# Displasia ectodérmica hipohidrótica

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

## Identificadores

- **ORPHA**: 238468 — https://www.orpha.net/en/disease/detail/238468
- **CID-10**: Q82.4
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Distúrbio genético do desenvolvimento do ectoderma caracterizado pela malformação das estruturas ectodérmicas, como pele, cabelo, dentes e glândulas sudoríparas. Compreende três subtipos clinicamente quase indistinguíveis com sudorese prejudicada como sintoma principal: síndrome de Christ-Siemens-Touraine (CST) (ligada ao X), HED autossômica recessiva (AR) e autossômica dominante (AD), bem como um quarto subtipo raro com imunodeficiência como sintoma principal (HED com imunodeficiência).

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (136 fenótipos HPO)

- **Anodontia** — HPO: HP:0000674
- **Nível diminuído de IgA circulante** — HPO: HP:0002720
- **Aumento da contagem de linfócitos T** — HPO: HP:0100828
- **Ausência de linfonodos periféricos na presença de infecção** — HPO: HP:0033581
- **Infecções micobacterianas recorrentes** — HPO: HP:0011274
- **Distrofia ungueal** — HPO: HP:0008404
- **Nível anormal de imunoglobulina** — HPO: HP:0010701
- **Atraso de crescimento** — HPO: HP:0001510
- **Hipopituitarismo** — HPO: HP:0040075
- **Infecção viral grave** — HPO: HP:0031691
- **Edema genital** — HPO: HP:0031188
- **Infecção fúngica invasiva** — HPO: HP:0020101
- **Sinusite recorrente** — HPO: HP:0011108
- **Edema pedal** — HPO: HP:0010741
- **Dificuldades alimentares na infância** — HPO: HP:0008872
- **Aumento do nível circulante de IgG** — HPO: HP:0003237
- **Aumento do nível circulante de IgE** — HPO: HP:0003212
- **Autoimunidade** — HPO: HP:0002960
- **IgM total circulante diminuída** — HPO: HP:0002850
- **Candidíase mucocutânea crônica** — HPO: HP:0002728
- **Inflamação do intestino grosso** — HPO: HP:0002037
- **Otite média recorrente** — HPO: HP:0000403
- **Hipertermia maligna** — HPO: HP:0002047
- **Anormalidade da pigmentação da pele** — HPO: HP:0001000
- **Nível diminuído de IgG circulante** — HPO: HP:0004315
- **Nível diminuído de anticorpos circulantes** — HPO: HP:0004313
- **Osteopenia** — HPO: HP:0000938
- **Aumento da contagem de linfócitos B** — HPO: HP:0005404
- **Diabetes mellitus tipo 1** — HPO: HP:0100651
- **Hipertensão** — HPO: HP:0000822
- **Falange distal do dedo curta** — HPO: HP:0009882
- **Hipopituitarismo anterior** — HPO: HP:0000830
- **Dorso nasal deprimido** — HPO: HP:0000457
- **Erupção atrasada dos dentes** — HPO: HP:0000684
- **Hipoplasia dos dentes** — HPO: HP:0000685
- **Morfologia anormal da unha do pé** — HPO: HP:0008388
- **Perda prematura de dentes decíduos** — HPO: HP:0006323
- **Alopecia** — HPO: HP:0001596
- **Anormalidade do cabelo** — HPO: HP:0001595
- **Morfologia anormal da unha** — HPO: HP:0001231
- _...e mais 96 sintomas. Ver https://raras.org/doenca/displasia-ectodermica-hipohidrotica._

## Genes associados (11)

- **EDA** — Ectodysplasin-A [Disease-causing germline mutation(s) in]
  - Função: Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:
- **CSTB** — Cystatin-B [Candidate gene tested in]
  - Função: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B
- **WNT10A** — Protein Wnt-10a [Candidate gene tested 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
- **LRP6** — Low-density lipoprotein receptor-related protein 6 [Candidate gene tested in]
  - Função: Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:1144
- **EDA2R** — Tumor necrosis factor receptor superfamily member 27 [Candidate gene tested in]
  - Função: Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6
- **KDF1** — Keratinocyte differentiation factor 1 [Candidate gene tested in]
  - Função: Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell
- **TRAF6** — TNF receptor-associated factor 6 [Candidate gene tested in]
  - Função: E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as ECSIT, IKBKG, IRAK1, AKT1 and AKT2 (PubMed:1105
- **NFKBIA** — NF-kappa-B inhibitor alpha [Disease-causing germline mutation(s) in]
  - Função: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:3665180
- **EDARADD** — Ectodysplasin-A receptor-associated adapter protein [Disease-causing germline mutation(s) in]
  - Função: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B
- **EDAR** — Tumor necrosis factor receptor superfamily member EDAR [Disease-causing germline mutation(s) in]
  - Função: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death
- **IKBKG** — NF-kappa-B essential modulator [Disease-causing germline mutation(s) in]
  - Função: Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhi

## Ensaios clínicos ativos (2)

- **NCT04980638** [RECRUITING]: Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia — https://clinicaltrials.gov/study/NCT04980638
- **NCT07096206** [ACTIVE_NOT_RECRUITING]: Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study — https://clinicaltrials.gov/study/NCT07096206
- **NCT05378932** [COMPLETED]: Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia — https://clinicaltrials.gov/study/NCT05378932
- **NCT01135888** [COMPLETED]: Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia — https://clinicaltrials.gov/study/NCT01135888
- **NCT04741412** [COMPLETED]: Pediatric SARS-CoV-2 Infections: Course of COVID-19, Immune Responses, Complications and Long-term Consequences — https://clinicaltrials.gov/study/NCT04741412
- **NCT01992289** [UNKNOWN]: Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 — https://clinicaltrials.gov/study/NCT01992289
- **NCT02099552** [COMPLETED]: Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia — https://clinicaltrials.gov/study/NCT02099552
- **NCT01775462** [COMPLETED]: Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) — https://clinicaltrials.gov/study/NCT01775462
- **NCT01308333** [COMPLETED]: Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia — https://clinicaltrials.gov/study/NCT01308333
- **NCT01871714** [COMPLETED]: Phenotypic Properties in Individuals Affected With XLHED — https://clinicaltrials.gov/study/NCT01871714

## Doenças relacionadas (por similaridade fenotípica)

- [Displasia ectodérmica hipohidrótica com imunodeficiência](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-com-imunodeficiencia) — ORPHA:98813 — 58 sintomas em comum
- [Displasia ectodérmica hipohidrótica ligada ao X](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-ligada-ao-x) — ORPHA:181 — 52 sintomas em comum
- [Displasia ectodérmica hipohidrótica autossômica recessiva](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-autossomica-recessiva) — ORPHA:248 — 39 sintomas em comum
- [Displasia ectodérmica hipohidrótica autossômica dominante](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-autossomica-dominante) — ORPHA:1810 — 32 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 29 sintomas em comum
- [Imunodeficiência combinada grave T-B+](https://raras.org/doenca/imunodeficiencia-combinada-grave-t-b-orpha-317416) — ORPHA:317416 — 29 sintomas em comum
- [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 28 sintomas em comum
- [Síndrome linfoproliferativo autoimune](https://raras.org/doenca/sindrome-linfoproliferativo-autoimune) — ORPHA:3261 — 27 sintomas em comum
- [Síndrome Rothmund-Thomson](https://raras.org/doenca/sindrome-rothmund-thomson) — ORPHA:2909 — 26 sintomas em comum
- [Síndrome EEC](https://raras.org/doenca/sindrome-eec) — ORPHA:1896 — 26 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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