Enfermedad de Ribbing: a propósito de un caso / Ribbing disease: apropos of a case

Resumen: La enfermedad de Ribbing es una forma rara de displasia ósea esclerosante caracterizada por una formación exuberante, aunque benigna, de hueso endóstico y periostio en la diáfisis de los huesos largos. El diagnóstico se basa en criterios de exclusión, ya que las manifestaciones clínicas principales implican dolor progresivo que no responde a analgésicos, acompañado de marcadores serológicos normales. El manejo del dolor constituye la piedra angular del tratamiento y la cirugía parece ofrecer el enfoque más efectivo, a pesar de no contar con un algoritmo terapéutico estandarizado. Los retrasos diagnósticos y terapéuticos asociados con la enfermedad de Ribbing, que pueden alcanzar hasta 16 años, impactan profundamente en la calidad de vida de los pacientes. Por lo tanto, el propósito de nuestro trabajo es presentar un reporte de caso de la enfermedad de Ribbing y realizar una revisión bibliográfica exhaustiva sobre el tema.

Abstract: Ribbing's disease is a rare form of sclerosing bone dysplasia characterized by exuberant yet benign endosteal bone, and periosteum formation in the diaphysis of long bones. Diagnosis relies on exclusionary criteria, as the primary clinical manifestations entail progressive pain unresponsive to analgesic therapy, accompanied by serological markers within normal ranges. Pain management constitutes the cornerstone of treatment, with surgery appearing to offer the most efficacious approach, despite the absence of a standardized therapeutic algorithm. The diagnostic and therapeutic delays associated with Ribbing's disease, reaching up to 16 years, exert a profound impact on patients' quality of life. Hence, the purpose of our work is to present a case report of Ribbing's disease and conduct a comprehensive literature review on the subject matter.

Coronal plane growth modulation for genu valgum in skeletal dysplasia / Modulação do crescimento do plano coronal para genu valgum na displasia esquelética

ABSTRACT Objective: To investigate the efficiency and rates of correction by hemiepiphysiodesis using 8-plate to manage genu valgum deformity in children with skeletal dysplasia. Methods: Eleven children with skeletal dysplasia (three female, eight male; mean age = 10.5 years; age range = 7-13) who underwent temporary hemiepiphysiodesis using 8-plates for genu valgum deformity were retrospectively reviewed. There were nine bilateral cases and two unilateral cases. The mean follow-up time from the index surgery to the final follow-up was 45 (ranging from 24 to 72) months. Radiographical assessment including preoperative and final follow-up measurements of joint orientation angles and mechanical axis deviation (MAD) were conducted. Results: Deformities were completely corrected in nine lower extremities (45%) and partially corrected in seven extremities (35%). In four extremities of two children with Morquio syndrome, MAD worsened. The correction rate of MAD was 1.25 ± 1.62 mm/mo. Conclusion: Though hemiepiphysiodesis using 8-plate requires a longer treatment period, it seems to be an effective treatment for correction of genu valgum in children with skeletal dysplasia. Level of Evidence IV, Case Series.

RESUMO Objetivo: Investigar a eficiência e as taxas de correção da hemiepifisiodese usando placa-8 no tratamento da deformidade de geno valgo em crianças com displasia esquelética. Métodos: Foram avaliadas retrospectivamente 11 crianças com displasia esquelética (três meninas e oito meninos; idade média = 10,5 anos; faixa etária = 7-13) que foram submetidas à hemiepifisiodese temporária com placa-8 devido à deformidade do geno valgo. Havia nove casos bilaterais e dois casos unilaterais. O acompanhamento médio desde a cirurgia de implante até o acompanhamento final foi de 45 (variação de 24 a 72) meses. Foi feita avaliação radiográfica incluindo medidas de acompanhamento pré e pós-operatórias dos ângulos de orientação da articulação e desvio mecânico do eixo (MAD). Resultados: As deformidades foram completamente corrigidas em nove extremidades inferiores (45%) e parcialmente corrigidas em sete (35%). Em quatro extremidades de duas crianças com síndrome de Morquio, o MAD piorou. A taxa de correção do MAD foi de 1,25 ± 1,62 mm/mês. Conclusão: Embora a hemiepifisiodese com placa-8 necessite de um período de tratamento mais longo, a técnica parece ser um tratamento eficaz para a correção do geno valgo em crianças com displasia esquelética. Nível de Evidência IV, Série de Casos.

