Rare diseases · Sign or symptom
Abnormal skin pigmentation
Abnormal pigmentation
HP:0001000
What it means
An abnormality of the pigmentation of the skin.
Rare diseases that can present with this45
Very common80–99%
15- Alkaptonuria
- Bullous diffuse cutaneous mastocytosis
- Cronkhite-Canada syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Erythrokeratoderma ''en cocardes''
- Fanconi anemia
- Incontinentia pigmenti
- Intermediate generalized junctional epidermolysis bullosa
- Large/giant congenital melanocytic nevus
- Limited cutaneous systemic sclerosis
- Mandibuloacral dysplasia
- Microphthalmia with linear skin defects syndrome
- Proteus syndrome
- Tietz syndrome
- Waardenburg syndrome
Common30–79%
14- Adrenomyeloneuropathy
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Cholestasis-lymphedema syndrome
- Chronic graft versus host disease
- Cohen syndrome
- Craniolenticulosutural dysplasia
- Darier disease
- Familial cutaneous collagenoma
- Free sialic acid storage disease
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Hypertrichosis lanuginosa congenita
- Kindler epidermolysis bullosa
- Lipodystrophy due to peptidic growth factors deficiency
- Ring chromosome 7 syndrome
The 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: Abnormality of pigmentation · Abnormality of skin pigmentation · Pigmentary changes · Pigmentary skin changes · Pigmentation anomaly
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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.