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Advisor(s)
Abstract(s)
A LSM é uma doença pouco frequente e caracterizada pelo crescimento de lipomas
não encapsulados e indolores. Os lipomas estão localizados preferencialmente no pescoço,
região escapular, parte proximal dos membros superiores e inferiores excluindo o rosto e a
parte distal dos membros. A doença geralmente começa entre os 30 e os 60 anos e
predomina no sexo masculino. A maioria dos doentes apresenta hábitos alcoólicos severos.
Existe um pequeno número de casos familiares, conhecidos como LMF. A análise ultraestrutural
dos adipócitos das massas lipomatosas mostra que estes possuem características
mais próximas do tecido adiposo castanho que do tecido adiposo branco. Existem
inúmeras hipóteses que tentam esclarecer a sua etiopatogenia. As mais recentes defendem
que a LSM é devido a um defeito adrenérgico na proliferação e diferenciação dos
adipoblastos castanhos e que uma disfunção mitocondrial pode estar envolvida na
patogénese da doença. A LSM pode associar-se a neuropatia, hiperuricémia, hepatopatia e
tumores malignos das vias aérea e digestiva. O crescimento das massas lipomatosas pode
causar dispneia, disfagia, SAOS e síndrome da veia cava superior. A dieta alimentar não
possui efeito sobre o crescimento do tecido lipomatoso e a abstinência alcoólica é, até à
data, a medida terapêutica não cirúrgica que se mostrou mais eficaz (mesmo que apenas
parcialmente) no atraso do crescimento das massas lipomatosas. As injecções intra-lesionais
de enoxaparina e fosfatidilcolina também têm sido tentadas como medidas alternativas para
o tratamento médico embora nenhuma delas se tenha revelado totalmente eficaz. O
tratamento cirúrgico, quer por lipectomia quer por lipoaspiração, são os únicos que até hoje
se mostraram efectivos, apesar de a remoção completa dos tumores ser difícil e, como tal, a recidiva ser frequente. Apesar do seu curso ser, regra geral, benigno, pode haver uma
mortalidade substancialmente elevada nos indivíduos com LSM. Com o objectivo principal
de promover uma melhor compreensão da LSM, apresenta-se uma revisão bibliográfica
sobre o tema e uma série de 6 casos clínicos cujos resultados confirmam vários dos
aspectos típicos da LSM, nomeadamente a idade de início, a preferência pelo sexo
masculino e a localização preferencial das massas lipomatosas em determinadas regiões
anatómicas. Três dos casos clínicos apresentam um padrão de distribuição típico e
característico respectivamente, de LMF, LSM tipo I e LSM tipo II. Também fazem parte
desta série dois casos “atípicos”, um por ser numa criança de 3 anos do sexo feminino com
um quadro clínico compatível com LSM e outro por o doente apresentar LMF e um
lipossarcoma retroperitoneal de grandes dimensões, levantando a hipótese de provável
degeneração maligna de um dos lipomas a lipossarcoma.
