Morfeas con manifestaciones cefálicas / Morpheas with cephalic manifestations

Introducción: La hemiatrofia facial progresiva (HFP) o síndrome de Parry-Romberg y la morfea en golpe de sable (MGS) forman parte de las morfeas lineales cefálicas. Son enfermedades inflamatorias crónicas de la piel y tejidos subyacentes, que se caracterizan por esclerosis y atrofia cutánea. Objetivos: Describir las características clínicas, manifestaciones asociadas, histología, laboratorio, estudios complementarios y tratamientos instaurados. Diseño: Estudio retrospectivo descriptivo. Materiales y métodos: Se revisaron las historias clínicas de pacientes con morfea evaluados en el Sector Colagenopatías desde julio de 2010 hasta diciembre de 2016. Resultados: De 56 pacientes, 11 cumplieron con los criterios de inclusión, 7 con diagnóstico de HFP, 2 con MGS y 2 con ambas patologías. El 64% fueron mujeres. Las manifestaciones extracutáneas se presentaron en el 64% de los casos. El tratamiento utilizado en todos los pacientes fue el metotrexato, asociado o no, al uso de corticosteroides sistémicos. Conclusiones: La mayoría de nuestros resultados concuerdan con la bibliografía consultada, excepto las manifestaciones asociadas. Destacamos el tratamiento asociado de metotrexato y pulsos de corticosteroides intravenosos con resultados satisfactorios y bien tolerado. (AU)

Introduction: Progressive facial hemiatrophy (PFH) or Parry-Romberg Syndrome and morphea en coup de sabre are cephalic linear morpheas. They are chronics inflammatories diseases of the skin and underlying tissues, characterized by cutaneous atrophy and sclerosis. Objectives: To describe clinical features, associated extracutaneous manifestations, histological and laboratory findings, imaging and diagnostic modalities and treatments established in patients with diagnosis of HFP, MGS, or both, evaluated in our Department. Design: Retrospective descriptive study. Materials and methods: We included medical histories of patients diagnosed with morphea evaluated in Collagenopathy Sector from July 2010 up to December 2016. Results: Of 56 patients, 11 met the inclusion criteria, 7 with diagnosis of PFH, 2 with morphea en coup de sabre and 2 with both pathologies. 64% were women. 64% showed extracutaneous manifestations. The treatment used in all of the patients was methotrexate, associated or not, with the use of systemic corticosteroids. Conclusions: Most of our results agree with the bibliography consulted, with the exception of the associated manifestations. We emphasize the associated treatment of methotrexate and intravenous corticosteroid pulses with satisfactory results and well tolerated. (AU)

Serie de Casos: Síndrome de Parry Romberg, Resolución Quirúrgica / Case Series: Parry Romberg Syndrome, Surgical Resolution

INTRODUCCIÓN: El síndrome de Parry Romberg o atrofia hemifacial progresiva es una patología caracterizada por causar atrofia facial unilateral con afectación de piel, tejido celular subcutáneo y músculo. Su prevalencia mundial es de 1/700 000, tiene predominio por el sexo femenino con una proporción mujer ­ hombre de 3:2. Clínicamente se manifiesta como una esclerodermia lineal en golpe de sable, y afecta con mayor frecuencia a hemicara izquierda. El tratamiento es de tipo quirúrgico e incluye técnicas como injertos, colgajos o prótesis. CASO CLÍNICO: A continuación se presenta una serie de casos que incluye a tres pacientes que consultaron por alteraciones de la anatomía y el desarrollo facial; quienes posterior a un examen físico minucioso y a la realización de exámenes de imagen, fueron diagnosticados de síndrome de Parry Romberg. EVOLUCIÓN: En todos los casos el tratamiento fue quirúrgico; optándose por la colocación de un injerto dermograso en la zona afectada, el mismo que fue obtenido de la cavidad abdominal. La evolución clínica y la adherencia del injerto fue satisfactoria y sin complicaciones. CONCLUSIÓN: Los resultados obtenidos de la colocación de injertos dermograsos para el tratamiento de la atrofia hemifacial progresiva fueron excelentes a corto, mediano y largo plazo.(au)

BACKGROUND: Parry Romberg syndrome or progressive hemifacial atrophy is an entity characterized by unilateral facial atrophy with involvement of skin, subcutaneous tissue and muscle. Its worldwide prevalence is 1/700 000, with a female - male ratio of 3:2. Clinically it manifests as linear scleroderma and most frequently affects the left side of the face. The treatment is surgery and includes techniques such as grafts, flaps or prostheses. CASE REPORT: The following is a case series that includes three patients, who consulted for anatomic and developmental alterations of the face; who after a meticoluos physical examination and imaging tests were diagnosed with Parry Romberg syndrome. EVOLUTION: In all cases, the treatment was surgery; opting for the placement of a skin graft in the affected area, which was obtained from the abdominal cavity. The clinical evolution and adherence of the graft was satisfactory and without complications. CONCLUSION: The results obtained from the placement of skin graft as the treatment of progressive hemifacial atrophy were excellent in short, medium and long term.(au)

