Discondrosteosis de Léri-Weill. Presentación de una familia afectada / Léri-Weill dyschondrosteosis. Presentation of an affected family

RESUMEN Fundamentación: La discondrosteosis de Léri-Weill, displasia ósea de origen genético que afecta la región mesomélica con acortamiento de las extremidades, provoca talla baja con extremidades cortas con deformidad de Madelung; esta enfermedad muestra un patrón de herencia autosómico dominante con alta penetrancia. Objetivo: Describir las deformidades de esta discondrosteosis de baja frecuencia con expresividad variable, que se presentó de la misma forma en todos los afectados de esta familia. Presentación de caso: Se reportó una familia con enfermos en tres generaciones con deformidad de Madelung de ambas muñecas y baja estatura de origen mesomélico, que se mantiene seguimiento en consultas de Genética Clínica y Ortopedia. Conclusiones: El examen físico y radiológico imprescindibles para llegar al diagnóstico clínico. El método clínico y la valoración multidisciplinaria resultaron de gran valor para definir esta enfermedad y poder brindar un adecuado asesoramiento genético a esta familia.

ABSTRACT Background: Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance. Objective: To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family. Case presentation: A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics. Conclusion: The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Deformidad de Madelung: presentación de un caso / Madelung deformity: a case presentation

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas. Se vincula a mutaciones del gen SHOX y se caracteriza por alteraciones en el radio, carpo y cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino y aparece al inicio de la adolescencia. Se presenta una paciente de 15 años de edad, con antecedentes de problemas de salud. Al entrar en la adolescencia comenzó a presentar deformidad en ambas muñecas, más marcada en el lado derecho acompañado de dolor. El diagnóstico de deformidad de Madelung se concluyó mediante la clínica asociado a la positividad de los estudios imagenológicos, basados en los criterios radiográficos de Dannenberg y otros. Se decidió tratamiento quirúrgico, mediante osteotomía doble correctora para longitud y fijación externa de la mano derecha, con la resolución completa de la deformidad y seguimiento en la Consulta Externa de Ortopedia(AU)

Madelung's deformity is a rare alteration of the wrist joint. It is linked to mutations of the SHOX gene. It is characterized by alterations in the radius, carpus and ulna, predominantly bilateral. It mainly affects female patients; signs and symptoms are evident at the beginning of adolescence. To present a case of a patient with a diagnosis of Madelung deformity. The case of a 15-year-old female patient with a health history and family history of interest of an equine clubfoot father is presented. When she entered adolescence, she began to present deformity in both wrists, more marked in the right side accompanied by pain. This is a patient with a Madelung deformity. The diagnosis was concluded by the clinic associated with the positivity of the imaging studies(AU)

Madelung disease (multiple symmetric lipomatosis)

Madelung disease or multiple symmetric lipomatosis (MSL) is a rare entity among the overgrowth syndromes. It is characterized by painless non-encapsulated and symmetric fatty deposits in the neck, torso, mammary, and abdominal areas, and in the upper and lower limbs. The etiology of the disease is still unknown. Chronic alcohol consumption may play a role in adipocyte hyperplasia in genetically susceptible individuals. Besides the overgrowth of adipose tissue, patients with MSL present features of metabolic syndrome. Patients seek medical attention usually for esthetic reasons. We present the case of a middle-aged man who sought the outpatient clinic complaining of bulging masses in the posterior upper part of the thorax, the occipital area, and the neck. The masses grew over a period of 2 years. The physical examination and imaging study revealed the presence of symmetric lipomatosis. A two-step surgical treatment was undertaken for the excision of the lipomatous tissue. The postoperative outcome was uneventful with satisfactory esthetic results.

Deformidad de Madelung: presentación de un caso / Madelung deformity: case report

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas, con una prevalencia desconocida por los pocos casos reportados hasta la actualidad. Se vincula a mutaciones del gen SHOX. Se caracteriza por presentar alteraciones en el radio, el carpo y el cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino; los signos y síntomas se revelan al inicio de la adolescencia. Presentamos el caso clínico de una paciente de sexo femenino de 17 años que registra las manifestaciones clínicas y radiográficas características. (AU)

Madelung deformity is a rare alteration of the wrist joint of unknown prevalence due to the few cases reported. It has been linked to SHOX gene mutations. Madelung deformity is characterized by alterations of the radius, carpus and ulna, predominantly bilateral and mainly seen in female patients at the beginning of the adolescence. We report the clinical case of a 17-yearold female patient presenting the characteristic clinical and radiographic deformities. (AU)

