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ORPHA:548Disease
What it is
A chronic infectious disease affecting primarily the skin and peripheral nervous system.
Key facts
- Prevalence
- 1-9 / 100 000 (annual incidence)
- Age of onset
- All ages
- Inheritance
- Multigenic/multifactorial
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
15- Abnormal autonomic nervous system physiology
- Acral ulceration
- Acute episodes of neuropathic symptoms
- Anti-sphingolipid antibody positivity
- Dissociated sensory loss
- Enlarged peripheral nerve
- Entrapment neuropathy
- Hyperkeratosis
- Hypohidrosis
- Hypopigmented macule
- Impaired temperature sensition
- Paresthesia
- Skeletal muscle atrophy
- Skin nodule
- Sparse body hair
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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