Rare diseases · Sign or symptom
Telangiectasia of the skin
HP:0100585
What it means
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Rare diseases that can present with this45
Very common80–99%
15- Alpha-N-acetylgalactosaminidase deficiency type 2
- Arterial tortuosity syndrome
- Ataxia-telangiectasia
- Atypical Werner syndrome
- Fabry disease
- Familial cylindromatosis
- Hereditary acrokeratotic poikiloderma
- Hereditary hemorrhagic telangiectasia
- Infantile systemic hyalinosis
- Juvenile dermatomyositis
- Malignant atrophic papulosis
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- PCNA-related progressive neurodegenerative photosensitivity syndrome
- Segmental venous malformation
- Xeroderma pigmentosum
Common30–79%
18- 17q11microdeletion syndrome
- Acrogeria
- Alagille syndrome
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Cutis marmorata telangiectatica congenita
- Deafness-intellectual disability syndrome, Martin-Probst type
- Diffuse cutaneous systemic sclerosis
- Discoid lupus erythematosus
- Dyskeratosis congenita
- Familial multiple trichoepithelioma
- Focal dermal hypoplasia
- Limited cutaneous systemic sclerosis
- Livedoid vasculopathy
- Necrobiosis lipoidica
- Non-involuting congenital hemangioma
- Rapidly involuting congenital hemangioma
- Reynolds syndrome
- Werner 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: Teleangiectasia of the skin
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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.