Disease - Dowling-Degos disease 1
- DefinitionAn autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.
- AcronymDDD1
- Alternative names
- Cross references
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Browse 1 entry- Keratin, type II cytoskeletal 5 · Gene: KRT5 · Homo sapiens (Human) · 590 amino acids · Evidence at protein level · Annotation score: 5/5