Autologous Fat Transfer to Improve Aesthetic Appearance in Facial Asymmetry from Parry-Romberg Syndrome: A Case Report

@#<p><strong>OBJECTIVE: </strong>To present a case of progressive hemifacial atrophy in a young woman with Parry-Romberg Syndrome and the role of autologous fat transfer to improve her aesthetic appearance and lessen facial asymmetry.</p><p><strong>METHODS:</strong></p><p><strong>Design:</strong>           Case Report</p><p><strong>Setting:</strong>           Tertiary Government Training Hospital</p><p><strong>Patient:</strong>           One</p><p><strong>RESULTS: </strong>A 20-year old woman consulted because of drooping of the right eyelid and gradual thinning of right cheek muscles since age 16.  On examination, the right facial muscles were hypoplastic with prominent facial bony ridges. An MRI scan showed atrophy of the right medial pterygoid and masseter. She underwent autologous fat transfer on the right side of the face to augment the cheek, improve cosmetic appearance and lessen facial asymmetry.  </p><p><strong>Conclusion: </strong>Our patient is satisfied and happy with the outcome and cosmetic appearance of her autologous fat transfer and is ready to undergo the same procedure if the need arises in the future. Although no definite cure exists for Parry Romberg syndrome, our report illustrates the role of autologous fat transfer as an inexpensive, easily harvested and biocompatible material to improve facial asymmetry. The procedure yielded encouraging results, although long-term benefits remain uncertain.</p><p> </p><p><strong>Keywords:</strong> Parry-Romberg syndrome; progressive hemifacial atrophy; autologous transplantation</p>

Lipofilling no tratamento de casos leves de hemiatrofia facial / Lipofilling for the treatment of mild cases of Facial Hemiatrophy

A hemiatrofia facial ou síndrome de Parry-Romberg é caracterizada por atrofia progressiva dos tecidos da hemiface, acometendo a pele e o subcutâneo. Suas manifestações clínicas são muito variadas. As estratégias terapêuticas de eleição para o tratamento da síndrome ainda não foram completamente estabelecidas. Os autores descrevem um caso de hemiatrofia facial leve, em que o paciente foi submetido a lipofilling (lipoenxertia autóloga), evoluindo com resultado satisfatório. As alternativas de tratamento, suas vantagens e desvantagens, são amplamente discutidas no estudo, sendo que a lipoenxertia autóloga desponta como excelente opção terapêutica, por sua segurança, baixo custo e reprodutibilidade.

Facial hemiatrophy, or Parry-Romberg syndrome, is characterized by the progressive atrophy of the tissues of half of the face, affecting skin and subcutaneous tissue. Its clinical manifestations are very varied. Preferred therapeutic strategies for the treatment of the syndrome were not yet completely established. The authors describe a case of mild facial hemiatrophy, in which the patient underwent lipofilling (autologous fat grafting), progressing with satisfactory result. Treatment alternatives, its advantages and disadvantages are widely discussed in the study, with fat grafting emerging as an excellent therapeutic option due to its safety, low cost and replicability.

Validación de la prueba de Romberg Modificada para la determinación del tiempo de propiocepción inconciente en adultos sanos / Validation of a Modified Romberg's Test to determine normal adult lower limb unconscious proprioception times

Introducción La propiocepción es la capacidad que tiene el cuerpo para detectar el movimiento y la posición articular, lo cual tiene grandes implicaciones en el control neuromuscular. Actualmente no hay una prueba clínica estandarizada que permita determinar objetivamente la normalidad en su evaluación en la población sana con un patrón de marcha maduro. En el año 2012 se diseñó un signo clínico denominado prueba de Romberg modificada, que permite caracterizar los valores propioceptivos de la población normal en los miembros inferiores. Materiales y métodos Estudio de cohorte transversal ciego de 163 pacientes. Se excluyeron pacientes con algún tipo de lesión osteoarticular o neuropatía periférica en los miembros inferiores. Estos individuos se sometieron a la prueba de Romberg modificada, registrando su valor en segundos en el miembro inferior derecho e izquierdo, y comparándolas con la edad, lateralidad y el sexo. Resultados Al estratificar los sujetos evaluados por grupos etarios, se observó una relación inversamente proporcional entre la prueba de Romberg modificada y la edad. La lateralidad y el sexo no presentaron una diferencia significativa (p=0,53).. Discusión La prueba de Romberg modificada, es una prueba útil para la determinación de la propiocepción normal en los adultos, la cual disminuye con la edad sin presentar diferencias con respecto a la lateralidad o el sexo del individuo. Nivel de evidencia IV

Background Proprioception is considered the ability of the body to detect movement and joint position, and has great implications in neuromuscular control. There are currently no standardised clinical tests to objectively determine how much should be considered normal in its evaluation in the healthy population with a mature gait pattern. In 2012, a clinical sign called the modified Romberg test was designed to determine the proprioceptive values in the lower limbs of the normal population. Materials and methods A cross-sectional blind study was conducted on a cohort of patients with no history of osteoarticular injury in the lower limbs and no peripheral neuropathy. The subjects underwent the modified Romberg test, with a record made of its value in seconds in the lower right and left limbs, and comparing them with age, laterality, and gender. Results The study included 163 patients. On stratifying the subjects evaluated according to age groups, a tendency to decrease the modified Romberg test result with increased age was observed. According to the analysis, it can be observed that the proprioception of a limb does not have a significant difference (P=.53) with respect to the contralateral limb (laterality) or gender, but there is with respect to age. Discussion The modified Romberg test result of 20seconds is a useful tool for the determination of normal proprioception in adults. This value decreases with age, without showing differences as regards the laterality or gender of the subject. Evidence Level IV.

