Congenital Epulis (Congenital Granular Cell Epulis; Neumann Tumor): Disease Characteristics Research Report
Target disease: Congenital epulis (also called congenital granular cell epulis, congenital gingival granular cell tumor, Neumann tumor) — a rare, benign, neonatal oral soft-tissue tumor-like lesion arising on the gingiva/alveolar ridge, typically present at birth and sometimes detectable prenatally. (han2024fromprenataldiagnosis pages 1-3, mcguire2006pratiqueclinique pages 1-3)
Executive summary (current understanding)
Congenital epulis/congenital granular cell epulis (CGCE) is a benign lesion exclusive to the newborn period, most often on the anterior maxillary alveolar ridge, with a marked female predominance. Etiology/histogenesis remains uncertain; hypotheses span pericytic/fibroblastic/histiocytic/nerve-related or undifferentiated mesenchymal origins, and many authors discuss potential intrauterine hormonal influence (estrogen exposure) to explain both sex bias and postnatal growth arrest/spontaneous regression. Diagnosis is clinicopathologic, supported by characteristic granular-cell histology and a typical immunophenotype (often vimentin-positive, S-100 negative), though recent cases document immunohistochemical variability (e.g., weak S-100/CD68 positivity) and Ki-67 around 15% in at least one case. Primary management is local surgical excision when feeding/airway function is threatened; prognosis is excellent with negligible recurrence and no malignant transformation reported in the retrieved sources. (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3, mcguire2006pratiqueclinique pages 1-3)
1. Disease information
1.1 Definition / overview
- Definition: A rare benign lesion of the neonatal gingiva/alveolar ridge, presenting as a sessile or pedunculated oral mass at birth, potentially causing feeding difficulty and (less commonly) airway compromise. (chaudhry2024congenitalepulisreport pages 1-2, mcguire2006pratiqueclinique pages 1-3)
- Exclusivity to neonatal period: Described as occurring “exclusively” in newborns in recent reports. (han2024fromprenataldiagnosis pages 1-3)
1.2 Key identifiers (controlled vocabularies)
- MeSH (explicit in retrieved literature): gingival neoplasms/complications; gingival neoplasms/congenital; granular cell tumor/congenital; infant, newborn. (mcguire2006pratiqueclinique pages 1-3)
- WHO terminology: A 2024 case report states that “congenital granular cell epulis” is the term used by WHO. (oriaifo2024congenitalepulisin pages 1-3)
- ICD-10/ICD-11 / SNOMED CT / MONDO / Orphanet / OMIM: No explicit codes/IDs were found in the retrieved sources used for this report (therefore not assigned here). (mcguire2006congenitalepulisa pages 3-4, braz2022épuliscongénito pages 1-3)
1.3 Synonyms / alternative names
Common synonyms include: - congenital granular cell epulis (CGCE) - congenital epulis - congenital gingival granular cell tumor - congenital granular cell myoblastoma - Neumann (Newmann) tumor
These are explicitly used in 2024 case literature. (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3)
1.4 Evidence source type
The evidence base is dominated by case reports/series and small retrospective pathology datasets; high-quality population registries and mechanistic molecular studies are limited in the retrieved set. (shuhairi2021aretrospectiveanalysis pages 1-2, han2024fromprenataldiagnosis pages 1-3)
2. Etiology
2.1 Disease causal factors
- Etiology remains unknown/controversial. Multiple origin hypotheses are enumerated in 2024 work: pericyte, fibroblast, histiocyte, nerve-related, and undifferentiated mesenchymal cells. (han2024fromprenataldiagnosis pages 1-3)
- An older peer-reviewed dental report describes histogenesis as uncertain and suggests a “non-neoplastic, degenerative or reactive lesion.” (mcguire2006congenitalepulisa pages 3-4)
2.2 Risk factors
- Sex (female): Strong female predominance is repeatedly reported (see epidemiology). (han2024fromprenataldiagnosis pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3)
- In utero hormonal exposure hypothesis: A 2024 prenatal/postnatal management report states that the “prevailing theory” attributes pathogenesis to intrauterine exposure to estrogen and proposes that postpartum hormonal decline may halt growth, with rare spontaneous regression. (qin2024aclinicalobservation pages 1-2)
2.3 Protective factors
No genetic or environmental protective factors were identified in the retrieved literature.
2.4 Gene–environment interactions
No gene–environment interaction evidence was identified in the retrieved literature.