Two Cases of Multiple Symmetric Lipomatosis in Women with Alcoholism / 대한피부과학회지

Madelung's disease, also known as multiple symmetric lipomatosis (MSL) is a rare disease characterized by the presence of multiple, symmetric, loose adipose tissues distributed around the neck, shoulder, back or chest. MSL is different from simple obesity, which is characterized by the presence of well-distributed total body fat. It is rarely reported in Asia and most commonly seen among middle-aged men. Although the etiology of MSL is unknown, the disease is associated with alcoholism in 60% to 90% of patients. The diagnosis is usually made on the basis of the history, and clinical appearance. Also, imaging such as CT or MRI could confirm the diagnosis. Herein, we experienced an uncommon case of MSL in middle-aged women with alcoholism.

Cas rare de lipomatose généralisée (maladie de Launois-Bensaude) chez un sujet noir africain

La maladie de Launois-Bensaude (ou syndrome de Madelung) considérée comme rare est définie par l'accumulation de graisse sous-cutanée non-encapsulée surtout sur la partie supérieure du tronc et la racine des membres. Nous rapportons le premier cas rare de syndrome de Madelung décrit chez un patient noir africain. Il s'est agi d'un patient de 55 ans, éthylique chronique reçu pour tuméfaction sous-cutanées multiples, symétriques, généralisées. L'aspect dysmorphique du patient était frappant. Les principales localisations de ces tuméfactions étaient : cervicale, thoracique, abdominale, brachiale, crurale. Il y avait une adipomastie bilatérale. Une hyperuricémie a été retrouvée. Le scanner TAP montrait des masses lipomateuses diffuses et une stéatose hépatique. La résection chirurgicale ou la liposuccion peuvent être d'un intérêt thérapeutique associées aux mesures hygiéno-diététiques

Relato de caso: doença de Madelung / Case report: Madelung's disease

A síndrome de Madelung ou também conhecida por lipomatose simétrica múltipla (LSM) é uma lipodistrofia benigna rara que se caracteriza por múltiplas massas adiposas não encapsuladas. Ainda de etiologia desconhecida, existe a suspeita de uma possível herança autossômica dominante. Está fortemente associada ao abuso de álcool (60-90% dos casos). Apresenta curso clínico variável, de crescimento rápido com posterior estabilização ou progressão lenta. Pode ser assintomática ou causar sintomas de compressão de estruturas mediastinais e do trato aerodigestivo. O tratamento de escolha é cirúrgico (AU)

Madelung syndrome, also known as multiple symmetric lipomatosis (MSL), is a rare benign lipodystrophy that is characterized by multiple non-encapsulated adipose masses. Although of unknown etiology, there is a suspected autosomal dominant inheritance. It is strongly associated with alcohol abuse (60-90% of cases). It presents a variable clinical course, of fast growth with later stabilization or slow progression. It may be asymptomatic or cause symptoms of compression of mediastinal structures and aerodigestive tract. The treatment of choice is surgical (AU)

Do you know this syndrome? Type 2 benign symmetric lipomatosis (Launois-Bensaude)

Abstract A 57-year-old female showed bulky, loose tumors, which progressively spread to her arms, anterior chest, and back. She reported dysphagia and dyspnea after mild exertion. She denied alcohol consumption. CT scan of her chest showed no internal lesions. Benign symmetric lipomatosis is a rare syndrome, clinically described as multiple nonencapsulated lipomas of various sizes and symmetrical distribution. This syndrome has three known phenotypes; in type 2 (Launois-Bensaude syndrome), lesions occur primarily on the shoulders, upper arms, and chest, and is unrelated to alcoholism. It causes aesthetic deformities and might block the upper airways. Mediastinal invasion might occur as well.

Lipoma gigante do coxim adiposo bucal: relato de caso e revisão da literatura / Giant lipoma of the buccal fat pad: case report and literature review

INTRODUÇÃO: Lipomas são os tumores benignos mesenquimais mais comuns. Entretanto, são pouco frequentes na face, principalmente o tipo considerado gigante, derivado do coxim adiposo bucal. A literatura é escassa e provavelmente a sua incidência é subestimada. MÉTODO: Relato do caso de tratamento cirúrgico de lipoma gigante bucal e temporal recidivado, e revisão da literatura no Pubmed na língua inglesa e na Revista Brasileira de Cirurgia Plástica. RESULTADOS: O tumor, anatômica e morfologicamente, corresponde ao coxim adiposo bucal, foi totalmente retirado pelo acesso facial e temporal, sem sequelas ao nervo facial. Foram encontrados 31 casos relatados de lipoma de origem do coxim adiposo bucal, entretanto, vários casos foram encontrados e relatados sob outras denominações. DISCUSSÃO: O coxim adiposo bucal é maior e mais complexo que se conhecia, e várias patologias se derivam deste, sendo importante o diagnóstico diferencial do lipoma simples com o de células fusiformes e com o lipossarcoma, devido a sua extrema semelhança. CONCLUSÃO:Nas lesões lipomatosas da face, a possível origem no coxim adiposo bucal deve ser considerada. Um estudo amplo dessas lesões com a finalidade de uniformizar a terminologia e de determinar a sua real incidência deve ser realizado.