Validación de la prueba de Romberg Modificada para la determinación del tiempo de propiocepción inconciente en adultos sanos / Validation of a Modified Romberg's Test to determine normal adult lower limb unconscious proprioception times

Introducción La propiocepción es la capacidad que tiene el cuerpo para detectar el movimiento y la posición articular, lo cual tiene grandes implicaciones en el control neuromuscular. Actualmente no hay una prueba clínica estandarizada que permita determinar objetivamente la normalidad en su evaluación en la población sana con un patrón de marcha maduro. En el año 2012 se diseñó un signo clínico denominado prueba de Romberg modificada, que permite caracterizar los valores propioceptivos de la población normal en los miembros inferiores. Materiales y métodos Estudio de cohorte transversal ciego de 163 pacientes. Se excluyeron pacientes con algún tipo de lesión osteoarticular o neuropatía periférica en los miembros inferiores. Estos individuos se sometieron a la prueba de Romberg modificada, registrando su valor en segundos en el miembro inferior derecho e izquierdo, y comparándolas con la edad, lateralidad y el sexo. Resultados Al estratificar los sujetos evaluados por grupos etarios, se observó una relación inversamente proporcional entre la prueba de Romberg modificada y la edad. La lateralidad y el sexo no presentaron una diferencia significativa (p=0,53).. Discusión La prueba de Romberg modificada, es una prueba útil para la determinación de la propiocepción normal en los adultos, la cual disminuye con la edad sin presentar diferencias con respecto a la lateralidad o el sexo del individuo. Nivel de evidencia IV

Background Proprioception is considered the ability of the body to detect movement and joint position, and has great implications in neuromuscular control. There are currently no standardised clinical tests to objectively determine how much should be considered normal in its evaluation in the healthy population with a mature gait pattern. In 2012, a clinical sign called the modified Romberg test was designed to determine the proprioceptive values in the lower limbs of the normal population. Materials and methods A cross-sectional blind study was conducted on a cohort of patients with no history of osteoarticular injury in the lower limbs and no peripheral neuropathy. The subjects underwent the modified Romberg test, with a record made of its value in seconds in the lower right and left limbs, and comparing them with age, laterality, and gender. Results The study included 163 patients. On stratifying the subjects evaluated according to age groups, a tendency to decrease the modified Romberg test result with increased age was observed. According to the analysis, it can be observed that the proprioception of a limb does not have a significant difference (P=.53) with respect to the contralateral limb (laterality) or gender, but there is with respect to age. Discussion The modified Romberg test result of 20seconds is a useful tool for the determination of normal proprioception in adults. This value decreases with age, without showing differences as regards the laterality or gender of the subject. Evidence Level IV.

Parry-Romberg Syndrome Augmented by Hyaluronic Acid Filler

Parry Romberg Syndrome (PRS), also known as idiopathic progressive hemifacial atrophy, is a rare neurocutaneous disorder characterized by loss of skin and subcutaneous fat of face, muscles, and bones causing unilateral atrophy. Most patients require only soft tissue augmentation although syndrome has varying grades of severity. In the majority of reported cases, it has been treated with surgical flap or autologous fat transplantation. However, these treatments need complicated surgical skills which take a lot of time and cost. Herein we report the first case of PRS augmented by hyaluronic acid (HA) filler in a 42-year-old female patient to suggest that HA filler could be a safe, simple, and even rational economic alternative to surgical treatment.

Forehead reconstruction with a custom-made three-dimensional titanium implant in a Parry-Romberg syndrome patient

Parry-Romberg syndrome is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues usually on only one side of the face. It is usually difficult to restore the facial contour due to skin tightness. In this case report, we report a forehead reconstruction with custom-made three-dimensional (3D) titanium implant of a Parry-Romberg syndrome patient who was treated with multiple fat grafts but had limited effect. A 36-year-old man presented with hemifacial atrophy. The disease progressed from 5 to 16 years old. The patient had alopecia on frontal scalp and received a surgery using tissue expander. The alopecia lesion was covered by expanded scalp flap done 22 years ago. Also, he was treated with fat grafts on depressed forehead 17 years ago. However, it did not work sufficiently, and there was noted depressed forehead. We planned to make 3D titanium implant to cover the depressed area (from the superior orbital rim to the vertex). During the operation, we confirmed that the custom-made 3D implant accurately fit for the depressed area without any dead spaces. Previously depressed forehead and glabella were elevated, and the forehead contour was improved cosmetically. A custom-made 3D titanium implant is widely used for skull reconstruction and bring good results. In our case, the depressed forehead of a Parry-Romberg syndrome patient was improved by a 3D titanium implant.