3. Phenotypes
3.1 Core phenotype spectrum
- Oral mass at birth: typically a smooth, pink/reddish, sessile or pedunculated gingival mass. (chaudhry2024congenitalepulisreport pages 1-2, mcguire2006pratiqueclinique pages 1-3)
- Location: usually anterior maxillary alveolar ridge; mandible less common; other sites (e.g., tongue) reported. (chaudhry2024congenitalepulisreport pages 1-2, oriaifo2024congenitalepulisin pages 1-3)
- Feeding/suckling difficulty: frequently described when lesions are large or protrude from the mouth, sometimes requiring nasogastric feeding. (oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3)
- Airway compromise (potential): large lesions can occupy the oral cavity and pose obstruction risk; many infants are stable but careful airway planning is emphasized. (mcguire2006pratiqueclinique pages 1-3, qin2024aclinicalobservation pages 2-3)
3.2 Phenotype timing/severity/progression
- Onset: congenital/neonatal; prenatal detection possible in the second/third trimester.
- Prenatal detection as early as ~25 weeks is described in a 2022 case report. (braz2022épuliscongénito pages 1-3)
- A 2024 case report series detected masses at ~34 weeks gestation by ultrasound. (han2024fromprenataldiagnosis pages 1-3)
- Progression: several reports describe rapid growth in late pregnancy and minimal/no growth after birth, with occasional spontaneous regression. (chaudhry2024congenitalepulisreport pages 1-2, mcguire2006pratiqueclinique pages 1-3)
3.3 Frequency among affected individuals (when available)
- Multiple lesions: approximately ~10% (or 5–16% in one report) are multifocal in the oral cavity. (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3)
3.4 Quality-of-life / functional impact
Primary impact is feeding/breastfeeding impairment in the newborn period and potential airway management complexity. Postoperative functional recovery (return to oral feeding/breastfeeding) is typically rapid in reported cases. (qin2024aclinicalobservation pages 1-2, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3)
3.5 Suggested HPO terms (non-exhaustive)
- Congenital onset (HP:0003577) (general)
- Feeding difficulties (HP:0011968)
- Poor suck (HP:0002033)
- Respiratory distress (HP:0002098) (if airway compromise)
- Oral cavity mass / Gingival mass (suggested; verify exact HPO IDs during curation)
4. Genetic / molecular information
4.1 Causal genes
No causal gene has been identified or reported in the retrieved evidence.
4.2 Pathogenic variants
No germline or somatic pathogenic variants were reported.
4.3 Genetic testing evidence in retrieved literature
- A 2024 prenatal management report states noninvasive prenatal genetic testing was low-risk for trisomies 21/18/13 in an affected pregnancy. This does not imply a genetic cause; it reflects normal aneuploidy screening in that case. (qin2024aclinicalobservation pages 1-2)
4.4 Immunophenotype / molecular markers (diagnostic)
- Typical immunophenotype in several recent cases: vimentin positive, S-100 negative, with NSE and CD68 negative in at least one 2024 report. (han2024fromprenataldiagnosis pages 1-3)
- Variability exists: a 2024 report documents weak S-100 and CD68 positivity, vimentin positivity, SOX-10 negative, NSE negative, and Ki-67 ~15% positive. (qin2024aclinicalobservation pages 1-2)
Interpretation: recent work cautions that S-100 alone may be insufficient to distinguish CGCE from adult granular cell tumor because some CGCE cases may show S-100 positivity. (qin2024aclinicalobservation pages 2-3, qin2024aclinicalobservation pages 1-2)
5. Environmental information
No consistent environmental triggers, toxins, infections, or lifestyle associations were identified in the retrieved literature. A 2024 case report explicitly notes absence of familial tendency or teratogen association in its discussion. (haghegh2024congenitalepulisa pages 4-6)
6. Mechanism / pathophysiology
6.1 Current mechanistic hypotheses
- Histogenesis is unclear/controversial with multiple proposed cellular origins (pericyte, fibroblast, histiocyte, nerve-related, undifferentiated mesenchymal). (han2024fromprenataldiagnosis pages 1-3)
- Hormonal influence model: intrauterine estrogen exposure is discussed as a prevailing hypothesis; postpartum hormonal decline may halt growth and could explain rare regression. (qin2024aclinicalobservation pages 1-2)
6.2 Causal chain (working model; evidence-limited)
