# Epidermólise bolhosa hereditária > Página oficial: https://raras.org/doenca/epidermolise-bolhosa-hereditaria > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-06-08 ## Identificadores - **ORPHA**: 79361 — https://www.orpha.net/en/disease/detail/79361 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica A epidermólise bolhosa hereditária (EB) engloba determinadas doenças caracterizadas pela formação de bolhas recorrentes e que resultam da fragilidade estrutural da pele e de outros tecidos em particular. ## Epidemiologia e herança - **Prevalência**: 1-9 / 1 000 000 - **Padrão de herança**: Autosomal dominant, Autosomal recessive ## Sinais e sintomas (443 fenótipos HPO) - **Cílios esparsos** — HPO: HP:0000653 - **Ectopia lentis** — HPO: HP:0001083 - **Miopia** — HPO: HP:0000545 - **Filtro curto** — HPO: HP:0000322 - **Prognatismo mandibular** — HPO: HP:0000303 - **Anormalidade da face** — HPO: HP:0000271 - **Displasia ungueal** — HPO: HP:0100798 - **Displasia da unha do pé** — HPO: HP:0100797 - **Comprometimento cognitivo** — HPO: HP:0100543 - **Agenesia dentária** — HPO: HP:0009804 - **Unhas dos artelhos hipoplásicas** — HPO: HP:0001800 - **Diarreia crônica** — HPO: HP:0002028 - **Morfologia dentária anormal** — HPO: HP:0006482 - **Hipo-hidrose** — HPO: HP:0000966 - **Hiperceratose folicular** — HPO: HP:0007502 - **Lábio rachado** — HPO: HP:0040181 - **Pneumonia recorrente** — HPO: HP:0006532 - **Distúrbio da marcha** — HPO: HP:0001288 - **Anormalidade da cabeça ou pescoço** — HPO: HP:0000152 - **Peso corporal diminuído** — HPO: HP:0004325 - **Pelos pubianos esparsos** — HPO: HP:0002225 - **Morfologia anormal da língua** — HPO: HP:0030809 - **Aumento do nível circulante de IgE** — HPO: HP:0003212 - **Ferro sérico diminuído** — HPO: HP:0040303 - **Atrofia do músculo esquelético** — HPO: HP:0003202 - **Alopecia atrófica e em placas** — HPO: HP:0004529 - **Anormalidade do antebraço** — HPO: HP:0002973 - **Nódulo subcutâneo** — HPO: HP:0001482 - **Anormalidade do punho** — HPO: HP:0003019 - **Concentração diminuída de carnitina circulante** — HPO: HP:0003234 - **Anormalidade da cor dentária** — HPO: HP:0011073 - **Fístula anoperineal** — HPO: HP:0005218 - **Liquenificação** — HPO: HP:0100725 - **Tecido de granulação exuberante** — HPO: HP:6000956 - **Morfologia anormal da região periungueal** — HPO: HP:0100803 - **Estenose subglótica** — HPO: HP:0001607 - **Deficiência visual** — HPO: HP:0000505 - **Ulceração corneana** — HPO: HP:0012804 - **Anormalidade do osso do quadril** — HPO: HP:0003272 - **Pigmentação anormal da mucosa oral** — HPO: HP:0100669 - _...e mais 403 sintomas. Ver https://raras.org/doenca/epidermolise-bolhosa-hereditaria._ ## Genes associados (20) - **COL7A1** — Collagen alpha-1(VII) chain [Disease-causing germline mutation(s) in] - Função: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular - **MMP1** — Interstitial collagenase [Candidate gene tested in] - Função: Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X (PubMed:1645757, PubMed:2153297, PubMed:2557822). In case of HIV infection, inter - **JUP** — Junction plakoglobin [Candidate gene tested in] - Função: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and t - **COL17A1** — Collagen alpha-1(XVII) chain [Disease-causing germline mutation(s) in] - Função: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane The 120 kDa linear IgA disease antigen is an anchoring filament componen - **DSP** — Desmoplakin [Disease-causing germline mutation(s) in] - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25733715). Critical for cell-cell adhesion in early stage blastocysts and progressi - **EXPH5** — Exophilin-5 [Disease-causing germline mutation(s) in] - Função: May act as Rab effector protein and play a role in vesicle trafficking - **ITGB4** — Integrin beta-4 [Disease-causing germline mutation(s) in] - Função: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA - **CD151** — CD151 antigen [Disease-causing germline mutation(s) in] - Função: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays a role in various cell - **KLHL24** — Kelch-like