Farber disease (Q53203): Difference between revisions
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A doença de Farber é uma das formas mais raras de doença lisossômica com alta variabilidade clínica. Os sinais mais frequentes são nódulos subcutâneos periarticulares, contraturas (responsáveis pelo exame clínico doloroso), rouquidão, sintomas neurológicos e, às vezes, hepatoesplenomegalia. | |||
| description / en | description / en | ||
Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly. | |||
Revision as of 00:38, 14 August 2026
Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_122136943 |
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| English | Farber disease |
Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly. |
