Rare diseases · Sign or symptom
Hyperpigmentation of the skin
Patchy darkened skin
HP:0000953
What it means
A darkening of the skin related to an increase in melanin production and deposition.
Rare diseases that can present with this63
Very common80–99%
16- Acute adrenal insufficiency
- Addison disease
- Blau syndrome
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Deaf blind hypopigmentation syndrome, Yemenite type
- H syndrome
- Infantile systemic hyalinosis
- Microphthalmia with linear skin defects syndrome
- Primary biliary cholangitis
- Rothmund-Thomson syndrome type 2
- Spastic paraplegia-facial-cutaneous lesions syndrome
- Subcorneal pustular dermatosis
- Symptomatic form of HFE-related hemochromatosis
- Thumb deformity-alopecia-pigmentation anomaly syndrome
- Xeroderma pigmentosum variant
- X-linked adrenal hypoplasia congenita
Common30–79%
25- 12q14microdeletion syndrome
- Acute radiation syndrome
- ANE syndrome
- Autoimmune polyendocrinopathy type 1
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Beta-thalassemia major
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Congenital erythropoietic porphyria
- Craniolenticulosutural dysplasia
- Cushing disease
- Cushing syndrome due to ectopic ACTH secretion
- Epidermal nevus syndrome
- Epidermolysis bullosa simplex with circinate migratory erythema
- Hepatoerythropoietic porphyria
- Hereditary bullous dystrophy, macular type
- Livedoid vasculopathy
- Lymphatic filariasis
- Mandibuloacral dysplasia with type B lipodystrophy
- POEMS syndrome
- Rothmund-Thomson syndrome type 1
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- Stiff skin syndrome
- Zellweger-like syndrome without peroxisomal anomalies
Sometimes5–29%
18- 11q22.2q22.3microdeletion syndrome
- Acral peeling skin syndrome
- Autosomal recessive generalized epidermolysis bullosa simplex
- Cutaneous mastocytoma
- Drug-induced localized lipodystrophy
- Epidermolysis bullosa acquisita
- Fixed drug eruption
- Full NF2-related schwannomatosis
and 10 more in this range
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: Cutaneous hyperpigmentation · Hyperpigmented lesion · Increased skin pigmentation · Melanoderma · Melanodermia · Skin 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.