Rare diseases · Sign or symptom
Aplasia cutis congenita
Absence of part of skin at birth
HP:0001057
What it means
A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
Rare diseases that can present with this16
Very common80–99%
6Common30–79%
3Sometimes5–29%
7- Autosomal dominant deafness-onychodystrophy syndrome
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Junctional epidermolysis bullosa with pyloric atresia
- Localized junctional epidermolysis bullosa
- Self-improving dystrophic epidermolysis bullosa
- Severe generalized junctional epidermolysis bullosa
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: Congenital absence of skin · Congenital scars · Cutis aplasia
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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.