Desorden esquelético con malformaciones faciales en cerámico de la cultura Moche / Skeletal disorder with facial malformations in ceramic of Moche Culture

RESUMEN La cultura Moche se desarrolló entre los años 200 y 850 d. C. en la costa norte del Perú. Sus vasijas de cerámica presentan un gran nivel de detalle, alto grado de realismo y se ha podido identificar distintas malformaciones físicas en sus representaciones. Se presenta el caso del cerámico C-00122 del Museo de Historia Natural y Cultural de la Universidad Privada Antenor Orrego (MHNC-UPAO), con un cuadro de desorden esquelético asociado a malformaciones faciales, además se plantean una serie de posibles diagnósticos etiológicos.

ABSTRACT Moche is a culture that developed between 200 y 850 AD in the Peruvian northern coast. Their pottery artefacts were crafted showing many details, they were very realistic, and different physical malformations have been identified in these pieces. We present the case of the piece C-00122 that is kept in the Natural and Cultural History Museum of Universidad Privada Antenor Orrego (NCHM-UPAO), which shows a skeletal disorder associated to some facial malformations. We discuss the case and propose different likely diagnoses.

Florid cemento-osseous dysplasia: a contraindication to orthodontic treatment in compromised areas

ABSTRACT Florid cemento-osseous dysplasia is a sclerosing disease that affects the mandible, especially the alveolar process, and that is, in most cases, bilateral; however, in some cases it affects up to three or even four quadrants. During the disease, normal bone is replaced with a thinly formed, irregularly distributed tissue peppered with radiolucent areas of soft tissue. Newly formed bone does not seem to invade periodontal space, but, in several images, it is confused with the roots, without, however, compromising pulp vitality or tooth position in the dental arch. There is no replacement resorption, not even when the images suggest dentoalveolar ankylosis. Orthodontists should make an accurate diagnosis when planning treatments, as this disease, when fully established, is one of the extremely rare situations in which orthodontic treatment is contraindicated. This contraindication is due to: (a) procedures such as the installment of mini-implants and mini-plaques, surgical maneuvers to apply traction to unerupted teeth and extractions should be avoided to prevent contamination of the affected bone with bacteria from the oral microbiota; and (b) tooth movement in the areas affected is practically impossible because of bone disorganization in the alveolar process, characterized by high bone density and the resulting cotton-wool appearance. Densely mineralized and disorganized bone is unable to remodel or develop in an organized way in the periodontal ligaments and the alveolar process. Organized bone remodeling is a fundamental phenomenon for tooth movement.

RESUMO A displasia cemento-óssea florida é uma doença óssea esclerosante exclusiva dos maxilares, relacionada ao osso do processo alveolar e, na maioria dos casos, envolvendo bilateralmente a mandíbula; mas há casos em que envolve três ou até os quatro quadrantes. Nesse processo, troca-se o osso normal por um tecido densamente formado, irregularmente distribuído e salpicado por áreas radiolúcidas com tecido mole. O osso neoformado parece não invadir o espaço periodontal, mas, em muitas imagens, confunde-se com as raízes, sem comprometer a vitalidade pulpar e a posição dentária na arcada. Não há reabsorção dentária por substituição, mesmo quando as imagens sugerem anquilose alveolodentária. Um diagnóstico preciso por parte do ortodontista deve ser feito em seus planejamentos, visto que essa doença, quando se encontra plenamente instalada, representa uma das raríssimas situações em que o tratamento ortodôntico está contraindicado. Nesses casos, o tratamento ortodôntico está contraindicado porque: a) alguns procedimentos, como a aplicação de mini-implantes e miniplacas, manobras cirúrgicas para tracionamento de dentes não irrompidos e exodontias, devem ser evitados, para se impedir a entrada de bactérias da microbiota bucal no osso comprometido; e b) a possibilidade de movimentação dos dentes nas áreas comprometidas praticamente inexiste, pela desorganização óssea no processo alveolar, caracterizada por elevada densidade óssea, que gera as imagens tipo flocos de algodão. O osso densamente mineralizado e desorganizado não é capaz de se remodelar e desenvolver organizadamente, nos ligamentos periodontais e no osso do processo alveolar. A remodelação óssea organizada é fundamental como um dos fenômenos necessários para o deslocamento dos dentes.

Síndrome de Jeune en un paciente pediátrico: Reporte de caso clínico / Jeune syndrome in a pediatric patient: A clinical case report

El síndrome de Jeune es una displasia esquelética de baja frecuencia, de transmisión autosómica recesiva y potencialmente mortal. Clínicamente tiene una amplia variedad de manifestaciones; En forma clásica se presenta con un tórax estrecho, hipoplasia pulmonar secundaria, braquimelia, anormalidades pélvicas, cardiacas y renales. El compromiso pulmonar es variable y puede ser letal. El diagnóstico puede sospecharse prenatalmente con el estudio ultrasonográfico al medir la circunferencia torácica y de la jaula costal, estudiar su relación entre sí y con la circunferencia abdominal. En este artículo se describe el caso clínico de una paciente de 3 meses de edad, con forma de presentación leve y diagnóstico posnatal.

