Rare diseases · Sign or symptom
Milia
Milk spot
HP:0001056
What it means
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Milia are a normal finding in newborn babies (40-50%), often occurring around the nose.
Rare diseases that can present with this24
Very common80–99%
3Common30–79%
9- Autosomal dominant generalized dystrophic epidermolysis bullosa
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Bazex-Dupré-Christol syndrome
- Epidermolysis bullosa acquisita
- Localized dystrophic epidermolysis bullosa, acral form
- Localized dystrophic epidermolysis bullosa, pretibial form
- Recessive dystrophic epidermolysis bullosa inversa
- Self-improving dystrophic epidermolysis bullosa
Sometimes5–29%
10- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- Autosomal recessive generalized epidermolysis bullosa simplex
- Dystrophic epidermolysis bullosa pruriginosa
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex with pyloric atresia
- Junctional epidermolysis bullosa inversa
- Kindler epidermolysis bullosa
- Naegeli-Franceschetti-Jadassohn syndrome
and 2 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: Millium cyst
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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.