Trait
Nevus psiloliparus
Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test1 gene linked to Nevus psiloliparus
Changes in these genes cause rare conditions in which Nevus psiloliparus is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| FGFR1fibroblast growth factor receptor 1 | Always | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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