INTRODUCTION: Lipomas are the most common benign mesenchymal tumors. Nevertheless, they are infrequent in the face, particularly giant lipomas, which are derived from the buccal fat pad. The literature regarding these tumors is scarce and their incidence is likely underestimated. METHODS: We present a case report of surgical treatment of a relapsed giant buccal and temporal lipoma and review the related English literature in Pubmed and that in the Brazilian Journal of Plastic Surgery. RESULTS: The tumor, which anatomically and morphologically corresponded to the buccal fat pad, was completely excised by facial and temporal access without sequelae to the facial nerve. A total of 31 reported cases of lipoma originating from the buccal fat pad were found; however, several were found and reported under other names. DISCUSSION: The buccal fat pad is larger and more complex than assumed, and several pathologies are derived thereof, making the differential diagnosis of simple lipoma with fusiform cell lipoma and liposarcoma difficult due to their extreme similarities. CONCLUSION: In lipomatous lesions of the face, the possible origin in the buccal fat pad must be considered. An extensive study of these lesions with the purpose of standardizing the terminology and determining its real incidence must be performed.

Caso original de lipo-hipertrofia simétrica: relato de caso e revisão de literatura / An original case of symmetric lipohypertrophy: case report and review of the literature

Paciente do sexo feminino, saudável, meia-idade e com história prolongada de massas com crescimento lento localizadas bilateralmente e simetricamente nos membros superiores e inferiores, próximas às principais articulações. Exames de imagem e patológicos após excisão das massas revelaram massas constituídas por gordura subcutânea normal. Não houve evidências de lipomas bem-circunscritos. Na revisão de literatura, destacaram-se diversos distúrbios lipo-hipertróficos, com possível apresentação simétrica. As características das afecções encontradas não eram, porém, totalmente concordantes com as características de nossa paciente. Embora não de modo absoluto, a doença que mais estreitamente se assemelhou ao caso foi lipodistrofia simétrica rara, conhecida como doença de Madelung. Dos 150 casos relatados, em apenas 3 foi descrito comprometimento dos membros inferiores, como ocorreu em nosso caso. Este relato apresenta descrição detalhada do caso, seu manejo e seguimento no pós-operatório. Os tipos distintos de lipodistrofias simétricas também são discutidos.

A middle-aged healthy woman who presented with longstanding history of slow growing masses located bilaterally and symmetrically on the upper and lower extremities closed to major joints. Imaging and pathology tests following excision of masses revealed normal subcutaneous fat. There was no evidence of well-circumscribed lipomas. A review of the literature identified a number of lipohypertrophic disorders, which may be present in a symmetrical fashion. The characteristics of the disorders, however, did not fully agree with characteristics observed in our patient. Although not absolute, the closest disease found to fit our case is a rare symmetrical lipodystrophy known as Madelung's disease. Of 150 reported cases, only 3 described involvement of lower extremities as seen in our case. We report a detailed description of a case, its management and post-operative follow-up. Different types of symmetrical lipodytrophies are also discussed.

Giant benign symmetric lipomatosis of the neck: four case reports / 华西口腔医学杂志

Benign symmetric lipomatosis is a rare disease and may appear as a huge tumor in the neck. Four benign symmetric lipomatosis associated with gigantic painless mass or neck motion limitation were reported. Operative technique of one-time radical resection or stage resection was used to remove these tumors. One patient had a postoperative complication of incision effusion and infection, and three patients had no significant complication. At more than one-year follow-up, the motion and appearance of a patient's neck returned to normal, and no recurrence was observed. The etiology, clinical manifestations, diagnosis, and treatment of the disease were discussed.

Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy

No abstract available.

