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.

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.

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.

Diagnosis and surgical treatment of Madelung's disease / 中国耳鼻咽喉头颈外科

OBJECTIVE To discuss t he diagnosis and surgical methods of the Madelung's disease. METHODS Detailed clinical data of 6 patients with Madelung's disease who was received surgical treatment in our department from January 2011 to November 2015 were reviewed. RESULTS All patients were male, aged from 35 to 65 years. The 6 patients had excessive subcutaneous fat deposit predominantly around the neck. One of the 6 patients had excessive fat deposit in larynx. All patients had history of heavy drinking. Two patients had the complication of cardiac disease, pulmonary disease and cerebral disease. One patient had the complication of glucose intolerance. Five patients were associated with sleep apnea syndrome. One patient came to hospital with dyspnea in emergency. All patients had received surgical treatment and abstinence from alcohol, 4 patients had the total neck lipectomy and tracheotomy. One patient had the total neck lipectomy with no tracheotomy. One patient had received emergency surgery-partial neck lipectomy and tracheotomy because the patient came to hospital with dyspnea in emergency. This case was referred to respiratory department without a second surgery for his severe complications and high surgical risk. This case discharged with tracheal tube. No obvious recurrence was seen during a follow-up of 15 days to 48 months. The pathological results were nonencapsulated fat. CONCLUSION Madelung's disease is a kind of benign disease arised from lipodystrophy which characterized by massive accumulation of nonencapsulated subcutaneous fat mainly located symmetrically in the fascial space of neck and shoulder. Most patients had heavy drinking history, chronic alcoholism may be a major risk factor. It may be associated with some complications. Total neck lipectomy has good effect. The aim of the operation is to improve outline appearance and function of the neck, which is good for patient's quality of life.

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) 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.

Lipomatose simétrica múltipla / Multiple symmetric lipomatosisis

A lipomatose simétrica múltipla ou síndrome de Madelung é uma doença rara, caracterizada por depósitos de tecido adiposo de caráter benigno, de rápido crescimento, principalmente em região cervical, dorso e, mais raramente, membros e face, em geral relacionados ao alcoolismo crônico. O tratamento cirúrgico é paliativo e a recidiva é comum. Neste trabalho é relatado um caso de paciente portador de lipomatose simétrica múltipla, seguido de revisão de literatura enfocando diagnóstico e tratamento dessa afecção.

Multiple symmetric lipomatosis, also called Madelung's syndrome, is a rare disease characterized by the accumulation of rapidly growing benign fat tissue, particularly in the cervical region, back, and more rarely in the extremities and face. It is generally associated with chronic alcoholism. Surgical treatment is palliative, and relapse is common. This paper reports the case of a patient with multiple symmetric lipomatosis followed by a review of the literature addressing the diagnosis and treatment of this condition.

Lipomatose simétrica benigna e pelagra, associadas ao alcoolismo / Benign symmetrical lipomatosis and pellagra associated with alcoholism

A 42-year-old male patient, alcoholic, presented showing signs of tumors in the neck and around the shoulders, scaly, erythematous-violaceous lesions and some bullous lesions in sun-exposed areas of upper and lower limbs. Based on clinical features, laboratory tests and imaging studies we have established the diagnosis of pellagra associated with benign symmetrical lipomatosis, both justified by chronic alcoholism. Treated with intravenous B-complex and oriented about the importance of alcohol withdrawal, the patient showed complete remission of skin lesions, but with no change in the lipomatosis.

Paciente masculino, 42 anos, etilista crônico, apresentando quadro de tumorações em região cervical e ao redor dos ombros, lesões eritemato-violáceas, descamativas e algumas lesões bolhosas, nas áreas fotoexpostas dos membros superiores e inferiores. Baseado no quadro clínico e nos exames complementares, foi estabelecido o diagnóstico de pelagra associada à lipomatose simétrica benigna, sendo ambos os quadros justificados pelo etilismo crônico. Tratado com reposição de complexo B intravenoso e orientado quanto à importância da abstinência alcoólica, apresentou remissão completa do quadro cutâneo, porém sem alteração da lipomatose.

