Rare diseases · Sign or symptom
Hypopigmentation of the skin
Patchy lightened skin
HP:0001010
What it means
A reduction of skin color related to a decrease in melanin production and deposition.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this56
Very common80–99%
13- Chédiak-Higashi syndrome
- Hermansky-Pudlak syndrome
- Maternal uniparental disomy of chromosome X syndrome
- Microcephaly-albinism-digital anomalies syndrome
- Neuroectodermal melanolysosomal disease
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism type 1B
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Paternal 20q13.2q13.3 microdeletion syndrome
- Rothmund-Thomson syndrome type 2
- Tietz syndrome
- Vici syndrome
- Xeroderma pigmentosum variant
Common30–79%
23- Acute radiation syndrome
- Angelman syndrome
- Angelman syndrome due to a point mutation
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Bloom syndrome
- Congenital erythropoietic porphyria
- Discoid lupus erythematosus
- Epidermal nevus syndrome
- Hepatoerythropoietic porphyria
- Idiopathic small fibers neuropathy
- Obesity due to prohormone convertase I deficiency
- Obesity due to pro-opiomelanocortin deficiency
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 3
- Oculocutaneous albinism type 4
- Phenylketonuria
- Prader-Willi syndrome
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Rothmund-Thomson syndrome type 1
Sometimes5–29%
16- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal recessive generalized epidermolysis bullosa simplex
- Drug-induced localized lipodystrophy
- Homocystinuria due to cystathionine beta-synthase deficiency
- Idiopathic localized lipodystrophy
- Mosaic trisomy 8 syndrome
- Naegeli-Franceschetti-Jadassohn syndrome
- Porphyria cutanea tarda
and 8 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: Hypopigmentation · Hypopigmented skin · Skin hypopigmentation
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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.