# Xeroderma pigmentoso

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

## Identificadores

- **ORPHA**: 910 — https://www.orpha.net/en/disease/detail/910
- **CID-10**: Q82.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A xerodermia pigmentosa (XP) é uma genodermatose rara, caracterizada por sensibilidade extrema à radiação ultravioleta (UV) induzida por alterações na pele e olhos, e múltiplos cancros da pele. Subdivide-se em 8 grupos de complementação, de acordo com o gene afetado: XPA a XPG, e XP variante (XPV) (ver estes termos).

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (111 fenótipos HPO)

- **Febre** — HPO: HP:0001945 (Muito frequente (99-80%))
- **Hiperpigmentação da pele** — HPO: HP:0000953
- **Sardas em áreas expostas ao sol** — HPO: HP:0007603
- **Telangiectasia cutânea** — HPO: HP:0034697
- **Ceratose actínica** — HPO: HP:0025127
- **Hipopigmentação da pele** — HPO: HP:0001010
- **Pequeno para a idade gestacional** — HPO: HP:0001518
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Espasmos infantis** — HPO: HP:0012469
- **Velocidade de condução nervosa diminuída** — HPO: HP:0000762
- **Atrofia cerebelar** — HPO: HP:0001272
- **Atraso de crescimento** — HPO: HP:0001510
- **Pé cavo** — HPO: HP:0001761
- **Comprometimento sensorial distal** — HPO: HP:0002936
- **Nevo epidérmico verrucoso** — HPO: HP:0034275
- **Pápula eritematosa** — HPO: HP:0030350
- **Conjuntivite** — HPO: HP:0000509
- **Deterioração mental** — HPO: HP:0001268
- **Hiporreflexia** — HPO: HP:0001265
- **Coreoatetose** — HPO: HP:0001266
- **Neovascularização corneana** — HPO: HP:0011496
- **Microftalmia** — HPO: HP:0000568
- **Mielinização anormal do SNC** — HPO: HP:0011400
- **Carcinoma de células escamosas da pele** — HPO: HP:0006739
- **Aumento da sensibilidade celular à luz UV** — HPO: HP:0003224
- **Ceratoconjuntivite seca** — HPO: HP:0001097
- **Hiperreflexia** — HPO: HP:0001347
- **Melanoma cutâneo** — HPO: HP:0012056
- **Retinopatia pigmentar** — HPO: HP:0000580
- **Ventriculomegalia** — HPO: HP:0002119
- **Calcificação dos gânglios da base** — HPO: HP:0002135
- **Aparência facial progeroide** — HPO: HP:0005328
- **Olho profundamente inserido** — HPO: HP:0000490
- **Carcinoma basocelular** — HPO: HP:0002671
- **Reparo defeituoso do DNA após dano por radiação ultravioleta** — HPO: HP:0003079
- **Pápula** — HPO: HP:0200034
- **Ceratoacantoma** — HPO: HP:0031525
- **Escoliose** — HPO: HP:0002650
- **Atrofia cerebral** — HPO: HP:0012444
- **Numerosas sardas pigmentadas** — HPO: HP:0007587
- _...e mais 71 sintomas. Ver https://raras.org/doenca/xeroderma-pigmentoso._

## Genes associados (8)

- **ERCC3** — General transcription and DNA repair factor IIH helicase/translocase subunit XPB [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather th
- **POLH** — DNA polymerase eta [Disease-causing germline mutation(s) in]
  - Função: DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:16357261, PubMed:20388628, PubMed:24449906, PubMed:24553286, PubMed:3821
- **DDB2** — DNA damage-binding protein 2 [Disease-causing germline mutation(s) in]
  - Função: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:1170
- **XPC** — DNA repair protein complementing XP-C cells [Disease-causing germline mutation(s) in]
  - Função: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex (PubMed:10734143, PubMed:10873465, PubMed:12509299, PubMed
- **ERCC5** — DNA excision repair protein ERCC-5 [Disease-causing germline mutation(s) in]
  - Função: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair (PubMed:32522879, PubMed:32821917, PubMed:7651464, PubMed:8078765, PubMed:8090225, PubMed:8206890). Makes the 3'inci
- **XPA** — DNA repair protein complementing XP-A cells [Disease-causing germline mutation(s) in]
  - Função: Involved in DNA nucleotide excision repair (NER). Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Requi
- **ERCC4** — DNA repair endonuclease XPF [Disease-causing germline mutation(s) in]
  - Função: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand
- **ERCC2** — General transcription and DNA repair factor IIH helicase subunit XPD [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent 5'-3' DNA helicase (PubMed:31253769, PubMed:8413672, PubMed:9771713). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for

## Ensaios clínicos ativos (2)

- **NCT05484570** [RECRUITING]: Natural History Study for DNA Repair Disorders — https://clinicaltrials.gov/study/NCT05484570
- **NCT06330324** [ENROLLING_BY_INVITATION]: Reproductive Options in Inherited Skin Diseases — https://clinicaltrials.gov/study/NCT06330324
- **NCT00001813** [COMPLETED]: Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy — https://clinicaltrials.gov/study/NCT00001813
- **NCT04500548** [WITHDRAWN]: Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study — https://clinicaltrials.gov/study/NCT04500548
- **NCT00046189** [COMPLETED]: Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum — https://clinicaltrials.gov/study/NCT00046189
- **NCT05370235** [UNKNOWN]: A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum C and V — https://clinicaltrials.gov/study/NCT05370235
- **NCT05159752** [UNKNOWN]: A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum (XP) — https://clinicaltrials.gov/study/NCT05159752
- **NCT03445052** [COMPLETED]: XPAND Trial: Enhancing XP Photoprotection Activities - New Directions — https://clinicaltrials.gov/study/NCT03445052
- **NCT01123694** [UNKNOWN]: Xeroderma Pigmentosum Patient Experiences — https://clinicaltrials.gov/study/NCT01123694
- **NCT00555633** [COMPLETED]: Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients — https://clinicaltrials.gov/study/NCT00555633

## Doenças relacionadas (por similaridade fenotípica)

- [Complexo xeroderma pigmentoso/síndrome de Cockayne](https://raras.org/doenca/complexo-xeroderma-pigmentososindrome-de-cockayne) — ORPHA:220295 — 66 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 42 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 37 sintomas em comum
- [Síndrome Cockayne tipo 1](https://raras.org/doenca/sindrome-cockayne-tipo-1) — ORPHA:90321 — 34 sintomas em comum
- [Síndrome COFS](https://raras.org/doenca/sindrome-cofs) — ORPHA:1466 — 34 sintomas em comum
- [Síndrome ictiose folicular-alopecia-fotofobia](https://raras.org/doenca/sindrome-ictiose-folicular-alopecia-fotofobia) — ORPHA:2273 — 33 sintomas em comum
- [Síndrome Rothmund-Thomson](https://raras.org/doenca/sindrome-rothmund-thomson) — ORPHA:2909 — 33 sintomas em comum
- [Síndrome Galloway-Mowat](https://raras.org/doenca/sindrome-galloway-mowat) — ORPHA:2065 — 33 sintomas em comum
- [Eritroceratodermia](https://raras.org/doenca/eritroceratodermia) — ORPHA:79355 — 30 sintomas em comum
- [Síndrome Cockayne tipo 2](https://raras.org/doenca/sindrome-cockayne-tipo-2) — ORPHA:90322 — 29 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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