Rare diseases · Sign or symptom
Rimmed vacuoles
HP:0003805
What it means
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers.
Rare diseases that can present with this22
Very common80–99%
5Common30–79%
12- Adenylosuccinate synthetase-like 1-related distal myopathy
- Adult-onset distal myopathy due to VCP mutation
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Distal myopathy, Welander type
- DPM3-CDG
- Emery-Dreifuss muscular dystrophy
- Hereditary myopathy with early respiratory failure
- HNRNPA1-related adult-onset distal myopathy
- Tibial muscular dystrophy
- Vocal cord and pharyngeal distal myopathy
- X-linked Emery-Dreifuss muscular dystrophy
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Rimmed vacuoles on biopsy
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.