Rare diseases · Sign or symptom
Hypopigmented skin patches
Patchy loss of skin color
HP:0001053
Rare diseases that can present with this63
Very common80–99%
23- Acrofrontofacionasal dysostosis
- Albinism-deafness syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Curry-Jones syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness-vitiligo-achalasia syndrome
- Dyschromatosis universalis hereditaria
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Ermine phenotype
- Fanconi anemia
- Griscelli syndrome
- Hereditary acrokeratotic poikiloderma
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Limited cutaneous systemic sclerosis
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Phakomatosis pigmentovascularis
- Piebald trait-neurologic defects syndrome
- Spastic paraplegia-facial-cutaneous lesions syndrome
- Tetragametic chimerism syndrome
- Vogt-Koyanagi-Harada disease
- Waardenburg syndrome
- Waardenburg syndrome type 1
Common30–79%
15- Autoimmune polyendocrinopathy type 2
- Classic mycosis fungoides
- Dyskeratosis congenita
- Eosinophilic granulomatosis with polyangiitis
- Gemignani syndrome
- Harrod syndrome
- Inherited epidermodysplasia verruciformis
- Microcephalic osteodysplastic primordial dwarfism type II
- Microphthalmia with linear skin defects syndrome
- Oculocerebrocutaneous syndrome
- Piebaldism
- Pseudopelade of Brocq
- Thumb deformity-alopecia-pigmentation anomaly syndrome
- Waardenburg syndrome type 2
- Xeroderma pigmentosum
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: Patchy loss of skin colour
Hypopigmented skin patches
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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.