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primary localized cutaneous amyloidosis 3
Summary
- Synonym
-
- Amyloidosis cutis dyschromica
- Definition
- A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
- Super Class
- primary cutaneous amyloidosis
External Links
- Disease Ontology
- DOID:0080932
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000992 | Cutaneous photosensitivity |
| HP:0011463 | Childhood onset |
| HP:0000958 | Dry skin |
| HP:0003621 | Juvenile onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001034 | Hypermelanotic macule |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0000989 | Pruritus |