Multiple symmetrical lipomatosis (MSL) is a rare disease characterized by a progressive growing of unpainfull and non-encapsulated lipomas. The lipomas are preferentially localized in the neck, scapular region and proximal part of the arms and legs. Usually, the face and the distal part of the extremities are spared. The disease typically affects men in the middle age (between 30-60 years). The majority of the cases have a history of severe alcohol intake associated. There are a small number of reported cases that shows a familiar form of the disease, named as Familial Multiple Lipomatosis. The ultrastructural analysis of the lipomatous masses shows adipose cells with features that are more characteristically found in brown adipose tissue than in white adipose tissue. Several theories are proposed to explain the pathogeny of the disease. The most recent ones hypothesise that an adrenergic defect in the differentiation and proliferation of brown precursors and/or the existence of a mitochondrial dysfunction may be the causes of the disease. MSL is frequently associated with neuropathy, gout, liver disease and malignant aero-digestive tumours. The extension and infiltration capacity of lipomatous masses can cause compressive symptoms like dyspnoea, dysphagy, sleep apnoea and upper cava vein syndrome. Diet has no effect in slowing the progressive growth of the lipomatous masses. However, the alcoholic abstinence is known to be at least partially effective in slowing the progression of the lipomatous masses. Although in an ineffective way, intra-lesional enoxaparine and phosphatidilcholine injections has been tried as alternative medical treatments in MSL patients. The surgical treatment, using lipectomy or liposuction, is, to date, the only effective treatment of MSL. However, as a radical and complete remotion of these tumours is very difficult to be achieved, the recurrence of the disease is highly frequent. Although the benign evolution normally associated with the disease, a substantially elevated mortality and morbidity rates are sometimes found among some MSL patients. With the main goal of providing a better understanding of the disease, here we present a revision of the literature about MSL and the documentation of six cases which results confirms several aspects that characterises the majority of patients with MSL, like the onset age, the higher incidence in male individuals and the preferential localization of the lipomatous masses in specific anatomic sites. Three of the cases have lipomas with a typical distribution that allow the diagnosis of FML, MSL type I and MSL type II. Other two cases presented here have an “atypical appearance”, one of them because it affects a female child under the three years of age and the other one because the patient presents FML and an exuberant retroperitoneal lipossarcoma, suggesting a possible malignant degeneration of a lipoma, deeply situated, to a lipossarcoma.
Multiple symmetrical lipomatosis (MSL) is a rare disease characterized by a progressive growing of unpainfull and non-encapsulated lipomas. The lipomas are preferentially localized in the neck, scapular region and proximal part of the arms and legs. Usually, the face and the distal part of the extremities are spared. The disease typically affects men in the middle age (between 30-60 years). The majority of the cases have a history of severe alcohol intake associated. There are a small number of reported cases that shows a familiar form of the disease, named as Familial Multiple Lipomatosis. The ultrastructural analysis of the lipomatous masses shows adipose cells with features that are more characteristically found in brown adipose tissue than in white adipose tissue. Several theories are proposed to explain the pathogeny of the disease. The most recent ones hypothesise that an adrenergic defect in the differentiation and proliferation of brown precursors and/or the existence of a mitochondrial dysfunction may be the causes of the disease. MSL is frequently associated with neuropathy, gout, liver disease and malignant aero-digestive tumours. The extension and infiltration capacity of lipomatous masses can cause compressive symptoms like dyspnoea, dysphagy, sleep apnoea and upper cava vein syndrome. Diet has no effect in slowing the progressive growth of the lipomatous masses. However, the alcoholic abstinence is known to be at least partially effective in slowing the progression of the lipomatous masses. Although in an ineffective way, intra-lesional enoxaparine and phosphatidilcholine injections has been tried as alternative medical treatments in MSL patients. The surgical treatment, using lipectomy or liposuction, is, to date, the only effective treatment of MSL. However, as a radical and complete remotion of these tumours is very difficult to be achieved, the recurrence of the disease is highly frequent. Although the benign evolution normally associated with the disease, a substantially elevated mortality and morbidity rates are sometimes found among some MSL patients. With the main goal of providing a better understanding of the disease, here we present a revision of the literature about MSL and the documentation of six cases which results confirms several aspects that characterises the majority of patients with MSL, like the onset age, the higher incidence in male individuals and the preferential localization of the lipomatous masses in specific anatomic sites. Three of the cases have lipomas with a typical distribution that allow the diagnosis of FML, MSL type I and MSL type II. Other two cases presented here have an “atypical appearance”, one of them because it affects a female child under the three years of age and the other one because the patient presents FML and an exuberant retroperitoneal lipossarcoma, suggesting a possible malignant degeneration of a lipoma, deeply situated, to a lipossarcoma.
Description
Keywords
Lipomatose Lipomatose simétrica múltipla Lipomatose simétrica múltipla - Hereditariedade Lipomatose simétrica múltipla - Diagnóstico Lipomatose simétrica múltipla - Tratamento Doença de Madelung Doença de Launois-Bensaude Lipossarcoma
Citation
Publisher
Universidade da Beira Interior