protein 24 [Disease-causing germline mutation(s) in] - Função: Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin lig - **DST** — Dystonin [Disease-causing germline mutation(s) in] - Função: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleto - **FERMT1** — Fermitin family homolog 1 [Disease-causing germline mutation(s) in] - Função: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polari - **ITGA6** — Integrin alpha-6 [Disease-causing germline mutation(s) in] - Função: Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By simila - **LAMC2** — Laminin subunit gamma-2 [Disease-causing germline mutation(s) in] - Função: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext - **LAMA3** — Laminin subunit alpha-3 [Disease-causing germline mutation(s) in] - Função: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext - **KRT14** — Keratin, type I cytoskeletal 14 [Disease-causing germline mutation(s) in] - Função: The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filam ## Medicamentos em desenvolvimento (9) - IPRATROPIUM BROMIDE — Fase Phase 3 (Muscarinic acetylcholine receptor M3 antagonist) - CARBIDOPA — Fase Phase 3 (DOPA decarboxylase inhibitor) - CARBIDOPA ANHYDROUS — Fase Phase 3 (DOPA decarboxylase inhibitor) - IPRATROPIUM — Fase Phase 3 (Muscarinic acetylcholine receptor M3 antagonist) - ALBUTEROL — Fase Phase 3 (Beta-2 adrenergic receptor agonist) - ABOBOTULINUMTOXINA — Fase Phase 2 (Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor) - DEXMEDETOMIDINE — Fase Phase 2 (Adrenergic receptor alpha-2 agonist) - SOMATROPIN — Fase Phase 2 (Growth hormone receptor agonist) - THEOPHYLLINE ANHYDROUS — Fase Phase 2 (Phosphodiesterase 4 inhibitor) - Fonte: https://platform.opentargets.org/disease/MONDO_0019276 ## Ensaios clínicos ativos (1) - **NCT05954416** [RECRUITING]: FARD (RaDiCo Cohort) (RaDiCo-FARD) — https://clinicaltrials.gov/study/NCT05954416 - **NCT03068780** [COMPLETED]: Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa — https://clinicaltrials.gov/study/NCT03068780 - **NCT05033574** [UNKNOWN]: The State of Sexual Development in Children With Inherited Epidermolysis Bullosa — https://clinicaltrials.gov/study/NCT05033574 - **NCT03468322** [COMPLETED]: A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients — https://clinicaltrials.gov/study/NCT03468322 - **NCT01294241** [COMPLETED]: Oleogel-S10 in Wound Healing of Inherited Epidermolysis Bullosa (BEB-10) — https://clinicaltrials.gov/study/NCT01294241 ## Doenças relacionadas (por similaridade fenotípica) - [Epidermólise bolhosa juncional](https://raras.org/doenca/305) — ORPHA:305 — 178 sintomas em comum - [Epidermólise bolhosa distrófica](https://raras.org/doenca/303) — ORPHA:303 — 132 sintomas em comum - [Epidermólise bolhosa Kindler](https://raras.org/doenca/2908) — ORPHA:2908 — 91 sintomas em comum - [Epidermólise bolhosa distrófica generalizada autossômica recessiva, forma grave](https://raras.org/doenca/epidermolise-bolhosa-distrofica-generalizada-autossomica-recessiva-forma-grave) — ORPHA:79408 — 72 sintomas em comum - [Epidermólise bolhosa juncional generalizada grave](https://raras.org/doenca/epidermolise-bolhosa-juncional-generalizada-grave) — ORPHA:79404 — 69 sintomas em comum - [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 65 sintomas em comum - [Síndrome Rothmund-Thomson](https://raras.org/doenca/sindrome-rothmund-thomson) — ORPHA:2909 — 56 sintomas em comum - [Síndrome ictiose folicular-alopecia-fotofobia](https://raras.org/doenca/sindrome-ictiose-folicular-alopecia-fotofobia) — ORPHA:2273 — 55 sintomas em comum - [Dermatose tóxica](https://raras.org/doenca/dermatose-toxica) — ORPHA:293815 — 53 sintomas em comum - [Queratodermia palmoplantar focal](https://raras.org/doenca/queratodermia-palmoplantar-focal) — ORPHA:307837 — 53 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 — Epidermólise bolhosa hereditária. Disponível em: https://raras.org/doenca/epidermolise-bolhosa-hereditaria **Formato HTML**: https://raras.org/doenca/epidermolise-bolhosa-hereditaria **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=79361