# Queratodermia palmoplantar hereditária > Página oficial: https://raras.org/doenca/queratodermia-palmoplantar-hereditaria > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 79357 — https://www.orpha.net/en/disease/detail/79357 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Um caso de ceratose palmoplantar causada por uma modificação herdada do genoma do indivíduo. ## Epidemiologia e herança ## Sinais e sintomas (455 fenótipos HPO) - **Calcâneo equino** — HPO: HP:0008138 - **Surdez unilateral** — HPO: HP:0009900 - **Tricorrexe nodosa** — HPO: HP:0009886 - **Contratura em flexão do pododáctilo** — HPO: HP:0005830 - **Depressões ungueais** — HPO: HP:0001803 - **Acroosteólise das falanges distais (pés)** — HPO: HP:0001870 - **Pápula** — HPO: HP:0200034 - **Infecção crônica por tinea** — HPO: HP:0032259 - **Catarata nuclear** — HPO: HP:0100018 - **Meningocele** — HPO: HP:0002435 - **Ausência de cabelo** — HPO: HP:0002298 - **Cicatrização de feridas pobre** — HPO: HP:0001058 - **Perda óssea alveolar ao redor dos dentes** — HPO: HP:0410027 - **Deficiência auditiva neurossensorial congênita** — HPO: HP:0008527 - **Nódulo subcutâneo** — HPO: HP:0001482 - **Cicatrização atípica da pele** — HPO: HP:0000987 - **Deficiência auditiva mista** — HPO: HP:0000410 - **Pelos axilares esparsos** — HPO: HP:0002215 - **Espessamento do tendão** — HPO: HP:0032523 - **Amplitude de movimento diminuída nas articulações interfalângicas** — HPO: HP:0006203 - **Unha côncava** — HPO: HP:0001598 - **Baqueteamento dos dedos** — HPO: HP:0100759 - **Hipotricose generalizada** — HPO: HP:0004528 - **Pelos pubianos esparsos** — HPO: HP:0002225 - **Sobrancelha ausente** — HPO: HP:0002223 - **Pele palmoplantar descamativa** — HPO: HP:0025524 - **Tendão de Aquiles espessado** — HPO: HP:0004690 - **Unhas de crescimento lento** — HPO: HP:0008383 - **Hipopigmentação do cabelo** — HPO: HP:0005599 - **Cabelo do couro cabeludo quebradiço** — HPO: HP:0004779 - **Dermatite atópica** — HPO: HP:0001047 - **Morfologia anormal do umbigo** — HPO: HP:0001551 - **Anormalidade da articulação metacarpofalângica** — HPO: HP:0011911 - **Onicomicose** — HPO: HP:0012203 - **Acrocianose** — HPO: HP:0001063 - **Cisto de pelo vellus eruptivo** — HPO: HP:0025248 - **Displasia ungueal** — HPO: HP:0100798 - **Dor no membro inferior** — HPO: HP:0012514 - **Aplasia/Hipoplasia da sobrancelha** — HPO: HP:0100840 - **Neoplasia ovariana** — HPO: HP:0100615 - _...e mais 415 sintomas. Ver https://raras.org/doenca/queratodermia-palmoplantar-hereditaria._ ## Genes associados (42) - **DSG1** — Desmoglein-1 [Disease-causing germline mutation(s) 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) - **COL14A1** — Collagen alpha-1(XIV) chain [Candidate gene tested in] - Função: Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks - **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 - **MT-TS1** [Candidate gene tested in] - **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 - **KRT6A** — Keratin, type II cytoskeletal 6A [Disease-causing germline mutation(s) in] - Função: Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or - **MBTPS2** — Membrane-bound transcription factor site-2 protease [Disease-causing germline mutation(s) in] - Função: Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the prote - **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 - **GRHL2** — Grainyhead-like protein 2 homolog [Disease-causing germline mutation(s) in] - Função: Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:25152456, PubMed:29309642). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acti - **SNAP29** — Synaptosomal-associated protein 29 [Disease-causing germline mutation(s) in] - Função: SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans - **KRT83** — Keratin, type II cuticular Hb3 [Disease-causing germline mutation(s) in] - **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 - **GJB6** — Gap junction beta-6 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 - **WNT10A** — Protein Wnt-10a [Disease-causing germline mutation(s) in] - Função: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm de - **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) ## Doenças relacionadas (por similaridade fenotípica) - [Queratodermia palmoplantar focal](https://raras.org/doenca/queratodermia-palmoplantar-focal) — ORPHA:307837 — 105 sintomas em comum - [Síndrome KID](https://raras.org/doenca/sindrome-kid) — ORPHA:477 — 97 sintomas em comum - [Eritroceratodermia](https://raras.org/doenca/eritroceratodermia) — ORPHA:79355 — 90 sintomas em comum - [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 71 sintomas em comum - [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 68 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 - [Eritroceratodermia simétrica progressiva](https://raras.org/doenca/316) — ORPHA:316 — 67 sintomas em comum - [Epidermólise bolhosa juncional](https://raras.org/doenca/305) — ORPHA:305 — 67 sintomas em comum - [Ictiose congênita autossômica recessiva](https://raras.org/doenca/ictiose-congenita-autossomica-recessiva) — ORPHA:281097 — 58 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. --- **Citação sugerida**: Raras.org — Queratodermia palmoplantar hereditária. Disponível em: https://raras.org/doenca/queratodermia-palmoplantar-hereditaria **Formato HTML**: https://raras.org/doenca/queratodermia-palmoplantar-hereditaria **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=79357