- In utero trigger (hypothesized hormonal milieu and/or mesenchymal developmental program) →
- Localized proliferation/differentiation of granular cells in gingival/alveolar mucosa →
- Exophytic gingival mass (pedunculated/sessile) →
- Mechanical functional effects (feeding difficulty, possible airway compromise) in the newborn. (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, mcguire2006pratiqueclinique pages 1-3)
6.3 Suggested GO / CL terms (for curation; evidence-limited)
- GO (process): cell proliferation (GO:0008283) (supported indirectly by Ki-67 reporting in at least one case) (qin2024aclinicalobservation pages 1-2)
- CL (cell type): undifferentiated mesenchymal cell (candidate; based on hypothesized origins, not proven) (han2024fromprenataldiagnosis pages 1-3)
7. Anatomical structures affected
7.1 Primary anatomical sites
- Gingiva / alveolar ridge (especially anterior maxillary alveolar ridge). (han2024fromprenataldiagnosis pages 1-3, mcguire2006pratiqueclinique pages 1-3)
7.2 Suggested UBERON terms (examples; verify IDs during curation)
- Gingiva
- Maxillary alveolar ridge
- Mandibular alveolar ridge
- Oral cavity
- Hard palate / upper lip (relevant to lesion proximity on imaging in some cases) (qin2024aclinicalobservation pages 1-2)
8. Temporal development
- Onset: congenital; often detected at birth; prenatal detection in late pregnancy increasingly reported in 2024 literature. (han2024fromprenataldiagnosis pages 1-3, qin2024aclinicalobservation pages 1-2)
- Course: typically does not grow after birth; occasional spontaneous regression is reported; otherwise stable until excision. (chaudhry2024congenitalepulisreport pages 1-2, mcguire2006pratiqueclinique pages 1-3)
9. Inheritance and population
9.1 Epidemiology (statistics)
Estimates vary across reports: - Incidence: approximately 0.0006% cited in 2024 literature. (han2024fromprenataldiagnosis pages 1-3, haghegh2024congenitalepulisa pages 1-4) - Alternative incidence estimate: ~1 per 6,000,000 in a 2022 neonatal report. (braz2022épuliscongénito pages 1-3) - Another literature-derived estimate: 6–9 cases per million births in a review-style summary. (vera2026épuliscongénitocaso pages 1-4)
Sex ratio: strong female predominance, commonly 8–10:1 or 10:1 female:male. (han2024fromprenataldiagnosis pages 1-3, mcguire2006pratiqueclinique pages 1-3)
Site distribution: maxilla predominates over mandible, often cited as ~3× more common in the maxilla (or ratios 2:1–3:1 across reports). (qin2024aclinicalobservation pages 1-2, mcguire2006pratiqueclinique pages 1-3)
Pathology service-based frequency (not population incidence): In a 51-year Malaysian oral pathology series (≤2 years old), congenital epulis comprised 11/27 (40.7%) of newborn oral/maxillofacial biopsy diagnoses, showing it is a major neonatal indication for biopsy among rare lesions in that dataset. (shuhairi2021aretrospectiveanalysis pages 4-5)
9.2 Inheritance pattern
- Reported as sporadic with “no familial tendency” in at least one discussion; family histories without hereditary diseases are described in multiple cases. (haghegh2024congenitalepulisa pages 4-6, qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3)
10. Diagnostics
10.1 Clinical diagnosis
Clinical suspicion arises from the classic newborn gingival mass, often pedunculated and well circumscribed; diagnosis is typically confirmed histologically. (braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3)
10.2 Imaging
Prenatal imaging (2023–2024 emphasis): - Prenatal ultrasound can show a mass protruding from the fetal mouth in the third trimester; multidisciplinary planning is used to manage delivery/anesthesia risks. (han2024fromprenataldiagnosis pages 1-3, han2024fromprenataldiagnosis pages 3-4) - Prenatal MRI complements ultrasound by defining relationships to palate/gingiva and tissue characteristics; one 2024 report details T1/T2 and diffusion-weighted findings and discusses the role of Doppler flow in differential diagnosis. (qin2024aclinicalobservation pages 1-2, qin2024aclinicalobservation pages 2-3)
Visual evidence (prenatal imaging/IHC panels): Han et al. include prenatal sonography and immunohistochemistry panels (vimentin staining, S-100 negativity) in figures/tables. (han2024fromprenataldiagnosis media e73f6ade)
10.3 Histopathology
