functional space. This paper aims to report a case of a patient with PYCD, in which are highlighted the oral manifestations of this syndrome and present an option of oral rehabilitative treatment through a removable overdenture made on natural tooth of the patient. The technique of dental coating through overdenture is a simple, viable and conservative alternative for oral rehabilitation of patients with large maxillomandibular discrepancies, as in cases of pycnodysostosis, especially in the presence of increased free space - characteristic of patients with this syndrome. The result was quite satisfactory both aesthetically and functionally and provided a better life quality for the patient.
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ABSTRACT Pycnodysostosis is a rare, autosomal recessive genetic condition, which causes a decrease in bone remodeling, resulting in different clinical and radiographic manifestations. This case series aims to describe two clinical cases diagnosed at the Department of Oral and Maxillofacial Surgery and Traumatology of a University on the Northeast of Brazil. There are two complex cases involving osteomyelitis and dental and bone alterations of the jaws. It is concluded that the knowledge of oral and maxillofacial characteristics of this syndrome are required to plan appropriate treatment for patient in order to avoid complications of dental treatments due to inadequate bone remodeling.
RESUMEN La picnodisostosis es una enfermedad genética rara autosómica, recesiva, con disminución de la remodelación ósea, que ocasiona varias manifestaciones clínicas y radiográficas. Este estudio describe dos casos clínicos diagnosticados en el servicio de cirugía y traumatología bucomaxilofacial de una universidad en el nordeste de Brasil. Los casos son complejos y envuelven osteomielitis, alteraciones dentales y óseas de las mandíbulas. Es necesario conocer las características orales y maxilofaciales de este síndrome para planear el tratamiento adecuado al paciente, con la intención de evitar complicaciones de tratamientos dentales debido a la remodelación ósea inadecuada.
RESUMO A picnodisostose é uma condição genética rara, autossômica recessiva, que ocasiona diminuição da remodelação óssea, resultando em várias manifestações clínicas e radiográficas. Este estudo pretende descrever dois casos clínicos diagnosticados no Serviço de Cirurgia e Traumatologia Bucomaxilofacial de uma universidade no nordeste do Brasil. São dois casos complexos que envolvem osteomielite e alterações dentárias e ósseas dos maxilares. É necessário o conhecimento das características orais e maxilofaciais dessa síndrome para planejar o tratamento adequado para o paciente, a fim de se evitar complicações de tratamentos dentários em virtude do remodelamento ósseo inadequado.
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Resumen: Introducción: La picnodisostosis es una rara enfermedad secundaria en una mutación en el gen 1q21 que codifica la catepsina K, enzima implicada en el metabolismo de osteonectina, osteopontina y colágeno I. La incidencia mundial es de 1-1.7 casos por millón, sin prevalencia por género, se caracteriza clínicamente por talla baja, deformidades craneales, «cara de pájaro¼ y fragilidad ósea con tendencia a fracturas patológicas, que afectan predominantemente los huesos largos y ocasionalmente en los pedículos vertebrales. Radiológicamente es característica la presencia de osteoesclerosis con canales medulares permeables. Aunque existen numerosos reportes de casos clínicos en la literatura, pocos son los que describen familias con más de un individuo afectado y el seguimiento suele ser a corto plazo. Objetivo: Analizar la evolución clínica de los pacientes afectados. Material y métodos: Se realizó estudio retrospectivo, descriptivo, observacional de tres pacientes con diagnóstico de picnodisostosis, en el período de Julio 2006 a Marzo de 2016. Resultados: Se observaron diferentes formas de afectación de la picnodisostosis, algunas de ellas atípicas como la espondilólisis y una fractura de escápula en una paciente. Conclusiones: El presente estudio podría ser el análisis longitudinal más extenso del que se tenga registro. Conocer la variedad de manifestaciones y complicaciones presentadas permitirá al lector seleccionar el mejor método de tratamiento para cada caso.
Abstract: Introduction: Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «bird's face¼ and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term. Objective: To analize clinical evolution of these afected patients. Material and methods: A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016. Results: different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien. Conclusions: The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.
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Humanos , Picnodisostose/complicações , Picnodisostose/diagnóstico , Fraturas Espontâneas/etiologia , Estudos Retrospectivos , Seguimentos , Catepsina K/genéticaRESUMO
INTRODUCTION: Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «birds face¼ and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term. OBJECTIVE: To analize clinical evolution of these afected patients. MATERIAL AND METHODS: A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016. RESULTS: different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien. CONCLUSIONS: The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.
