Presentación atípica de síndrome de CamuratiEngelmann en una paciente femenina colombiana. Reporte de caso / Atypical presentation of Camurati-Engelmann syndrome in a colombian female patient. Case report

Resumen El síndrome de Camurati-Engelmann, también conocido como displasia diafisaria progresiva, es una enfermedad rara, autosómica dominante y con una prevalencia de uno por cada millón de habitantes. Genera mutaciones del factor de crecimiento transformante beta, que participa en la proliferación ósea. Son frecuentes las manifestaciones osteomusculares y neurológicas, con escasas expresiones de laboratorio. El diagnóstico se basa en la clínica, los hallazgos radiológicos y la confirmación genética; el tratamiento se dirige al control sintomático y el pronóstico es incierto. La presente publicación tiene como objetivo compartir con la comunidad médica el tercer caso de síndrome de Camurati-Engelmann conocido en Colombia. Se trata de una paciente femenina de 33 años con cuadro clínico de distonías intensas y signos y síntomas característicos de este síndrome, cuyo diagnóstico fue confirmado por prueba molecular, encontrando la presencia de la variante patogénica p.Arg156Cys en el gen TGF-β1, con presentación de novo. MÉD.UIS.2021;34(1): 119-27.

Abstract Camurati-Engelmann syndrome, also known as progressive diaphyseal dysplasia, is a rare, autosomal dominant disease with a prevalence of one per million inhabitants. It generates mutations of the transforming growth factor beta, which participates in bone proliferation. Osteomuscular and neurological manifestations are frequent, with few laboratory expressions. The diagnosis is based on the clinic, radiological findings, and genetic confirmation, treatment is aimed at symptom control and prognosis is uncertain. The objective of this publication is to share with the medical community the third case of Camurati-Engelmann syndrome known in Colombia. This is a 33-year- old female patient with a clinical picture of intense dystonia and characteristic signs and symptoms of this syndrome, whose diagnosis was confirmed by molecular testing, finding the presence of the pathogenic variant p.Arg156Cys in the TGF-β1 gene, with de novo presentation. MÉD.UIS.2021;34(1): 119-27.

Regarding Camurati-Engelmann Disease: To the Editor

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Regarding Camurati-Engelmann Disease: In Reply

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Orthopedic Manifestations of Type I Camurati-Engelmann Disease

BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son. RESULTS: We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m²). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain. CONCLUSIONS: CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.

Peroné pro-tibia modificado: transferencia de peroné vascularizado ipsilateral por técnica percutánea. a propósito de un caso / Modified fibula-pro-tibia: ipsilateral vascularized fibular transfer by percutaneous technique. A purpose of a case

Ante defectos masivos a nivel de la tibia, se consideran técnicas que comprometan mínimamente las partes blandas y garanticen la viabilidad, funcionalidad de la extremidad y sea accesible para la población. Por primera vez en la literatura, a propósito de un caso, se describe la técnica de Huntington y se modifica de manera netamente percutánea, tomando como criterio de selección una extremidad severamente lesionada, con gran defecto diafisiario, para lo cual se realizó centralización del peroné de manera percutánea y fijación externa con alambres de Kirschner y retiro de material a los 5 meses. Actualmente, presenta discrepancia de miembros inferiores de 5cms, y marcha independiente soportada con suela compensatoria. Esta técnica puede ser empleada en niños y adolescentes; no se recomienda en caso de zonas metafiso-epifisiarias. Se basa en el menor compromiso de partes blandas, menor desperiostización y posibilidad de lesiones vasculonerviosas; ofrece una solución viable ante grandes defectos tibiales a ser considerado por el cirujano ortopedista(AU)

Several techniques have been considered to improve major tibia defects, all of them have been in minimally invasive surgery with less injury on the soft tissue, ensuring function and viability of the extremity, as well as and easy treatment access by patients. This is first time in literature Huntington's technique is described and modified purely to the percutaneous level, with an evidence degree type IV. In this particular case we took into consideration the selection of a severely-injured extremity with a large diaphysis defect, which experienced centralization of the fibula to Huntington's technique, was rearranged at the percutaneous level, and externally fixated temporally with Kirschner needle. Lower discrepancy less than 5 centimeters between both extremities is showed as final results; supported independent walking with compensatory sole. This technique can be used in children and adolescents; however it is not recommended in cases where metaphyseal- epiphyseal zones are affected. Aiming to goal for the least damage and compromise of the soft tissue, as well as periosteomy, and possibilities of vascular or nervous lesions, this technique offers a viable solution against major tibia defects and could be considered by the orthopedic surgeon(AU)

