Hamartoma

Hamartoma
Hamartoma
Um hamartoma (parte escura circular) de 9cm em um baço de 11cm de diâmetro. Apenas a ponta vermelha está saudável.[1]
Especialidade genética médica, patologia
Classificação e recursos externos
CID-10 Q85.9
CID-9 757.32, 759.6
DiseasesDB 19785
MeSH D006222
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Hamartoma (do grego antigo, hamartion corpo defeituoso) é uma malformação focal parecida com um tumor benigno, mas que nao é uma neoplasia e raramente dá origem algo maligno. [2] Pode crescer em qualquer parte do corpo. que cresce controladamente na mesma proporção que as células vizinhas, ainda que se desenvolva desorganizadamente.

Tipos

Incluem um grande número de malformações parecidas com tumores benignos[3][4]:

Locais

Existe literatura descrevendo casos em via respiratória, via gastrointestinal, hipotálamo, coração, ossos, cartilagem, fibras, rim, baço, pele, mucosas, mama, olho e alguns tipos já são classificados pelo local que afetam. É difícil saber qual o tipo e local mais comum com tantos casos assintomáticos, tantos tipos e sem obrigação de reportar.

Causas

É o resultado de um erro no desenvolvimento de um ou mais tecidos celulares. Alguns tipos podem ter causa genética ou radiação, mas um grande número de hamartomas permanece com causa desconhecida.[7] Doença de Cowden e esclerose tuberosa são hereditárias autossômica dominante. Síndrome de Proteus pode ser causada por mutações no gene supressor PTEN ou por uma mutação que afeta a produção de AKT1 quinase oncogene, uma enzima envolvida na proliferação celular.[4]

Sinais e sintomas

Geralmente é assintomático e representa um achado não intencional. Pode no entanto causar "efeito de massa", pois conforme cresce, deforma os órgãos próximos. Normalmente desenvolve tecido lipídico, mas também pode apresentar calcificações benignas facilmente visíveis numa imagem de TC (Tomografia Computorizada).

Inicialmente pode ser apenas um problema estético, mas pode causar dor ao pressionar nervos e causar obstrução ao bloquear vias sistêmicas conforme cresce. No cérebro podem causar epilepsia, problemas mentais e problemas de visão. Pode deformar a pele.[4]

Diagnóstico

Por biópsia e diagnóstico por imagem (TCEP,TC,RMI, ultrassom...) adequado ao tipo de tecido.

Tratamento

Enquanto não causam muito incômodo o tratamento deve ser conservador, devendo se restringir aos sintomas. Quando crescem muito podem ser removidas cirurgicamente com a técnica adequada para o local.[4]

Referências

  1. Uthman, Ed (2 de janeiro de 1999). «Hamartoma of the spleen». [Personal website]. Consultado em 30 de julho de 2014 
  2. http://www.tabers.com/tabersonline/ub/view/Tabers/74408/43/hamartoma?q=hamartoma
  3. http://emedicine.medscape.com/article/1254012-overview
  4. a b c d http://www.patient.co.uk/doctor/hamartomas
  5. «Taber's Medical Dictionary : hamartoma definition». Consultado em 25 de setembro de 2008 
  6. Jelsig AM, Qvist N, Brusgaard K, et al; Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101.
  7. http://emedicine.medscape.com/article/1254012-overview#aw2aab6b5

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