Jeune syndrome is a low frequency, autosomal recessive and potentially life-threatening skeletal dysplasia. From a clinical perspective, it has a wide variety of manifestations; however, it is commonly characterized by a narrow thorax; secondary pulmonary hypoplasia; brachymelia; and pelvic, cardiac and renal abnormalities. Lung involvement is variable and may be lethal. The diagnosis may be suspected prenatally through an ultrasonography, by measuring the thoracic and rib cage circumference, and studying the relation between them and with the abdominal circumference. This article describes the clinical case of a 3-month-old female patient with a mild disease presentation and postnatal diagnosis.

Management of Melorheostosis / 대한정형외과학회잡지

Melorheostosis is a very rare sclerosing bone disease with pain, joint stiffness, and limitation of motion. Its characteristic on radiography is a dense bone formation along the side of the bone, resembling the flow of candle grease. Various conservative or surgical methods have been practiced in treating pain and deformities. This is a report on the successful treatment result of six cases of melotheostosis, involving the metatarsal, metacarpal, clavicle, and tibia, which weretreated by conservative and operative treatment methods.

Condrodisplasia metafisaria tipo Schmid: presentación de un caso / Schimd methaphyseal chondrodysplasia: a case presentation

Fundamento: condrodisplasia metafisaria tipo Schmid, forma parte de las displasias óseas poco frecuentes. Se caracteriza por talla baja, genu varum, pélvis pequeña, cifoescoliosis progresiva, deformidad de la muñeca, miopía, huesos largos cortos y displasia metafisaria grave, con cambios moderados en la columna y cambios mínimos en las manos y los pies. Objetivo: presentar un caso con diagnóstico de displasia ósea tratado por un equipo multidisciplinario para su posterior corrección quirúrgica. Caso clínico: paciente femenina de tres años de edad, con deformidad en miembros inferiores que le provocan baja talla por genu varum. Los antecedentes familiares no refieren datos de interés. En los antecedentes personales prenatales, perinatales y posnatales se encontró que el desarrollo fue normal hasta los 16 meses que comienza a caminar y se observa ligera deformidad que fue aumentando. Conclusiones: la condrodisplasia metafisaria tipo Schmid es una enfermedad hereditaria poco frecuente que se presenta con un patrón de herencia autonómico dominante. Al no existir otro miembro de la familia afectado, se planteó que en este caso ocurrió una nueva mutación o mutación de novo. Es necesario indagar acerca de su presencia en un paciente con deformidad severa de miembros inferiores, con estudio renal y bioquímicos normales. Es importante realizar un diagnóstico precoz, tratamiento y seguimiento multidisciplinario para corregir la deformidad con tratamiento quirúrgico.

Background: methaphyseal chondrodysplasia is a type of non-frequent bone dysplasia. It is characterized by short stature, genu varum, small pelvis, progressive kyphoscoliosis, wrist deformities, myopia, short long bones and serious methaphyseal dysplasia with moderate changes in the back and minimal changes in hands and feet. Objective: to present the case of a patient with the diagnosis of bone dysplasia treated by a multidisciplinary medical team for a subsequent surgical correction. Clinical case: a three-year-old female patient with a deformity in the lower limbs that causes short stature by genu varum. There was no information of interest in the family medical history. The medical history of the patient showed a normal prenatal, perinatal and postnatal development until she turned 16 months old and started to walk presenting a slight deformity that increased. Conclusions: Schmid methaphyseal chondrodysplasia is an uncommon hereditary disease with a dominant autosomal heredity pattern. Since no other member in the family was affected, there was a De novo mutation in this case. It is necessary to search for its presence in a patient with a serious deformity in the lower limbs with normal biochemical and renal studies. It is important to make an early diagnosis as well as to carry out a treatment and a multidisciplinary follow-up to correct the deformity by means of surgical treatment.

Displasia cemento-óssea florida: uma das poucas contraindicações de implantes osseointegráveis / Florid cemento-osseous dysplasia:one of the few contraindications to osseointegrated implants

A Displasia Cemento-Óssea Florida representa uma das poucas situações clínicas de contraindicação para a colocação de implantes osseointegráveis. Como qualquer outro procedimento cirúrgico, inclusive a biópsia, se realizada, a colocação de implante pode abrir as portas para as bactérias acessarem o ambiente ósseo. O osso altamente esclerosado e irregular representa um meio adequado para a proliferação bacteriana e constituição de exuberantes biofilmes microbianos, impedindo o acesso ao local das células e moléculas da defesa orgânica, assim como de antibióticos que, por ventura, venham a ser administrados para o tratamento de uma Osteomielite Crônica Purulenta Secundária, muito comumente vista em pacientes com Displasia Cemento-Óssea Florida. A doença representa um distúrbio dos maxilares no processo de remodelação óssea e, apesar de sua elevada frequência, ainda não se sabe suas causas ou fatores associados, exceto sua predominância em pessoas com alguma afrodescendência, especialmente em mulheres de meia idade...