Doença de Camurati-Engelmann: relato de caso / Camurati-Engelmann disease: case report

Objetivos: Fornecer informações sobre a doença de Camurati-Engelmann, também conhecida como displasia diafisária progressiva, possibilitando o seu diagnóstico pelo profissional de saúde. Método: Relato de caso associado à revisão da literatura científica sobre o tema. Discussão: Doença rara, de herança autossômica dominante, caracterizada por hiperostose progressiva com envolvimento das diáfises dos ossos. Os sintomas mais comuns são dores em extremidades, alteração da deambulação, fatigabilidade e fraqueza muscular. Seu diagnóstico é clínico-radiológico. O tratamento consiste basicamente na administração de glicocorticóides e anti-inflamatórios não esteroidais para melhorar os sintomas clínicos como dor e fadiga...

Goals: To provide information about Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, allowing its diagnosis by a healthcare professional. Methods: A case report associated with literature review. Discussion: It is a rare, autosomal dominant type, disease characterized by progressive hyperostosis involving the diaphysis of bones. The most common clinical symptoms are pain in extremities, waddling gait, fatigability and muscle weakness, the diagnosis may be determined by clinical and radiological data. Treatment involves basically glucocorticosteroids and non-steroid anti-inflammatory administration to promote improvement in clinical symptoms such as pain and fatigue...

Camurati-Engelmann disease: typical manifestations of a rare disease / Doença de Camurati-Engelmann: manifestações típicas de uma doença rara

A displasia diafisária progressiva ou doença de Camurati-Engelmann é uma doença rara, caracterizada por dor e fraqueza muscular dos membros afetados e espessamento progressivo da cortical diafisária dos ossos longos. Os autores descrevem o caso clínico de um doente com manifestações iniciais da doença na infância, mas cujo diagnóstico só foi estabelecido durante a idade adulta, depois de evoluída a doença e após surgirem as mesmas manifestações em um dos filhos. Salienta-se a dificuldade no diagnóstico e a relevância do diagnóstico diferencial com outras doenças que cursam com osteoesclerose e/ou hiperostose. Na literatura é rara a descrição da sua evolução ao longo dos anos.

Camurati-Engelmann Disease or progressive diaphyseal dysplasia is a rare disease, characterized by limb pain and muscular weakness, and cortical thickening of the diaphyses of long bones. The authors report a case of a male patient with manifestations since his childhood, whose diagnosis was established later on, when he was an adult, with the disease already progressed, and when the same manifestations began in one of his sons. The importance of the differential diagnosis regarding other diseases concurrent with osteosclerotic and/or hyperostotic changes is emphasized here. Description of its evolution along the years is rarely found in the literature.

Camurati-Engelmann's Disease on (99m)Tc-MDP Bone Scan / 핵의학분자영상

A 24 year-old female presented for a (99m)Tc-methylene diphosphonatae (MDP) whole body bone scan due to chronic pain in the bilateral lower extremities that has aggravated since 2002. She was diagnosed with Camurati-Engelmann disease (CED) based on the clinical and radiological findings in 2002, and she re-visited our institute to evaluate disease status at this time. CED is a rare autosomal dominant type of bone dysplasia characterized by progressive cortical thickening of long bones, and narrowing of medullary cavity, and thus presents with typical clinical symptoms and signs such as chronic pain in the extremities, muscle weakness, and waddling gait. On the (99m)Tc-MDP bone scan performed to evaluate disease status, intense increased uptake was seen in the skull, facial bones, bilateral scapulae, bilateral long bones, and bilateral pelvic bones, which clearly demonstrated the extent of CED involvement.

The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis

Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.

Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis.

We describe a rare syndrome characterized by severe craniofacial hyperostosis, sclerosis, obliteration of paranasal sinuses and foramina of skull base, in a 10-year-old female child who presented with abnormal facial features and recurrent dacryocystitis due to narrowing of nasolacrimal duct.

Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.

Ghosal type hemato-diaphyseal dysplasia is a recently described clinical entity. The authors describe such a case with severe anemia requiring transfusions and with clinical and radiological evidence of diaphyseal dysplasia. Very few such cases are reported in world literature.

