Rare diseases · Sign or symptom
Generalized abnormality of skin
Generalised abnormality of skin
HP:0011354
What it means
An abnormality of the skin that is not localized to any one particular region.
Rare diseases that can present with this26
Very common80–99%
11- Acrodermatitis enteropathica
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Diffuse cutaneous mastocytosis
- Glycogen storage disease due to glycogen branching enzyme deficiency
- Hutchinson-Gilford progeria syndrome
- Maculopapular cutaneous mastocytosis
- Reynolds syndrome
- Scleromyxedema
- Self-improving dystrophic epidermolysis bullosa
- Tuberous sclerosis complex
Common30–79%
8- Alpha-mannosidosis
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- IgA pemphigus
- Indolent systemic mastocytosis
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- Short stature-webbed neck-heart disease syndrome
- Uremic pruritus
Sometimes5–29%
4The 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
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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.