Rare diseases · Sign or symptom
Macule
Flat, discolored area of skin
HP:0012733
What it means
A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
Rare diseases that can present with this45
Very common80–99%
24- Angioma serpiginosum
- Bullous pemphigoid
- Chronic granulomatous disease
- Cowden syndrome
- Cutaneous collagenous vasculopathy
- Cutaneous mastocytosis-deafness-microtia syndrome
- Dermatitis herpetiformis
- Drug reaction with eosinophilia and systemic symptoms
- Dyschromatosis symmetrica hereditaria
- Dyschromatosis universalis hereditaria
- Dyskeratosis congenita
- Eosinophilic fasciitis
- Erythrokeratodermia variabilis
- Exostoses-anetodermia-brachydactyly type E syndrome
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Kaposi sarcoma
- Neurofibromatosis type 1
- Peutz-Jeghers syndrome
- Rheumatic fever
- Schnitzler syndrome
- Spinocerebellar ataxia type 34
- Stevens-Johnson syndrome
- Toxic epidermal necrolysis
- Tumor necrosis factor receptor 1 associated periodic syndrome
Common30–79%
10The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Flat, discoloured area of skin
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.