A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).</p><p><b>METHODS</b>Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.</p><p><b>RESULTS</b>Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.</p><p><b>CONCLUSION</b>The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.</p>

Doença de Camurati-Engelmann: relato de caso com acometimento ósseo grave / Camurati-Engelmann disease: a case report of a patient with severe bone involvement

Neste artigo é descrito um caso da doença de Camurati-Engelmann em um paciente do sexo masculino, com 32 anos de idade, que foi submetido a avaliação radiológica por radiografias simples, cintilografia óssea e tomografia computadorizada, as quais mostraram achados clássicos dessa síndrome e alguns aspectos incomuns vistos somente em casos com acometimento ósseo grave.

Osteodistrofias raras do osso temporal / Rare osteodysplasia of the temporal bone

As osteodistrofias do osso temporal podem se manifestar de diversas maneiras, como envolvimento restrito ao osso temporal ou com envolvimento de outros ossos do crânio ou ainda fazerem parte de uma manifestacão sistêmica. Consideramos, em nosso trabalho, duas entidades como osteodistofias raras, a osteopetrose e a doenca de Camurati-Engelmann, esta última de incidência extremamente rara, com poucos relatos na literatura. Apresentamos dois casos de osteopetrose em sua forma benigna (doenca de Albers-Schõenberg), um paciente de 11 anos e outro de 48 anos, ambos do sexo masculino, e um paciente de 28 anos do sexo feminino com a doenca de Camurati-Engelmann (displasia diafisária hereditária progressiva), doencas hereditárias autossômicas que apresentam sintomas diversos. A paralisia facial periférica se manifestou em dois dos nossos pacientes. Discutimos alguns aspectos relacionados às manifestacões clínicas destas doencas, achados radiológicos, assim como o diagnóstico diferencial e a conduta terapêutica diante de complicacões das doencas.

Engelmann's disease with optic atrophy.

Engelman-Camurati disease is a rare Diaphyseal dysplasia, characterized by endosteal and periostal thickness of cortex of shaft of tubular bone sparing metaphysis and epiphysis. The bone of the hand, feet, ribs, scapulae and pubis are not affected.

Atrofia Óptica e Doença de Camurati-Engelmann / Optic atrophy and Camurati-Engelmann disease

Objetivo: Relato de caso de atrofia óptica bilateral secundária à Doença de Camurati-Engelmann. Local: Clivan - Instituto de Oftalmologia. Métodos: Os autores descrevem uma criança de 10 meses com nistagmo, estrabismo, atrofia óptica bilateral e alterações esqueléticas. Os exames clínico e radiológico permitiram o diagnóstico da displasia diafisária progressiva - Doença de Camurati-Engelmann. Conclusão: A proliferação óssea na Doença de Camurati-Engelmann pode causar compressão do canal óptico e atrofia óptica. A atrofia óptica na criança, quando detectada, deve ser prontamente investigada a fim de evitar a progressão do dano funcional.

Doença de Camurati-Engelmann. Relato de caso / Camurati-Egelmann disease. Case report

Os autores relatam um caso de doença de Camurati-Engelmann em paciente do sexo masculino, com 26 anos de idade, avaliado radiologicamente através de cintolografia óssea, radiografia simples e tomografia computadorizada. Ressalta-se a importância do diagnóstico diferencial com outras doenças que cursam com hiperostose e o emprego de corticóide para controle do quadro álgico.

Evaluacion clinica, humoral y centellografica de un bisfosfonato como posible tratamiento en dos casos de displasias diafisarias: las enfermedades de Ribbing y Camurati-Engelmann / Clinical, humoral and centellographic assessment of pamidronate as potential treatment of diaphyseal dysplasia: Ribbing and Cammurati-Engelmann diseases

Se presenta la evolución a corto plazo de 2 casos de displasias diafisarias, uno de enfermedad de Ribbing y el otro de Camurati-Engelman, tratados con pamidronato disódico, por vía oral. El diagnóstico se verificó por el cuadro clínico, bioquímico y radiológico, este último mostrando el típico engrosamiento de las corticales diafisarias. Aunque tratándose de patologías condensantes, la medicación se administró porque ambos casos presentaban recambio óseo acelerado, evidenciado por los marcadores bioquímicos del metabolismo fosfo-cálcico y la hipercaptación en la centellografía esquelética. El bisfosfonato produjo mejorías clínicas, reduciendo el dolor óseo, mejorándo la deambulación de las pacientes y normalizando la actividad metabólica. Se consideran a estos efectos como francamente positivos en estas displasias, carentes de tratamiento específico.