Treatment of hemifacial spasm in patient with hemifacial atrophy using combination therapy (ultrasound therapy and TENS): a case report

A 19-year-old male patient presented with facial hemi-atrophy with unilateral spasms of the masseter and temporalis muscles. Ultrasound therapy and Transcutaneous Electric Nerve Stimulation therapy, known as combination therapy, were given on alternate days for 2 weeks. At the end of 2 weeks of combination therapy the patient reported a drastic reduction in the number of episodes of muscle spasm. The visual analog scale score for tenderness of the masseter and temporalis was also markedly reduced. No one has previously used combination therapy for the treatment of facial hemi-atrophy with hemi-facial spasms. The encouraging results of the combination therapy has prompted us to document this study.

Parry-Romberg Syndrome Associated with Hypothyroidism

PURPOSE: We report a case of Parry-Romberg syndrome associated with right enophthalmos, hypotropia, up-gaze limitation, en coup the sabre, morphea, and hypothyroidism. CASE SUMMARY: A 41-year-old woman presented with slowly progressive right enophthalmos that started 5 years previous. With a Hertel exophthalmometer, the right eye measured 10 mm, and the left eye 13 mm. Right enophthalmos and atrophy of subcutaneous tissues of right side orbit were observed. Axial scan of computerized tomography shows atrophy of right side orbital subcutaneous tissues without bony abnormality. At primary gaze, 4 prism diopter hypotropia was observed in the right eye. Up-gaze was limited in both eyes. Visual acuity was 1.0 in both eyes. No specific sign was found in her anterior segment. The patient had experienced right side alopecia 20 years prior and had undergone biopsy, which proved morphea. Linear en coup de sabre morphea was found on the right forehead and scalp. Hypothyroidism due to Hashimoto's thyroiditis was diagnosed based on a blood test, which also showed positive antinuclear antibody. Thus, the patient was diagnosed with Parry-Romberg syndrome associated with hypothyroidism. CONCLUSIONS: Clinicians need to consider the rare disease Parry-Romberg syndrome when a patient with ophthalmologic symptoms such as enopthlamos or eye movement disorders is accompanied by dermatologic symptoms such as linear en coup de sabre morphea or alopecia.

Parry-Romberg syndrome in a pediatric patient: a case report / Síndrome de Parry-Romberg en paciente pediátrico: informe de caso

The Parry-Romberg syndrome is a rare degenerative disease of unknown etiology that has dental implications. It is characterized by a progressive hemifacial atrophy that appears in the early stages of life. It causes aesthetic, functional and psychological alterations, and has social implications for the patient. There is no definitive treatment for the Parry-Romberg syndrome. Systemic and immune alterations produce oral and maxillofacial manifestations, which need to be managed by specialized dental professionals. The aim of this paper is to do a literature review of the Parry-Romberg syndrome and describe the oral and clinical characteristics of this condition in a 12-year-old male pediatric patient, who had a history of neurological disorders and facial asymmetry on the left side. Dentists require an adequate knowledge of the clinical and dental characteristics of this syndrome. With early diagnosis and appropriate surgical and orthodontic treatment at an early age, they can improve the quality of life of patients and minimize invasive long-term effects...

El síndrome de Parry-Romberg es una rara enfermedad degenerativa de etiología desconocida con implicaciones odontológicas. Se caracteriza por una atrofia progresiva que aparece a temprana edad, generalmente hemifacial. Tiene alteraciones estéticas, funcionales, psíquicas y sociales, no existiendo un tratamiento definitivo. Las manifestaciones orales y maxilofaciales de este síndrome son parte de una afectación sistémica e inmunológica, lo cual resalta la necesidad de su conocimiento y manejo por parte de los profesionales de la odontología. El objetivo de este reporte es describir las características clínicas y orales del Síndrome de Parry-Romberg en un paciente pediátrico masculino de 12 años de edad con antecedentes neurológicos que presenta una asimetría facial izquierda, presentado en conjunto una revisión bibliográfica de este síndrome. Las características clínicas y dentales de este síndrome como parte de una afectación sistémica requieren de un adecuado conocimiento por parte del profesional dental, el cual con un diagnóstico precoz y un adecuado tratamiento quirúrgico y ortodontico a temprana edad para mejorar la calidad de vida del paciente y minimizar los efectos invasivos a largo plazo...

