Rare diseases · Sign or symptom
Scaling skin
flaking skin
HP:0040189
What it means
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Rare diseases that can present with this29
Common30–79%
10- Acral peeling skin syndrome
- Acute generalized exanthematous pustulosis
- Acute radiation syndrome
- Ectodermal dysplasia-skin fragility syndrome
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- KID syndrome
- Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- Pemphigus foliaceus
- X-linked dominant chondrodysplasia punctata
Sometimes5–29%
15- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Bacterial toxic-shock syndrome
- Centrifugal lipodystrophy
- Cutaneous mastocytoma
- Diffuse cutaneous mastocytosis
- Graft versus host disease
- Hypotrichosis simplex of the scalp
- KRT1-related diffuse nonepidermolytic keratoderma
and 7 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, and Orphanet separately records 1 disease 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: Desquamation · Exfoliation · peeling skin · Scaly 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.