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Trait

Poikiloderma

Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.

HPO HP:0001029

Summary

Body system
Abnormality of the integument

25 genes linked to Poikiloderma

Changes in these genes cause rare conditions in which Poikiloderma 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.

GeneHow often it is seenConditions
ANAPC1anaphase promoting complex subunit 1AlwaysIn 2 conditions
DNA2DNA replication helicase/nuclease 2AlwaysIn 1 condition
FAM111BFAM111 trypsin like peptidase BAlwaysIn 1 condition
FERMT1FERM domain containing kindlin 1AlwaysIn 2 conditions
IARS2isoleucyl-tRNA synthetase 2, mitochondrialAlwaysIn 1 condition
LMNAlamin A/CAlwaysIn 2 conditions
LTV1LTV1 ribosome biogenesis factorAlwaysIn 1 condition
RECQL4RecQ like helicase 4AlwaysIn 5 conditions
USB1U6 snRNA biogenesis phosphodiesterase 1AlwaysIn 1 condition
DDB2damage specific DNA binding protein 2Very often (80–99%)In 2 conditions
ERCC2ERCC excision repair 2, TFIIH core complex helicase subunitVery often (80–99%)In 3 conditions
ERCC3ERCC excision repair 3, TFIIH core complex helicase subunitVery often (80–99%)In 2 conditions
ERCC4ERCC excision repair 4, endonuclease catalytic subunitVery often (80–99%)In 2 conditions
ERCC5ERCC excision repair 5, endonucleaseVery often (80–99%)In 2 conditions
POLHDNA polymerase etaVery often (80–99%)In 2 conditions
XPAXPA, DNA damage recognition and repair factorVery often (80–99%)In 2 conditions
XPCXPC complex subunit, DNA damage recognition and repair factorVery often (80–99%)In 2 conditions
CD28CD28 moleculeOften (30–79%)In 1 condition
COL7A1collagen type VII alpha 1 chainOften (30–79%)In 1 condition
CTLA4cytotoxic T-lymphocyte associated protein 4Often (30–79%)In 1 condition
TNFRSF1BTNF receptor superfamily member 1BOften (30–79%)In 1 condition
BLMBLM RecQ like helicaseSometimes (5–29%)In 1 condition
MTX2metaxin 2Sometimes (5–29%)In 1 condition
RNU7-1RNA, U7 small nuclear 1Sometimes (5–29%)In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factorNot recordedIn 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

Abnormal skin structure

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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