CT and MRI findings of Madelung syndrome / 中华放射学杂志

Objective To determine the CT and MR findings of Madelung syndrome. MethodsFive cases of Madelung syndrome were collected in our hospital from February 2006 to June 2009, including 3 cases of typeⅠMadelung syndrome and 2 cases of typeⅡ Madelung syndrome. The 5 cases were all examined by CT, meanwhile 1 case by CT enhancement scanning and 2 cases by MR. The clinical characteristics and imaging manifestations were analyzed. Results CT and MR images in 3 patients of typeⅠMadelung syndrome displayed fat accumulation within the subcutaneous tissue of the upper trunk and deep layer tissue of neck. The diffuse masses were located around the neck, upper chest and shoulders, which were called horse collarandbuffalo humps. The other 2 cases of type Ⅱ Madelung syndrome displayed fat thickening within the subcutaneous tissue of the proximal extremities, anterior chest wall, showing special appearance of vigorous sailor. All the 5 patients showed fat deposit within the subcutaneous tissue of the anterior rectus abdominis, inguina and fat accumulation within the scrotum. CT showed proliferated fat at the subcutaneous tissue of the involved regions. The CT value of proliferated fat were between -30 and -70 HU. The proliferated fat tissue all could be displayed on MR T1WI,T2WI and T2WI fat suppression sequence, with typical hypointensity on T1WI and hyperintensity on T2WI, hypointensity on fat-suppression sequence and fibrous septation presenting among fat tissue. Conclusion Combination with the history of long-term alcohol abuse, the Madelung syndrome could be diagnosed by CT and MR, which had great value in the surgical planning for identifying the extent of disease.

A Case of Multiple Symmetrical Lipomatosis Causing Upper Airway Obstruction / 결핵및호흡기질환

Multiple symmetrical lipomatosis (MSL), also called Madelung's disease, is a rare disorder of unknown etiology and characterized by abnormal accumulation of large subcutaneous fatty masses in neck, shoulder, and upper trunk. MSL has known to predominantly affect middle-aged men with a history of alcoholism. Although the clinical course of MSL is considered to be slowly progressive, in advanced stage, fatty masses in the neck may compress the upper aerodigestive tract, resulting in dyspnea and dysphagia. The treatment of MSL is surgical resection, but radical excision is very difficult and recurrence after surgery is frequent. We report the case of 55-year-old man with long lasting MSL, which caused severe airway obstruction. This patient was admitted with progressive dyspnea and massive accumulation of fat around the vocal cord that was detected on a neck CT scan. This abnormal fatty infiltration in supraglottic region caused upper airway obstruction.

A Case of Multiple Symmetrical Lipomatosis Causing Upper Airway Obstruction / 결핵및호흡기질환

Multiple symmetrical lipomatosis (MSL), also called Madelung's disease, is a rare disorder of unknown etiology and characterized by abnormal accumulation of large subcutaneous fatty masses in neck, shoulder, and upper trunk. MSL has known to predominantly affect middle-aged men with a history of alcoholism. Although the clinical course of MSL is considered to be slowly progressive, in advanced stage, fatty masses in the neck may compress the upper aerodigestive tract, resulting in dyspnea and dysphagia. The treatment of MSL is surgical resection, but radical excision is very difficult and recurrence after surgery is frequent. We report the case of 55-year-old man with long lasting MSL, which caused severe airway obstruction. This patient was admitted with progressive dyspnea and massive accumulation of fat around the vocal cord that was detected on a neck CT scan. This abnormal fatty infiltration in supraglottic region caused upper airway obstruction.