INTRODUCCIÓN: La picnodisostosis es una rara enfermedad secundaria en una mutación en el gen 1q21 que codifica la catepsina K, enzima implicada en el metabolismo de osteonectina, osteopontina y colágeno I. La incidencia mundial es de 1-1.7 casos por millón, sin prevalencia por género, se caracteriza clínicamente por talla baja, deformidades craneales, «cara de pájaro¼ y fragilidad ósea con tendencia a fracturas patológicas, que afectan predominantemente los huesos largos y ocasionalmente en los pedículos vertebrales. Radiológicamente es característica la presencia de osteoesclerosis con canales medulares permeables. Aunque existen numerosos reportes de casos clínicos en la literatura, pocos son los que describen familias con más de un individuo afectado y el seguimiento suele ser a corto plazo. OBJETIVO: Analizar la evolución clínica de los pacientes afectados. MATERIAL Y MÉTODOS: Se realizó estudio retrospectivo, descriptivo, observacional de tres pacientes con diagnóstico de picnodisostosis, en el período de Julio 2006 a Marzo de 2016. RESULTADOS: Se observaron diferentes formas de afectación de la picnodisostosis, algunas de ellas atípicas como la espondilólisis y una fractura de escápula en una paciente. CONCLUSIONES: El presente estudio podría ser el análisis longitudinal más extenso del que se tenga registro. Conocer la variedad de manifestaciones y complicaciones presentadas permitirá al lector seleccionar el mejor método de tratamiento para cada caso.
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Fraturas Espontâneas , Picnodisostose , Catepsina K/genética , Seguimentos , Fraturas Espontâneas/etiologia , Humanos , Picnodisostose/complicações , Picnodisostose/diagnóstico , Estudos RetrospectivosRESUMO
BACKGROUND: Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. METHODS: The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. RESULTS: We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. CONCLUSIONS: The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect.
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Catepsina K/genética , Mutação , Linhagem , Polimorfismo Genético , Picnodisostose/genética , Brasil , Feminino , Efeito Fundador , Homozigoto , Humanos , MasculinoRESUMO
La picnodisostosis es una enfermedad poco común que pertenece a las displasias esqueléticas que presentan fragilidad ósea y fracturas frecuentes. Radiológicamente se caracteriza por incremento de la densidad y fragilidad óseas. OBJETIVO: Presentar el caso de un escolar con displasia esquelética con fracturas en hueso patológico y manejo quirúrgico. CASO CLÍNICO: Escolar de sexo femenino, con antecedente de picnodisostosis detectado en etapa preescolar. Consulta posterior a caída de bicicleta con fractura de ambos fémures que se manejan quirúrgicamente con placa de compresión bloqueada.
Pycnodysostosis is a rare condition within skeletal dysplasias presenting with brittle bones and frequent fractures. Radiologically, it is characterised by increased bone density and fragility. OBJECTIVE: To present the case of a primary schoolchild with skeletal dysplasia with pathological bone fractures and their surgical management. CASE REPORT: A female primary schoolchild with a history of pycnodysostosis detected during the pre-school period. She was seen after bicycle fall that resulted in the fracture of both femurs, that were surgically managed with a locking compression plate.
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Humanos , Feminino , Criança , Fraturas do Fêmur/cirurgia , Fraturas do Fêmur/etiologia , Picnodisostose/complicações , Fixação Interna de Fraturas/métodos , Radiografia , Procedimentos Cirúrgicos Minimamente Invasivos , Fraturas do Fêmur/diagnóstico por imagem , Picnodisostose/diagnóstico por imagemRESUMO
Las fracturas en edad pediátrica son una entidad importante para considerar. Hay enfermedades en que los huesos del niño se fracturan ante traumatismos de menor energía. La picnodisostosis es un tipo inusual de displasia cráneo-metafisaria autosómica recesiva, cuya primera manifestación clínica suele ser una fractura en hueso patológico. Se presenta a una paciente, caucásica, de 9 años de edad, con diagnóstico de picnodisostosis, que ingresó al hospital por fractura del fémur derecho, por un mecanismo de baja energía. Los estudios radiográficos mostraron fracturas del fémur bilateral, fractura proximal de la tibia izquierda y consolidación viciosa en antecurvatum. Esta rara enfermedad se diagnostica a edades tempranas por talla baja, por fracturas repetidas o por traumas de baja energía. Las opciones terapéuticas son limitadas, y no se ha desarrollado una cura definitiva. Es importante, ante un paciente pediátrico con rasgos dismórficos faciales y fracturas en hueso patológico, sospechar displasias óseas, tales como la picnodisostosis y sus diagnósticos diferenciales.
Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia. Pycnodysostosis is a rare disease, generally diagnosed at an early age by growth restriction, frequent fractures or fractures with low energy trauma. Therapy alternatives are limited, and no permanent cure has been developed. If a patient has dysmorphic facial features and fractures in a pathological bone, it is important to suspect bone dysplasia, such as pycnodysostosis and its differential diagnoses.
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Humanos , Feminino , Criança , Traumatismo Múltiplo/etiologia , Fraturas Ósseas/etiologia , Picnodisostose/complicaçõesRESUMO
Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia. Pycnodysostosis is a rare disease, generally diagnosed at an early age by growth restriction, frequent fractures or fractures with low energy trauma. Therapy alternatives are limited, and no permanent cure has been developed. If a patient has dysmorphic facial features and fractures in a pathological bone, it is important to suspect bone dysplasia, such as pycnodysostosis and its differential diagnoses.
Las fracturas en edad pediátrica son una entidad importante para considerar. Hay enfermedades en que los huesos del niño se fracturan ante traumatismos de menor energía. La picnodisostosis es un tipo inusual de displasia cráneo-metafisaria autosómica recesiva, cuya primera manifestación clínica suele ser una fractura en hueso patológico. Se presenta a una paciente, caucásica, de 9 años de edad, con diagnóstico de picnodisostosis, que ingresó al hospital por fractura del fémur derecho, por un mecanismo de baja energía. Los estudios radiográficos mostraron fracturas del fémur bilateral, fractura proximal de la tibia izquierda y consolidación viciosa en antecurvatum. Esta rara enfermedad se diagnostica a edades tempranas por talla baja, por fracturas repetidas o por traumas de baja energía. Las opciones terapéuticas son limitadas, y no se ha desarrollado una cura definitiva. Es importante, ante un paciente pediátrico con rasgos dismórficos faciales y fracturas en hueso patológico, sospechar displasias óseas, tales como la picnodisostosis y sus diagnósticos diferenciales.
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Fraturas Ósseas/etiologia , Traumatismo Múltiplo/etiologia , Picnodisostose/complicações , Criança , Feminino , HumanosRESUMO
The aim of this study was to review of the literature to determine the radiographic and clinical maxillofacial features of pycnodysostosis emphasizing the main aspects of interest to the dentist in order to make them fit for the proper treatment of this population. It is important to make the diagnosis as early as possible in order to plan the treatment more suitable to provide a better life's quality to the patients. The most frequent clinical maxillofacial features were: grooved palate, midfacial hypoplasia, mandibular hypoplasia and enamel hypoplasia. The most common radiographic maxillofacial features were: obtuse mandibular angle, frontal/parietal/occiptal bossing, open fontanels and sutures, multiple impacted teeth. The earlier diagnostic of pycnodysostosis has a fundamental role in general health of the patients. We consider that is very important that the dentist know recognize the radiographic and clinical maxillofacial features of pycnodysostosis, which allows correct treatment planning avoiding risks and ensuring better life's quality to the patients.
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Pycnodysostosis is a rare genetic syndrome characterized by short stature, obtuse mandibular angle, frontal, parietal and occipital bossing, open fontanels and cranial sutures, midfacial hypoplasia, acro-osteolysis of the distal phalanges, increased bone density, absence or hipopneumatization of the paranasal sinuses and normal laboratory studies. We report the case of a 35-year-old Brazilian man that was referred to a private clinic with history of dysmorphic facies for evaluation. The clinical and radiological features exhibited by the patient led to a diagnosis of pycnodysostosis. We describe the morphological features of pycnodysostosis with emphasis on the clinical and radiographic maxillofacial findings comparing the data obtained from our case with a literature review.
La picnodisostosis es un síndrome genético raro caracterizado por baja estatura, ángulo de la mandíbula obtuso, prominencias frontal, parietal y occipital, suturas craneales y fontanelas abiertas, hipoplasia del tercio medio de la cara, acroosteolisis de las falanges distales, aumento de la densidad ósea, ausencia o hiponeumatización de los senos paranasales y exámenes de laboratorio normales. Se presenta un caso de paciente brasileño, 35 años de edad, sexo masculino, remitido a clínica privada con historia de facies dismórfico para evaluación. Las características clínicas y radiológicas exhibidas por el paciente llevaron al diagnóstico de picnodisostosis. Se describe las características morfológicas de la picnodisostosis con énfasis en los hallazgos clínicos y radiológicos maxilofaciales, comparando los datos obtenidos en nuestro caso con los hallazgos reportados en la literatura revisada.