# Linfoma cutâneo primário

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

## Identificadores

- **ORPHA**: 542 — https://www.orpha.net/en/disease/detail/542
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um grupo raro de linfomas primários específicos de órgão, caracterizados por linfomas não-Hodgkin heterogéneos de células T e B presentes na pele. As características clínicas e patológicas, o perfil evolutivo, o prognóstico, a etiologia molecular e a resposta à terapêutica são altamente variáveis ​​entre as entidades clínicas pertencentes a este grupo.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000

## Sinais e sintomas (69 fenótipos HPO)

- **Tremor** — HPO: HP:0001337
- **Placa eritematosa** — HPO: HP:0025474
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **Pápula eritematosa** — HPO: HP:0030350
- **Anormalidade da cascata de coagulação** — HPO: HP:0003256
- **Fadiga** — HPO: HP:0012378
- **Atrofia cutânea difusa** — HPO: HP:0007488
- **Mácula eritematosa** — HPO: HP:0025475
- **Poiquilodermia** — HPO: HP:0001029
- **Suores noturnos** — HPO: HP:0030166
- **Perda de peso** — HPO: HP:0001824
- **Úlcera cutânea** — HPO: HP:0200042
- **Morfologia anormal da pálpebra** — HPO: HP:0000492
- **Manchas cutâneas hipopigmentadas** — HPO: HP:0001053
- **Erupção cutânea** — HPO: HP:0000988
- **Morfologia anormal das células da medula óssea** — HPO: HP:0005561
- **Morfologia anormal da unha** — HPO: HP:0001597
- **Hiperceratose** — HPO: HP:0000962
- **Hiperpigmentação irregular** — HPO: HP:0007400
- **Linfoma** — HPO: HP:0002665
- **Linfoma de Hodgkin** — HPO: HP:0012189
- **Pele rígida** — HPO: HP:0030053
- **Nefrocalcinose** — HPO: HP:0000121
- **Hipercalcemia** — HPO: HP:0003072
- **Cutis laxa** — HPO: HP:0000973
- **Eritema** — HPO: HP:0010783
- **Lesão renal aguda** — HPO: HP:0001919
- **Pele redundante** — HPO: HP:0001582
- **Dermatite psoriasiforme** — HPO: HP:0003765
- **Neoplasia da pele** — HPO: HP:0008069
- **Dermatite eczematoide** — HPO: HP:0000964
- **Prurido** — HPO: HP:0000989
- **Placa cutânea** — HPO: HP:0200035
- **Linfadenopatia** — HPO: HP:0002716
- **Anormalidade dos linfonodos** — HPO: HP:0002733
- **Autoimunidade** — HPO: HP:0002960
- **Edema facial** — HPO: HP:0000282
- **Hemofagocitose** — HPO: HP:0012156
- **Anemia** — HPO: HP:0001903
- **Pancitopenia** — HPO: HP:0001876
- _...e mais 29 sintomas. Ver https://raras.org/doenca/linfoma-cutaneo-primario._

## Genes associados (6)

- **HAVCR2** — Hepatitis A virus cellular receptor 2 [Disease-causing germline mutation(s) in]
  - Função: Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may b
- **TNFRSF1B** — Tumor necrosis factor receptor superfamily member 1B [Candidate gene tested in]
  - Função: Receptor with high affinity for TNFSF2/TNF and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3
- **CD28** — T-cell-specific surface glycoprotein CD28 [Candidate gene tested in]
  - Função: Receptor that plays a role in T-cell activation, proliferation, survival and the maintenance of immune homeostasis (PubMed:1650475, PubMed:7568038). Functions not only as an amplifier of TCR signals b
- **CTLA4** — Cytotoxic T-lymphocyte protein 4 [Candidate gene tested in]
  - Função: Inhibitory receptor acting as a major negative regulator of T-cell responses (PubMed:11279501, PubMed:11279502, PubMed:16551244, PubMed:1714933, PubMed:18641304, PubMed:28484017). Acts as a decoy rece
- **NPM1** — Nucleophosmin [Candidate gene tested in]
  - Função: Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and
- **TYK2** — Non-receptor tyrosine-protein kinase TYK2 [Candidate gene tested in]
  - Função: Tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity (PubMed:105422

