Rare diseases · Sign or symptom
Acne
HP:0001061
What it means
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this32
Very common80–99%
7Common30–79%
15- 22q11.2deletion syndrome
- Behçet disease
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Cushing disease
- Cushing syndrome due to ectopic ACTH secretion
- Estrogen resistance syndrome
- Familial benign copper deficiency
- Familial peripheral male-limited precocious puberty
- Generalized glucocorticoid resistance syndrome
- Majeed syndrome
- Pachydermoperiostosis
- SAPHO syndrome
- Sweet syndrome
- XYLT1-CDG
Sometimes5–29%
9- Acromegaly
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Fowler urethral sphincter dysfunction syndrome
- Morgagni-Stewart-Morel syndrome
- Ring chromosome 12 syndrome
- Subaortic stenosis-short stature syndrome
and 1 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Breaking out
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.