Caracterização miofuncional orofacial na síndrome de Parry-Romberg / Orofacial myofunctional characterization in Parry-Romberg syndrome

Objetivo Caracterizar os aspectos miofuncionais orofaciais de pacientes acometidos pela síndrome de Parry-Romberg, por meio de protocolos clínicos padronizados e da Eletromiografia de Superfície (EMGs) dos músculos mastigatórios. Métodos A amostra foi composta por quatro pacientes com síndrome de Parry-Romberg e quatro indivíduos normais, separados em Grupo Pesquisa (GP) e Grupo Controle (GC), respectivamente, pareados por gênero e idade. Os grupos foram comparados em relação ao desempenho na avaliação clínica fonoaudiológica - Protocolo de Avaliação Miofuncional Orofacial com Escores Expandido (AMIOFE-E), registro das medidas de antropometria facial e de movimentos mandibulares e na avaliação instrumental - Eletromiografia de Superfície (EMGs) dos músculos mastigatórios. Para todas as comparações, foi utilizado o nível de significância de 5%. Resultados Observou-se diferença significativa entre os grupos nas variáveis postura/posição e escore total do AMIOFE-E. Além disso, a análise das variáveis categóricas do AMIOFE-E indicou diferença significativa entre os grupos para palato - altura e largura - e comportamento da língua na deglutição e função mastigatória. A análise das medidas antropométricas indicou diferença significativa entre os grupos somente para e lateralidade mandibular à direita. Não foram observadas diferenças para os dados eletromiográficos. Conclusão O presente estudo é o primeiro a avaliar o Sistema Miofuncional Orofacial de indivíduos acometidos pela síndrome de Parry-Romberg, por meio de protocolos padronizados. Os resultados indicam que esses indivíduos apresentam alterações, principalmente quanto à mobilidade mandibular e mobilidade de língua, na deglutição e na função de mastigação. .

Purpose To characterize the orofacial miofunctional aspects of patients with Parry-Romberg syndrome, using standardized clinical protocols and Surface Electromyography (sEMG) of the masticatory muscles. Methods Participants were four patients with Parry-Romberg syndrome and four healthy individuals, paired by age and gender, divided in two groups: Study Group (SG) and Control Group (CG), respectively. The groups were compared regarding performance during clinical examination - Orofacial Myofunctional Evaluation with Expanded Scores (OMES-E) and record of facial anthropometric measures and of jaw movements, and during an instrumental evaluation - Surface Electromyography (sEMG) of the masticatory muscles. Results Statistically significant differences between the groups were observed for the following variables: 1) numerical: mandibular lateral movement to the right, OMES-E posture/position and total score, 2) categorical: palate, behavior of the tongue during swallowing and chewing function. At sEMG no statistically significant differences were observed. Conclusion The present study is the first to evaluate the orofacial myofunctional system of individuals with Parry-Romberg syndrome using standardized protocols. Results indicate that these individuals present alterations specially when considering mandibular movements, tongue mobility during swallowing and chewing function. .

Alterações do sistema miofuncional orofacial na síndrome de Parry-Romberg: revisão crítica da literatura / Alterations of the myofunctional orofacial system in the Parry-Romberg syndrome: a critical literature review

INTRODUÇÃO Esta revisão qualitativa da literatura analisou publicações científicas internacionais sobre possíveis alterações miofuncionais orofaciais em pacientes acometidos pela Síndrome de Parry-Romberg, por meio da base de dados PubMed. MÉTODOS: O levantamento realizado limitou-se a seres humanos, de qualquer faixa etária, no idioma inglês, entre os anos 2002 e 2012. As publicações sem acesso completo, repetidas por sobreposição das palavras-chave, revisões de literatura, cartas ao editor e as não relacionadas diretamente ao tema foram excluídas. RESULTADOS: Foram identificados 719 estudos, sendo 21 dentro dos critérios estabelecidos. Com base nos estudos selecionados, pacientes acometidos pela Síndrome de Parry-Romberg podem apresentar alterações dos tecidos mole e duro, tais como atrofia dos músculos esternocleidomastoideo, masseter e pterigoideos; atrofia na região da bochecha e depressão da prega nasolabial; desvio dos lábios e nariz; atrofia unilateral da língua; atrofia do ângulo da boca; reabsorção progressiva do osso da maxila e da mandíbula; atrofia do arco zigomático, do osso frontal e assimetria facial; desenvolvimento atrófico das raízes ou reabsorção patológica dos números de dentes permanentes; redução da mandíbula e erupção atrasada dos dentes superiores e inferiores. CONCLUSÃO: Apesar do crescente interesse pelo diagnóstico e pela descrição sintomatológica de indivíduos com Síndrome de Parry-Romberg, a escassez de publicações que abordem tratamentos funcionais e interdisciplinares é evidente. Verifica-se a necessidade da realização de estudos mais específicos que visem à melhoria da qualidade de vida desses pacientes.