## Medicamentos em desenvolvimento (5)

- BEXAROTENE — Fase Phase 4 (Retinoid X receptor agonist)
- DENILEUKIN DIFTITOX — Fase Phase 4 (Interleukin-2 receptor binding agent)
- ROMIDEPSIN — Fase Phase 4 (Histone deacetylase inhibitor)
- VORINOSTAT — Fase Phase 4 (Histone deacetylase 6 inhibitor)
- MOGAMULIZUMAB — Fase Phase 4 (C-C chemokine receptor type 4 cross-linking agent)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018898

## Ensaios clínicos ativos (8)

- **NCT05544968** [RECRUITING]: Anti-CD30 biAb-AATC in Patients With Relapsed/Refractory CD30 Positive Hematopoietic Malignancies — https://clinicaltrials.gov/study/NCT05544968
- **NCT04670874** [RECRUITING]: Quality of Life in Cutaneous Lymphoma Patients Using the Skindex29 — https://clinicaltrials.gov/study/NCT04670874
- **NCT00177268** [RECRUITING]: Blood, Urine, and Tissue Collection for Cutaneous Lymphoma, Eczema, and Atopic Dermatitis Research — https://clinicaltrials.gov/study/NCT00177268
- **NCT05518851** [RECRUITING]: TreAtments and outComes in paTients With prImary CutAneous Lymphoma — https://clinicaltrials.gov/study/NCT05518851
- **NCT01352520** [ACTIVE_NOT_RECRUITING]: SGN-35 in CD30-positive Lymphoproliferative Disorders (ALCL), Mycosis Fungoides (MF), and Extensive Lymphomatoid Papulosis (LyP) — https://clinicaltrials.gov/study/NCT01352520
- **NCT03602157** [ACTIVE_NOT_RECRUITING]: Study of CAR-T Cells Expressing CD30 and CCR4 for r/r CD30+ HL and CTCL — https://clinicaltrials.gov/study/NCT03602157
- **NCT07538960** [NOT_YET_RECRUITING]: Epidemiology and Management of Cutaneous T-Cell Lymphoma at Hospital México, Costa Rica. — https://clinicaltrials.gov/study/NCT07538960
- **NCT04520529** [NOT_YET_RECRUITING]: Identification of Prognostic Factors and New Therapeutic Targets in Cutaneous Lymphomas — https://clinicaltrials.gov/study/NCT04520529
- **NCT05106192** [WITHDRAWN]: Triamcinolone Acetonide Injections in Primary Cutaneous Lymphoma Plaques With a Novel Needle-free Drug-delivery System. — https://clinicaltrials.gov/study/NCT05106192
- **NCT03192202** [COMPLETED]: AFM13 in Relapsed/Refractory Cutaneous Lymphomas — https://clinicaltrials.gov/study/NCT03192202

## Doenças relacionadas (por similaridade fenotípica)

- [Linfoma órgão-específico primário](https://raras.org/doenca/linfoma-orgao-especifico-primario) — ORPHA:279911 — 69 sintomas em comum
- [Linfoma maligno não-Hodgkin](https://raras.org/doenca/linfoma-maligno-nao-hodgkin) — ORPHA:547 — 56 sintomas em comum
- [Linfoma cutâneo de células T, indolente](https://raras.org/doenca/linfoma-cutaneo-de-celulas-t-indolente) — ORPHA:178548 — 54 sintomas em comum
- [Linfoma não-Hodgkin de células T](https://raras.org/doenca/linfoma-nao-hodgkin-de-celulas-t) — ORPHA:171918 — 54 sintomas em comum
- [Linfoma cutâneo de células T](https://raras.org/doenca/linfoma-cutaneo-de-celulas-t) — ORPHA:171901 — 54 sintomas em comum
- [Micose fungoide e variantes](https://raras.org/doenca/micose-fungoide-e-variantes) — ORPHA:178566 — 38 sintomas em comum
- [Micose fungoide clássica](https://raras.org/doenca/micose-fungoide-classica) — ORPHA:2584 — 30 sintomas em comum
- [Síndrome Sezary](https://raras.org/doenca/sindrome-sezary) — ORPHA:3162 — 29 sintomas em comum
- [Linfoma de células T, paniculite subcutânea-like](https://raras.org/doenca/linfoma-de-celulas-t-paniculite-subcutanea-like) — ORPHA:86884 — 20 sintomas em comum
- [Síndrome Omenn](https://raras.org/doenca/sindrome-omenn) — ORPHA:39041 — 20 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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