# Ceratodermia palmoplantar difusa

> Página oficial: https://raras.org/doenca/ceratodermia-palmoplantar-difusa
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 307141 — https://www.orpha.net/en/disease/detail/307141
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Ceratodermia palmoplantar que envolve difusamente a maior parte da palma e planta do pé e é causada por uma anomalia genética.

## Epidemiologia e herança


## Sinais e sintomas (366 fenótipos HPO)

- **Manchas cutâneas hipopigmentadas** — HPO: HP:0001053
- **Lacrimação diminuída** — HPO: HP:0000633
- **Paraqueratose** — HPO: HP:0001036
- **Aplasia/Hipoplasia da sobrancelha** — HPO: HP:0100840
- **Baqueteamento dos dedos** — HPO: HP:0100759
- **Unhas distróficas** — HPO: HP:0008391
- **Ceratoconjuntivite seca** — HPO: HP:0001097
- **Fotofobia** — HPO: HP:0000613
- **Deficiência auditiva neurossensorial grave** — HPO: HP:0008625
- **Infecções recorrentes por Candida** — HPO: HP:0005401
- **Infecções fúngicas cutâneas recorrentes** — HPO: HP:0011370
- **Catarata do desenvolvimento** — HPO: HP:0000519
- **Acrocianose** — HPO: HP:0001063
- **Anormalidade dos dentes decíduos** — HPO: HP:0006481
- **Carcinoma de células escamosas** — HPO: HP:0002860
- **Glaucoma** — HPO: HP:0000501
- **Reversão sexual** — HPO: HP:0012245
- **Hipoplasia genital externa** — HPO: HP:0003241
- **Unhas frágeis** — HPO: HP:0001808
- **Morfologia anormal da unha** — HPO: HP:0001231
- **Distúrbio da marcha** — HPO: HP:0001288
- **Ceratose palmoplantar simétrica congênita** — HPO: HP:0007553
- **Deficiência visual** — HPO: HP:0000505
- **Focalização isoelétrica anormal da transferrina sérica** — HPO: HP:0003160
- **Telangiectasia facial** — HPO: HP:0007380
- **Distrofia ungueal** — HPO: HP:0008404
- **Anormalidade do cabelo** — HPO: HP:0001595
- **Hiperpigmentação da pele** — HPO: HP:0000953
- **Sensação de temperatura prejudicada** — HPO: HP:0010829
- **Triquíase** — HPO: HP:0001128
- **Unha curta** — HPO: HP:0001799
- **Unha estriada** — HPO: HP:0001807
- **Glândulas lacrimais aplásticas/hipoplásticas** — HPO: HP:0008038
- **Pneumonia por aspiração** — HPO: HP:0011951
- **Acidente vascular cerebral** — HPO: HP:0001297
- **Arreflexia** — HPO: HP:0001284
- **Microcefalia secundária** — HPO: HP:0005484
- **Cegueira** — HPO: HP:0000618
- **Infiltrado inflamatório perivascular dérmico superficial** — HPO: HP:0031190
- **Borda do vermelhão espessa** — HPO: HP:0012471
- _...e mais 326 sintomas. Ver https://raras.org/doenca/ceratodermia-palmoplantar-difusa._

## Genes associados (30)

- **MPZ** — Myelin protein P0 [Candidate gene tested in]
  - Função: Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction
- **GJB2** — Gap junction beta-2 protein [Disease-causing germline mutation(s) in]
  - Função: Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cy
- **LORICRIN** — Loricrin [Disease-causing germline mutation(s) in]
  - Função: Major keratinocyte cell envelope protein
- **CTSC** — Dipeptidyl peptidase 1 [Disease-causing germline mutation(s) in]
  - Função: Thiol protease (PubMed:1586157). Has dipeptidylpeptidase activity (PubMed:1586157). Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids (PubMed:1586
- **KRT16** — Keratin, type I cytoskeletal 16 [Candidate gene tested in]
  - Função: Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barri
- **RSPO1** — R-spondin-1 [Disease-causing germline mutation(s) in]
  - Função: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 an
- **GJB3** — Gap junction beta-3 protein [Disease-causing germline mutation(s) in]
  - Função: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell
- **COG6** — Conserved oligomeric Golgi complex subunit 6 [Disease-causing germline mutation(s) in]
  - Função: Required for normal Golgi function
- **SLURP1** — Secreted Ly-6/uPAR-related protein 1 [Disease-causing germline mutation(s) in]
  - Função: Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layer
- **LSS** — Lanosterol synthase [Candidate gene tested in]
  - Função: Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed
- **TRPM4** — Transient receptor potential cation channel subfamily M member 4 [Disease-causing germline mutation(s) in]
  - Função: Calcium-activated selective cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:12842017, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellula
- **AP1B1** — AP-1 complex subunit beta-1 [Disease-causing germline mutation(s) in]
  - Função: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). The AP complexes mediate b
- **AQP5** — Aquaporin-5 [Disease-causing germline mutation(s) in]
  - Função: Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489)
- **GJB4** — Gap junction beta-4 protein [Disease-causing germline mutation(s) in]
  - Função: Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannel
- **DSG1** — Desmoglein-1 [Candidate gene tested in]
  - Função: Component of intercellular desmosome junctions (PubMed:34368962). Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion (PubMed:19717567)

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome KID](https://raras.org/doenca/sindrome-kid) — ORPHA:477 — 97 sintomas em comum
- [Eritroceratodermia](https://raras.org/doenca/eritroceratodermia) — ORPHA:79355 — 87 sintomas em comum
- [Eritroceratodermia simétrica progressiva](https://raras.org/doenca/316) — ORPHA:316 — 67 sintomas em comum
- [Eritroceratodermia variável tipo Mendes da Costa](https://raras.org/doenca/eritroceratodermia-variavel-tipo-mendes-da-costa) — ORPHA:317 — 67 sintomas em comum
- [Eritroceratodermia variabilis progressiva](https://raras.org/doenca/eritroceratodermia-variabilis-progressiva) — ORPHA:308166 — 67 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 66 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 60 sintomas em comum
- [Epidermólise bolhosa juncional](https://raras.org/doenca/305) — ORPHA:305 — 58 sintomas em comum
- [Ictiose congênita autossômica recessiva](https://raras.org/doenca/ictiose-congenita-autossomica-recessiva) — ORPHA:281097 — 54 sintomas em comum
- [Síndrome Rothmund-Thomson](https://raras.org/doenca/sindrome-rothmund-thomson) — ORPHA:2909 — 52 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Ceratodermia palmoplantar difusa. Disponível em: https://raras.org/doenca/ceratodermia-palmoplantar-difusa
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**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=307141