Florid cemento-osseous dysplasia represents one of the few clinical contraindications to osseointegrated implant placement. As in any other surgical procedure, including biopsy, implant placement might open up the doors to bacteria access to the bone environment. Highly sclerosed irregularbone is appropriate for bacteria proliferation and formation of exuberant microbial biofilm, thereby hindering access not only of local cells and molecules of organic defense, but also of antibiotics potentially administered to treat secondary purulent chronic osteomyelitis commonly found inflorid cemento-osseous dysplasia patients. The disease is a disorder of the maxilla, established during the process of bone remodeling; and despite its high frequency, its causes or associated factors remain unknown, except for its predominance among afrodescendents, especially middle-aged women...

Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature.

Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, platyspondyly, telephone handle femurs. Thanatophoric dysplasia is usually diagnosed using second trimester ultrasonography. We report this rare entity from rural India with emphasis on its anatomical features along with review of relevant literature.

Melorreostosis con compromiso de múltiplesestructuras óseas y distribución inusual / Melorheostosis with involvement of multiple bone structures and unusual distribution

La melorreostosis, también denominada enfermedad de Leri, es una displasia ósea esclerosante no familiar, de baja prevalencia, de etiología poco clara, descrita en 1922 por Leri y Jhonny; afecta igualmente a hombres y mujeres, suele manifestarse alrededor de los 20 años de edad, hasta en la mitad de los casos. Esta osteopatía es usualmente asimétrica y compromete, principalmente, las extremidades inferiores, siendo raro el compromiso del cráneo, huesos de la cara y de la columna. Se presenta un caso de una paciente, de 49 años de edad, con compromiso de múltiples estructuras óseas y distribución inusual.

Melorheostosis, also called Leri’s disease is a non-familial sclerosing bone displasia, with low prevalence and a etiology that remains unclear, it was described in 1922 by Leri and Jhonny; it affects men and women equally; it usually makes evident by age 20 years in almost half cases. This bone disease is usually asymmetric and involves primarily the lower extremities, with rare involvement of the skull, facial bones and spine. We report a case of a 49 years old, with involvement of multiple bone structures and unusual distribution.

Osteopetrosis: reporte de un caso en paciente de 20 años / Osteopetrosis: a case report in a 20 years old patient

Introducción: El concepto de Osteopetrosis agrupa un conjunto de enfermedades óseas caracterizadas por aumento de la densidad ósea, debido a una disfunción osteoclástica. Esto determina una insuficiente resorción ósea, provocando un aumento en la densidad ósea, osteoesclerosis generalizada, disminución de la resistencia ósea e incluso supresión de la médula ósea. Presentación del caso: Paciente de sexo masculino, de 20 años de edad, antecedentes de consanguinidad, con diagnóstico de osteopetrosis. Se destacan hidrocefalia, retraso del desarrollo psicomotor, anopsia bilateral, fracturas reiteradas, osteomielitis maxilar bilateral crónica e hipoplasia medular. Consulta frecuentemente por episodios reiterados de diátesis hemorrágica (epistaxis y gingivorragia). Radiografías revelan aumento de la densidad ósea, deformidades y esclerosis ósea difusa. Discusión: Llama la atención la prolongada sobrevivencia de este paciente, mantenido con transfusiones de eritrocitos y plaquetas frente a cada episodio hemorragíparo. Conclusiones: El diagnóstico precoz y tratamiento oportuno evitarán alteraciones irreversibles, optimizando la calidad de vida de los pacientes y sus familias.

Introduction: Osteopetrosis refers to a group of bone diseases characterized by increased bone density due to osteoclast dysfunction. This leads to insufficient bone resorption, leading to increased bone density, generalized osteosclerosis, decreased bone strength and even bone marrow suppression. Case report: Man 20 years old, history of consanguinity, diagnosticated with osteopetrosis. Stands out hydrocephalus, psychomotor developmental delay, bilateral anopsia, repeated fractures, chronic bilateral maxillary osteomyelitis, and bone marrow hypoplasia. Frequently consult by repeated episodes of hemorrhagic diathesis (epistaxis and gingivorrhagia). X-rays revealed increased bone density, bone deformities and diffuse osteosclerosis. Discussion: Calls the attention the prolonged survival of this patient, maintained with red cell and platelets transfusions after each bleeding episode. Conclusions: Early diagnosis and prompt treatment prevent irreversible damage, optimizing quality of life of patients and their families.