INTRODUCTION This qualitative literature review analyzed international scientific publications on possible orofacial myofunctional alterations in patients with Parry-Romberg syndrome by using PubMed. METHODS: The survey was conducted in English, between 2002 and 2012, and was limited to human beings of any age. Publications without full access, duplicated by overlapping keywords, literature reviews, letters to the editor, and those not directly related to the research topic were excluded. RESULTS: We identified 719 studies, of which 21 were within the established criteria. Based on the selected studies, patients with Parry-Romberg syndrome may show changes in soft and hard tissues such as atrophy of the sternocleidomastoid, masseter, and pterygoid muscles; atrophy in the cheek region and depression of the nasolabial fold; deviation of the lips and nose; unilateral tongue atrophy; atrophy of the mouth angle; progressive resorption of the maxilla and mandible bone; atrophy of the zygomatic arch and frontal bone, and facial asymmetry; atrophic root development or pathological resorption of permanent tooth numbers; and jaw reduction and delayed eruption of the upper and lower teeth. CONCLUSION: Despite the growing interest in the diagnosis and symptomatic description of individuals with Parry-Romberg syndrome, publications that address functional and interdisciplinary treatments are scarce. Therefore, specific studies aimed at improving the quality of life of these patients are needed.

Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia / 소아과

Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the left leg. At 4 years of age, she presented with localized scleroderma over the right parietal region of her scalp; her face gradually became asymmetric as her right cheek atrophied. Brain magnetic resonance imaging revealed hemiatrophy of the face and skull base, and T2-weighted images showed increased signal in the right hemipons and hemicerebellar peduncle. Magnetic resonance angiography findings were unremarkable. She was treated with oral prednisolone, and her recurrent gait ataxia diminished within 2 months of the follow-up period. To the best of our knowledge, this is only the second case of PRS presenting with an abnormal involvement of the ipsilateral hemipons.

Enxerto dermogorduroso para tratamento da atrofia hemifacial progressiva / Dermis-fat Graft for Treatment of the Progressive Hemifacial Atrophy

A atrofia hemifacial progressiva (síndrome de Parry-Romberg) é uma doença rara, de etiologia desconhecida, caracterizada por atrofia facial unilateral, que afeta pele, subcutâneo, músculo e, raramente, estruturas osteocartilaginosas. As deformidades faciais, causadas pela doença, causam transtornos psicológicos e sociais aos pacientes acometidos. O tratamento consiste na correção dessas deformidades por meio da reposição de tecido que foi perdido em função da atrofia. Preenchimento com enxertos dérmico, gorduroso, cartilaginoso ou ósseo, injeção de silicone ou próteses de acrílico são alternativas sugeridas para correção da atrofia facial. O objetivo deste estudo é relatar um caso de atrofia hemifacial progressiva, tratada com enxerto dermogorduroso e demonstrar que essa manobra cirúrgica pode melhorar o aspecto estético da face do paciente com base na discussão dos aspectos terapêuticos dessa desordem... (AU)

The progressive hemifacial atrophy (Parry-Romberg syndrome) is a rare disease of unknown etiology characterized by unilateral facial atrophy that affects skin, subcutaneous tissue, muscle, and rarely osteocartilaginous structures. Facial deformities caused by the disease cause social and psychological problems to affected patients. Treatment consists of correction of these deformities by replacing tissue that has been lost due to atrophy. Fill with grafts of dermal, fat, cartilage or bone, injection of silicone or acrylic prostheses are alternatives suggested to correct the facial atrophy. The aim of this study is to report a case of progressive hemifacial atrophy treated with dermis-fat graft and demonstrate that this surgical procedure may improve the aesthetic appearance of the patient's face and discuss the therapeutic aspects of this disorder... (AU)

Abordagem terapêutica da síndrome de parry-romberg baseada em um sistema de classificação de gravidade / Therapeutic Approach To The Parry-Romberg Syndrome Based On A Severity Grading System

Introdução: Síndrome de Parry-Romberg (SPR) é caracterizada pela atrofia hemifacial progressiva que, muitas vezes, resulta em graves distúrbios estéticos e funcionais. Embora existam escalas de gravidade, nenhuma delas é completamente ideal para auxiliar na abordagem terapêutica destes pacientes. O objetivo deste estudo foi delinear as estratégias cirúrgicas para o tratamento da SPR baseado em um novo sistema de classificação de gravidade da doença. Método: Trata-se de uma análise retrospectiva dos pacientes com SPR operados em 2005-2011. As abordagens cirúrgicas foram individualizadas de acordo com a escala de gravidade clínica baseada na evolução da doença: tipos I (envolvimento da epiderme, derme e tecido subcutâneo); II (tipo I + envolvimento muscular); e III (tipo I + II + envolvimento ósseo). Quatro (28,57%) pacientes com SPR tipo I, 6 (42,85%) tipo II e 4 (28,57%) tipo III foram incluídos. Resultado: Um total de 47 procedimentos foi realizado. Gordura livre foi enxertada em todos os pacientes. Todos os pacientes do tipo II e 1 (25%) do tipo III foram submetidos a enxertos dermogordurosos. Enxertos ósseos com retalhos de fáscia têmporo-parietal foram aplicados no tratamento de todos os pacientes do tipo III. Um (25%) paciente do tipo III foi submetido à cirurgia ortognática. Houve melhora global na aparência facial em todos os pacientes, sem complicações relacionadas aos procedimentos. Conclusão: O sistema de classificação de gravidade proposto para a SPR pode facilitar a decisão terapêutica e resultados parcialmente satisfatórios podem ser alcançados com a combinação de técnicas cirúrgicas de acordo com a gravidade da doença.

