lipoid proteinosis
ICD-10: E78.8MeSH: D008065ORPHA: 530
Overview
rare recessive genetic disorder
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with lipoid proteinosis, sourced from HPO and Orphanet clinical annotations.
Abnormality of the gingivaThick lower lip vermilionTongue nodulesAcneThickened skinSubcutaneous noduleHoarse voiceAbnormal blistering of the skinAbnormal oral mucosa morphologyScarringPapulePustuleMicroglossiaHigh palateHyperkeratosisDystoniaDysphagiaRecurrent respiratory infectionsAlopecia of scalpVerrucaeSeizureCerebral calcificationNasal polyposis
Classification & Codes
ICD-10 Code
E78.8MeSH Code
D008065Orphanet Code
ORPHA:530lipoid proteinosis
| ICD-10 | E78.8 |
| MeSH | D008065 |
| Orphanet | ORPHA:530 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO