primary localized cutaneous amyloidosis 3

Term ID

DOID:0080932

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/25866143/

References

• OMIM:617920

Ontology

Human Disease   ( DOID:0080932 )