Rare diseases · Sign or symptom
Irregular hyperpigmentation
HP:0007400
Rare diseases that can present with this35
Very common80–99%
17- Acrogeria
- Albinism-deafness syndrome
- Alkaptonuria
- Bannayan-Riley-Ruvalcaba syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- Familial multiple nevi flammei
- Fanconi anemia
- Hereditary acrokeratotic poikiloderma
- Hyperkeratosis-hyperpigmentation syndrome
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Netherton syndrome
- Pityriasis rubra pilaris
- Progressive hemifacial atrophy
- Proteus-like syndrome
- Proteus syndrome
Common30–79%
11- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Classic mycosis fungoides
- Ermine phenotype
- Erythrokeratodermia variabilis
- Hypocomplementemic urticarial vasculitis
- Linear nevus sebaceus syndrome
- Multiple benign circumferential skin creases on limbs
- Pellagra
- Piebald trait-neurologic defects syndrome
- Reynolds syndrome
- Systemic sclerosis
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
Irregular hyperpigmentation
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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.