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Trait

Follicular hyperkeratosis

A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.

HPO HP:0007502

Summary

Also called
Hyperkeratosis follicularis
Body system
Abnormality of the integument

32 genes linked to Follicular hyperkeratosis

Changes in these genes cause rare conditions in which Follicular hyperkeratosis 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
CASTcalpastatinAlwaysIn 1 condition
CDH3cadherin 3AlwaysIn 1 condition
COL6A1collagen type VI alpha 1 chainAlwaysIn 2 conditions
DSC3desmocollin 3AlwaysIn 1 condition
KRT16keratin 16AlwaysIn 3 conditions
KRT81keratin 81AlwaysIn 2 conditions
KRT83keratin 83AlwaysIn 2 conditions
MBTPS1membrane bound transcription factor peptidase, site 1AlwaysIn 1 condition
NLRP1NLR family pyrin domain containing 1AlwaysIn 2 conditions
PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1AlwaysIn 1 condition
RBP4retinol binding protein 4AlwaysIn 1 condition
SLC27A4solute carrier family 27 member 4AlwaysIn 1 condition
SREBF1sterol regulatory element binding transcription factor 1AlwaysIn 1 condition
TRIP4thyroid hormone receptor interactor 4AlwaysIn 2 conditions
DSG4desmoglein 4Very often (80–99%)In 2 conditions
FKBP14FKBP prolyl isomerase 14Very often (80–99%)In 2 conditions
KRT86keratin 86Very often (80–99%)In 1 condition
GJB2gap junction protein beta 2Often (30–79%)In 1 condition
GJB6gap junction protein beta 6Often (30–79%)In 1 condition
KRT17keratin 17Often (30–79%)In 1 condition
KRT6Akeratin 6AOften (30–79%)In 3 conditions
KRT6Bkeratin 6BOften (30–79%)In 1 condition
LRP1LDL receptor related protein 1Often (30–79%)In 2 conditions
MBTPS2membrane bound transcription factor peptidase, site 2Often (30–79%)In 3 conditions
SAT1spermidine/spermine N1-acetyltransferase 1Often (30–79%)In 1 condition
WNT10AWnt family member 10AOften (30–79%)In 1 condition
DDR2discoidin domain receptor tyrosine kinase 2Sometimes (5–29%)In 1 condition
PKP1plakophilin 1Sometimes (5–29%)In 1 condition
POFUT1protein O-fucosyltransferase 1Not recordedIn 1 condition
PSENENpresenilin enhancer, gamma-secretase subunitNot recordedIn 1 condition
RHBDF2rhomboid 5 homolog 2Not recordedIn 1 condition
TARS1threonyl-tRNA synthetase 1Not 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

Hyperkeratosis

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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