Benign symmetric lipomatosis (Madelung's disease): four cases report / 临床耳鼻咽喉头颈外科杂志

Benign symmetrical lipomatosis (BSL), or Madelung's disease, is a rare disease characterized by he progressive growth of diffuse, painless, non-enveloped symmetric lipomas at typical sites in the body. The etiology of this disease remains unknown. A disturbance of lipid metabolism is involved, and there is a proven connection with chronic alcoholism. Problems with the differential diagnosis of the characteristic clinical picture arise from the fact that this disease is not widely recognized. Surgical lipectomy in several sessions can relieve pressure and provide satisfactory patient functional recovery as well as cosmetic disfiguration.

Imaging Features of Madelung's Disease: Case Report

Madelung's disease, or benign symmetric lipomatosis, is an uncommon disorder that is characterized by massive symmetrical deposits of adipose tissue in the upper trunk, neck and head, and is usually associated with alcohol abuse; as such, patients usually complain of cosmetic issues. Historically, Madelung's disease is usually encountered in men between 30 and 60 years of age, and is more prevalent in the Mediterranean population. In this case study, we describe a rare case of Madelung's disease, in an Asian patient who presented with symmetrically located bilateral masses in the anterior neck, which grew progressively larger over a period of seven years.

Deformidad de Madelung, a propósito de una serie de casos / Déformation de Madelung, à propos d'une série / Madelung's deformity, apropos of a case series

Introducción: la deformidad de Madelung es consecuencia de una alteración de crecimiento de la fisis distal del radio. Puede ocasionar dolor y pérdida de la función. Objetivos: revisar el estado actual de la enfermedad y conocer los resultados de una serie de pacientes, que han recibido tratamiento quirúrgico. Métodos: se trata de una serie de casos de pacientes (12 pacientes) recopilados entre los años 2005-2012, que fueron tratados en la consulta de cirugía de mano (entre 2005 y 2012). Los procedimientos quirúrgicos usados fueron osteotomía de radio con placa o con tutor, osteotomía de cúbito (de acortamiento y corrección angular) y resección distal del cúbito (Darrach). Se estudiaron variables de movilidad, radiología y satisfacción de la cirugía. Se analizaron los datos radiológicos de inclinación cubital y de inclinación del semilunar, además, de un análisis cualitativo de la corrección del cúbito. Resultados: en los 8 pacientes operados (11 muñecas: 9 corrección de la angulación del radio mediante osteotomías, y 2 con tutor), los resultados estéticos fueron buenos. En cuanto a la función, todos los parámetros de movilidad mejoraron. En las 7 muñecas en las que se realizó Darrach, mejoró el aspecto dorsal de la muñeca. Luego de poco tiempo no se observó traslación cubital del carpo. El aspecto radiológico mejoró notablemente: la inclinación cubital del radio cambió de 37º prequirúrgico a 28º posquirúrgico, y el ángulo de fosa del semilunar de 55º a 36º, respectivamente. Conclusiones: lo reducido de la serie y el poco tiempo de seguimiento constituye una limitación de este estudio, aunque se muestra que con la combinación oportuna de algunas técnicas de cirugía, se pueden lograr mejorías estéticas y funcionales en la deformidad de Madelung(AU)

Introduction: Madelung deformity is due to a growth disturbance of distal radius physis. It can cause pain and loss of function. Objectives: to review the current status of this disease and the results of a series of patients who received surgical treatment. Methods: this is a case series of patients (12 patients) collected from 2005 to 2012, which were treated in hand surgery consultation. Radio osteotomy plate or guardian ulna osteotomy (shortening and angular correction) and distal resection of the ulna (Darrach) were the surgical procedures used. Mobility variables, radiology, and surgery satisfaction were studied. Ulnar inclination and the lunate tilt radiological data were analyzed; also a qualitative analysis of the correction of the ulna was conducted. Results: in the 8 patients operated (11 wrists: 9 angle correction by osteotomy of the radius, and 2 with tutor), the aesthetic results were good. In terms of function, all mobility parameters improved. In the 7 cases of wrist where Darrach was performed, the dorsal aspect of the wrist improved. After a short time, no ulnar translation of the carpus was observed. The radiographic appearance markedly improved: the ulnar inclination changed from preoperative 37º to postoperative 28º and the lunate fossa angle changed from 55° to 36°, respectively. Conclusions: the smallness of the series and the short follow-up time is a limitation of this study, although it is shown that with the right combination of some surgical techniques aesthetic and functional improvements in Madelung deformity can be achieved(AU)