Introduction: The Parry-Romberg Syndrome (PRS) is characterized by progressive hemifacial atrophy that often leads to severe esthetic and functional difficulties. Although there are systems for grading disease severity, none have proven ideal in optimizing the therapeutic approach to these patients. This study aimed to establish the surgical strategies for the treatment of PRS based on a new system for severity grading of the disease. Methods: This retrospective study included PRS patients undergoing surgery between 2005 and 2011. The surgical strategies were adapted for each patient according to a clinical severity grading system based on disease progression: type I, affecting the epidermis, dermis, and subcutaneous tissue; type II, type I + muscle involvement; and type III, Types I+ II + bone involvement. The sample included four patients (28.57%) with PRS type I, six patients (42.85%) with PRS type II, and four patients (28.57%) with PRS type III. Results: Forty-seven procedures were performed. Free-fat grafts were used in all patients. Dermal fat grafts were used in all type II patients and one type III patient (25%). Bone grafts with temporoparietal fascia flaps were performed for the treatment of all type III patients. One type III patient (25%) underwent orthognathic surgery. All patients were improved in their overall facial appearance and there were no procedure-related complications. Conclusion: Our proposed system for grading PRS severity can facilitate the choice of therapeutic approaches and with a combination of surgical techniques based on the severity of the disease partially satisfactory outcomes can be attained.

Presentación atípica de morfea tipo malformación vascular símil con síndrome Parry-Romberg secundario / Atypical presentation of vascular malformation morphea simile Parry-Romberg syndrome secondary

La Morfea es una forma de presentación clínica de la esclerodermia localizada, que generalmente se manifiesta como una placa eritematosa con un anillo lila que evoluciona a placa atrófica. Existen presentaciones atípicas de morfea en que al inicio la piel afectada simula ser una malformación vascular tipo nevus flameus o mancha en vino de oporto. El Síndrome Parry-Romberg corresponde a una morfea localizada que se caracteriza por hemiatrofia facial que afecta la funcionalidad de la cara y que puede comprometer piel, tejido muscular y hueso. El objetivo de este artículo es presentar, por medio de un caso clínico, una entidad rara de morfea que al inicio simula ser un nevusflameus. El nevus flameus adquirido es raro y requiere tiempo para que se inicien los cambios escleróticos. Se presenta el caso de un niño de 8 años que consultó por un cuadro atípico sospechoso de nevus flameus y que al cabo de 3 años evolucionó como una hemiatrofia facial progresiva. Los pacientes con diagnóstico de nevus flameus adquirido deberían monitorizarse en busca de signos de evolución a morfea y si la ubicación es en la cara siempre debe sospecharse un Síndrome Parry-Romberg para el inicio temprano de terapia y disminuir las consecuencias asociadas.

Morphea is a clinical presentation of the localized scleroderma, which usually manifests as an erythematous plaque with a purple halo that evolves to an atrophic plaque. There are atypical presentations of the morphea that, at the beginning, the affected skin simulates being a vascular malformation port wine stain simil. The Parry-Romberg Syndrome corresponds to a localized morphea that characterizes for showing a facial hemiatrophy that affects the facial functionality and may compromise the skin, muscular tissue and bones. The objective of this paper is to present, through a clinical case, a rare entity of the morphea that at the beginning simulates being a port wine stain. The acquired port wine stain is rare and requires some time to show sclerotic changes. A clinical case of an 8 years old patient that consulted for a suspicion of an atypical clinical picture of port wine stain and that after 3 years evolved in a progressive facial hemiatrophy is presented. The patients with an acquired port wine stain diagnosis should be monitored to find signs of an evolution to morphea and if it is located on the face there should always be a suspicion of a Parry Romberg syndrome in order to start earlier the therapy and reduce the associated consequences.

Hemiatrofia facial progresiva y morfea en golpe de sable: ¿entidades diferentes o un espectro de la misma enfermedad? / Progressive facial hemiatrophy and morphea en coup de sabre: different entities or a spectrum of the same disease?

La hemiatrofia facial progresiva (HFP) o síndrome de Parry-Romberg se caracteriza por lapresencia de lesiones atróficas que comprometen unilateralmente la piel de la cara. Lamorfea en golpe de sable (MGS) es un subtipo de esclerodermia localizada de disposición lineal en cara o cuero cabelludo. Ambas comparten múltiples características, por lo que diferenciarlas suele ser un gran desafío. Existen controversias acerca de si son procesosindependientes o un espectro de una misma enfermedad. Objetivos. Describir las características clínicas, hallazgos histológicos y de laboratorio delos pacientes con diagnóstico de HFP, MGS o ambas entidades evaluados en nuestro servicio. Comparar ambas patologías y revisar la bibliografía publicada para intentar esclarecersi son entidades independientes o un espectro de la misma enfermedad.Material y métodos. Se realizó un estudio retrospectivo y descriptivo. Se incluyerontodos los pacientes con diagnóstico de HFP, MGS o ambas entidades evaluados desde enero de 2002 hasta julio de 2014. Resultados.Se encontraron 83 pacientes con esclerodermia localizada. Se seleccionaron 12 pacientes: 4 con MGS, 4 con HFP y 4 con ambas entidades. Se observó la coexistenciacon morfea en área extracefálica en un 25%, sin predominio por ningún grupo. En relación con las manifestaciones extracutáneas, el 41,66% presentó alteraciones oftalmológicas y/o otorrinolaringológicas, principalmente en el grupo con HFP o ambas patologías.Ningún paciente presentó alteraciones neurológicas. Sólo 2 pacientes, una con diagnóstico de HFP y otra con HFP + MGS, presentaron FAN reactivo. Todos los pacientes presentaron estudio histopatológico compatible. Se pudieron revisar 6/12 biopsias cutáneas. Los principales hallazgos histopatológicos independientemente del diagnóstico clínico fueron: esclerosis con hialinización del colágeno e infiltrado inflamatorio mononuclear. Conclusion. Los hallazgos del presente estudio respecto de la clínica, la histología...

