Rare diseases · Sign or symptom
Abnormality of the skin
HP:0000951
What it means
An abnormality of the skin.
Rare diseases that can present with this30
Very common80–99%
13- Acrogeria
- CAMOS syndrome
- Chronic mucocutaneous candidiasis
- Costello syndrome
- Cutis marmorata telangiectatica congenita
- Diffuse cutaneous systemic sclerosis
- Dysbetalipoproteinemia
- Limited cutaneous systemic sclerosis
- Pseudoxanthoma elasticum
- Scalp-ear-nipple syndrome
- Splenogonadal fusion-limb defects-micrognathia syndrome
- Unilateral ocular duplication
- X-linked dominant chondrodysplasia punctata
Common30–79%
9Sometimes5–29%
8- Bilateral parasagittal parieto-occipital polymicrogyria
- Brucellosis
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Congenital tufting enteropathy
- Diffuse alveolar hemorrhage
- Hypoplasminogenemia
- Melorheostosis with osteopoikilosis
- SATB2-associated syndrome due to a pathogenic variant
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, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Dermatopathy · Dermopathy · Skin abnormality
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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.