Introduction: la déformation de Madelung est due à une altération de la croissance distale du radius. Elle peut provoquer une douleur et une perte de la fonction. Objectifs: le but de cette étude est de réviser l'état actuel de la maladie et de connaître les résultats d'une série de patients ayant subi un traitement chirurgical. Méthodes: il s'agit d'une série de 12 patients traités entre 2005 et 2012 au Service de chirurgie de main. Les gestes chirurgicaux utilisés ont compris l'ostéotomie du radius par plaque ou par tuteur, l'ostéotomie de cubitus (raccourcissement et correction angulaire), et la résection distale du cubitus (Darrach). Des variables de mobilité, de radiologie et de satisfaction de la chirurgie ont été examinées. Les données radiologiques de la pente du cubitus et de la pente du semi-lunaire, ainsi qu'une analyse qualitative de la correction du cubitus, ont été évaluées. Résultats: on a réussi des résultats esthétiques très bons chez les 8 patients opérés (11 poignets: 9 corrections de l'angulation du radius par ostéotomie, et 2 corrections par tuteur. Tous les paramètres de mobilité par rapport au plan fonctionnel sont améliorés. L'image dorsale des 7 poignets opérés par la technique de Darrach est améliorée. Puis à près, la translation cubitale du carpe a disparu. L'image radiologique est remarquablement améliorée ; il y a eu un changement pré- et postopératoire de la pente cubitale du radius respectivement de 37° à 28°, et de l'angle de la fossette du semi-lunaire respectivement de 55° à 36°. Conclusions: quoique la faiblesse du nombre de la série et du temps du suivi ait limité cette étude, on a démontré que la combinaison de quelques techniques chirurgicales peut aboutir à l'amélioration esthétique et fonctionnelle de la déformation de Madelung(AU)

Syndrome in Question

A 48-year-old male patient with chronic alcoholism presented with a soft, bulky, asymptomatic, and slow-growing mass in the posterior region of the neck, as well as nodules in the deltoid region and posterior triangle of the sternocleidomastoid muscle. Needle aspiration confirmed the diagnosis of lipoma. Multiple symmetric lipomatosis (Madelung's disease) is a rare proliferation of adipocytes, of unknown etiology, most common in middle-aged men and mainly associated with alcoholism. It predominantly affects the neck and upper trunk, causing compressive symptoms or a imparting a pseudoathletic appearance. Surgical resection or liposuction is the most effective treatment, despite frequent recurrence.

Multiple Symmetric Lipomatosis (Madelung's Disease) of the Neck and Pharynx / 대한이비인후과학회지

Multiple symmetric lipomatosis (Madelung's disease) is an infrequent disease of unknown etiology. The typical characteristic of the disease is bulging, symmetric masses of fat tissue on the neck, upper extremities, and upper parts of the trunk. The disease strongly affects middle-aged men, people from Mediterranean regions and with alcohol abuse history. We report three cases of middle to old age males with long-standing multi-lobulated bulging of the neck, which gradually enlarged over many years. Of peculiar interest is one patient who presented with snoring and apnea together with typical findings of Madelung's disease. The case had involvement of the hypopharynx, which was successfully managed with microscopic laryngeal surgery with CO2 laser. The authors elucidate three cases of Madelung's disease found in the pharynx and neck, and report a review of the literature.

Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia / 한국유방암학회지

Multiple symmetric lipomatosis (MSL), or Madelung's disease, is a rare disease of unknown etiology. It is characterized by the presence of loose adipose tissue deposits localized in the cervical region and upper body. MSL presenting as bilateral huge gynecomastia is an extremely rare phenomenon. The present report describes a case of MSL in a 66-year-old man. The patients presented with bilateral breast bulging. He had a history of cigarette and alcohol use. His condition was treated with a bilateral nipple-sparing mastectomy. MSL can present as a form of gynecomastia, for its accurate diagnosis and proper treatment of MSL, increasing awareness of the clinical characteristics of the disease is required, especially amongst breast surgeons. Herein, we review the literature and discuss the clinical characteristics, pathology, and surgical treatment of MSL.

Fast-growing multiple symmetric lipomatosis / 영남의대학술지

Multiple symmetric lipomatosis (MSL) is a rare disease characterized by symmetrical massive fatty deposits on the face, neck, shoulders, and upper trunk. We report a 74-year-old man who complained of painless subcutaneous nodules on his posterior neck that developed 3 weeks earlier. In a week, variably-sized similar lesions developed on both his shoulders and upper extremities. At the time of his hospital visit, several firm nodules as big as a walnut to a child's fist and with the normal-skin-hue were observed on his posterior neck, both shoulders, upper extremities, and trunk. The histological examination of his upper left arm revealed more mature adipocytes without encapsulation in the subcutaneous tissue. MSL was generally known to occur slowly over months or years. However, this is an unusual case that showed a fast-growing nature.