Implantation of autologous fat globules in localized scleroderma and idiopathic lipoatrophy - report of five patients / Implante de fragmentos de lobulos de gordura autologa na esclerodermia localizada e lipoatrofia idiopatica, relato de cinco pacientes

A large number of diseases may cause Atrophic skin disorders are caused by a large number of diseases, some of them idiopathic and others inflammatory, in which there is loss of volume of body segments. Localized scleroderma is a rare inflammatory dermatosis, manifested by atrophic skin and subcutaneous tissue alterations. Lipoatrophy may be genetically inherited or acquired as a result of panniculitis, HIV infections or aging. Many treatments have been proposed. Results vary in the acute inflammatory phase and are scarce when sclerosis and atrophy have already been established. This article describes four cases of localized facial scleroderma and one of facial idiopathic lipoatrophy treated with implantation of autologous fat globules extracted from the infragluteal groove, without utilization of cannula aspiration, with lasting results.

Os distúrbios atróficos da pele abrangem inúmeras doenças, algumas idiopáticas e outras, inflamatórias, em que há perda do volume de segmentos do corpo. A esclerodermia localizada é uma dermatose inflamatória, rara, que pode manifestar-se com alterações atróficas da pele e tecido subcutâneo. A lipoatrofia pode ser herdada geneticamente ou adquirida relacionada a paniculites, infeccção pelo HIV, ou envelhecimento. Muitos tratamentos são propostos. Os resultados são variáveis na fase inflamatória aguda e apresentam pouca resposta quando a esclerose e atrofia já estão instaladas. Descreve-se o tratamento de quatro casos de esclerodermia localizada e um de lipoatrofia idiopática, na face, tratados com enxerto de fragmentos de lóbulos de gordura autóloga extraídos sem a utilização da cânula aspirativa, com resultados duradouros.

Atrofia hemifacial progresiva o Síndrome Parry Romberg asociado a inmunodeficiencia / Progressive Hemifacial Atrophy or Parry Romberg Syndrome associated with immunodeficiency

La Atrofia Hemifacial Progresiva (AHP) o Síndrome Parry Romberg, es una enfermedad degenerativa rara, caracterizada por una lenta y progresiva atrofia facial unilateral que afecta al tejido celular subcutáneo, cartílago, tejido graso y estructuras óseas subyacentes, que frecuentemente se solapa con una condición conocida como esclerodermia lineal en corte de sable. Hasta donde se conoce no se ha reportado en la literatura la asociación de este síndrome a algún tipo de inmunodeficiencia. Se presenta el caso de un niño de 5 años con AHP, con historia de procesos infecciosos recurrentes, algunos graves, desde que tenía 7 meses de nacido. En el estudio inmunológico se observó la presencia de anticuerpos antinucleares con patrón homogéneo y de anticuerpos anti-DNA de doble cadena. La cuantificación de las subpoblaciones linfocitarias mostró una disminución de los valores de células T/CD3+ y T/CD4+, con valor normal de células B/CD19+. Se diagnosticó una inmunodeficiencia de células T. El hallazgo de una inmunodeficiencia celular en un paciente con AHP es expresión de la gran variabilidad clínica de esta enfermedad y de la importancia que tiene su diagnóstico temprano

The progressive hemifacial atrophy (AHP) or Parry Romberg syndrome, is a rare degenerative disease, characterized by slowly progressive unilateral facial atrophy involving the subcutaneous tissue, cartilage, fat tissue and underlying bone structures, which often overlaps with a condition known as linear scleroderma en coup of sabre. To our knowledge has not been reported the association between immunodeficiency and this syndrome. We report the case of a child of 5 years with AHP, with a history of recurrent infectious processes, some serious, since he was 7 months old. The immunological study showed T cell immunodeficiency, lymphocyte subpopulations showed T/CD4 T/CD3 + cells values decreased and normal value B/CD19 + cells. The presence of antinuclear homogeneous pattern and anti-dsDNA antibodies confirm de autoimmune disorders described in these patients. The cellular immunodeficiency with AHP is an expression of great clinical variability of this disease and the importance of early diagnosis