Lipomatose cervical benigna: doença de Madelung / Benign cervical lipomatosis: Madelung's disease

A doença de Madelung é caracterizada por deposição múltipla e simétrica de gordura, acometendo preferencialmente a extremidade superior do corpo, com tendência à recidiva após o tratamento. Difere de outras lipomatoses pela ausência de cápsula envolvendo a lesão. O gênero masculino é o mais acometido. A etiologia parece estar relacionada a uma disfunção mitocondrial ocasionando uma lipólise deficiente. Etilismo está associado à maioria dos casos. A única abordagem terapêutica é o tratamento cirúrgico com remoção das lesões. Apresentamos o caso de um paciente do gênero masculino, etilista, submetido à cirurgia para tratamento da DM.

The Madelung's Disease is characterized by multiple and symmetric fat tissue deposition, affecting the upper body extremity, and with tendency to recurrence after the treatment. There is no capsule involving the lesions, which differs from other lipomatosis. Men are more affected. The etiology seems to be related to the mitochondrial dysfunction resulting in deficient lipolisis. Alcoholism is associated in most cases. The only possible therapeutic approach is surgery with resection of the lesions. We report the case of a man with chronic alcohol use history, submitted to surgery for treatment of the disease.

Bilateral Vocal Cord Palsy Associated with Multiple Symmetrical Lipomatosis(Madelung's Disease) / 대한이비인후과학회지

Multiple symmetrical lipomatosis (MSL) is a rare disorder characterized by the presence of multiple, symmetric, unencapsulated fat masses in the face, neck, and other areas. Typically, this entity has been related to the presence of three anterior bulges in the neck. MSL is usually described in adults from 30 to 60 years old, with an incidence of about 1 in 25,000 and a male-to-female ratio of 15 : 1 to 30 : 1. More than 90% of the patients have associated alcoholism. The etiology of MSL remains unknown, but an abnormal lipogenesis induced by catecholamines has been observed. The accumulation of fat prevents accurate clinical assessment of the neck and obscures other underlying abnormalities. In the current report, the authors described one case of MSL associated with bilateral vocal cord palsy and reviewed the associated literature.

Surgical Treatment of Two Cases of Benign Symmetrical Lipomatosis Causing Dyspnea / 대한이비인후과학회지

Benign symmetrical lipomatosis, known as Madelung's disease, is a rare disease characterized by non-encapsulated fat tissue accumulation in a symmetrical manner around the neck, shoulders, and upper extremities, rarely involving the lower limbs and the lower body. To date, there have been approximately 200 cases reported. We experienced two cases of Madelung's disease, 57 and 59 year-old man with neck and shoulder swelling and the symptom of dyspnea. Laryngoscopic and CT scan findings showed severe narrowing of supraglottic and paraglottic area, caused by fat tissue accumulation. The fat tissues were surgically excised, one by external approach and the other by laryngomicrosurgery using LASER under direct laryngoscope, with successful result. We report it with a review of the current literatures.

CT findings of Madelung's disease in the head and neck region / 中华放射学杂志

Objective To investigate the CT findings of Madelung's disease in the head and neck region,and to evaluate the value of CT in demonstrating the Madelung's disease in the head and neck region.Methods CT findings of Madelung's disease in the head and neck region in 7 cases were analyzed retrospectively.All were males,with the age from 36 to 60 years,mean 51 years.All patients were underwent CT native scan,and enhanced CT scan was performed on 3 of them.Results CT images in the neck of all patients showed accumulation of nonencapsulated fat within the subcutaneous tissue and(or) deep to the platysma,and(or)within the spaces between the muscles.The fat deposits were ill-defined and symmetrical.In most cases the fat deposits involved the anterior part of the neck(infrahyoid and suprahyoid),submandibular region,the subcutaneous tissue of the nape and deep to the stenomastoid muscles.Conclusions Madelung's disease in the head and neck region have characteristic CT findings,and CT has great value in qualitative and quantitative diagnosis in Madelung's disease.