Typical histology: sheets/nests/ribbons of granular cells with abundant eosinophilic granular cytoplasm, prominent capillaries/vascular stroma, and thin overlying squamous epithelium without pseudoepitheliomatous hyperplasia. (qin2024aclinicalobservation pages 2-3, mcguire2006pratiqueclinique pages 1-3, chaudhry2024congenitalepulisreport pages 1-2)
10.4 Immunohistochemistry
- Typical: vimentin+, S-100−; NSE/CD68 may be negative. (han2024fromprenataldiagnosis pages 1-3)
- Documented variation: weak S-100/CD68 positivity and Ki-67 ~15% (one 2024 case). (qin2024aclinicalobservation pages 1-2)
10.5 Differential diagnosis
Differentials include fetal/neonatal oral teratoma/epignathus, hemangioma/vascular malformation, melanotic neuroectodermal tumor of infancy, rhabdomyosarcoma, dermoid cyst, fibroma, and granular cell tumor. (qin2024aclinicalobservation pages 2-3, oriaifo2024congenitalepulisin pages 1-3, mcguire2006pratiqueclinique pages 1-3)
11. Outcome / prognosis
- Excellent prognosis after complete excision; recurrence is described as negligible/rare and malignant transformation not reported in the retrieved sources. (han2024fromprenataldiagnosis pages 1-3, mcguire2006pratiqueclinique pages 1-3, mcguire2006congenitalepulisa pages 3-4)
- Recent follow-up examples:
- No recurrence at 6 months after excision of a large lesion in 2024 (Qin et al.). (qin2024aclinicalobservation pages 1-2)
- No recurrence at 1 year in two 2024 cases (Chaudhry et al.). (chaudhry2024congenitalepulisreport pages 1-2)
12. Treatment
12.1 Standard of care: surgery
- Local surgical excision is the primary treatment when feeding/airway function is compromised; recent cases use general anesthesia with tracheal intubation and electrocautery/ligation for hemostasis. (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 3-4, mcguire2006pratiqueclinique pages 1-3)
- Wide excision is generally unnecessary because recurrence after incomplete excision is described as not reported in one review-oriented source. (mcguire2006congenitalepulisa pages 3-4)
12.2 Supportive management
- Nasogastric feeding/IV fluids may be used temporarily if oral feeding is impaired until definitive management. (oriaifo2024congenitalepulisin pages 1-3, mcguire2006pratiqueclinique pages 1-3)
12.3 Observation/spontaneous regression
- Spontaneous regression is described as rare, but reported in the literature and discussed in both older and recent sources. (mcguire2006pratiqueclinique pages 1-3, chaudhry2024congenitalepulisreport pages 1-2)
12.4 Clinical trials
A clinical trials registry search in the current tool environment did not identify relevant interventional trials for congenital epulis/CGCE. (shuhairi2021aretrospectiveanalysis pages 1-2)
12.5 Suggested MAXO terms (examples; verify IDs during curation)
- Surgical excision (oral lesion)
- Airway management / endotracheal intubation (perioperative)
- Enteral feeding via nasogastric tube
- Prenatal multidisciplinary care planning
13. Prevention
- Primary prevention: none established (unknown etiology; non-genetic sporadic pattern). (mcguire2006congenitalepulisa pages 3-4, haghegh2024congenitalepulisa pages 4-6)
- Secondary prevention / risk mitigation: prenatal detection (ultrasound ± MRI) enables delivery planning and early postnatal management to prevent feeding/airway complications. (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3)
14. Other species / natural disease
No naturally occurring non-human cases or veterinary relevance were identified in the retrieved evidence.
15. Model organisms
No established animal or experimental model organism systems were identified in the retrieved evidence.
Key evidence tables (for knowledge-base population)
Table (click to expand)
| Identifier system | Term/code (if present) | Notes | Key supporting citation IDs |
|---|---|---|---|
| MeSH | gingival neoplasms/complications; gingival neoplasms/congenital; granular cell tumor/congenital; infant, newborn |
Explicit MeSH indexing reported in a peer-reviewed dental article on congenital epulis. | (mcguire2006pratiqueclinique pages 1-3, mcguire2006congenitalepulisa pages 1-3) |
| WHO naming | congenital granular cell epulis |
A 2024 case report states this is the term used by WHO; literature also uses congenital epulis. |
(oriaifo2024congenitalepulisin pages 1-3) |
| ICD-10 / ICD-11 | No specific code identified in retrieved sources | Available texts did not provide an explicit ICD-10 or ICD-11 code for congenital epulis; coding remains unresolved in this evidence set. | (mcguire2006congenitalepulisa pages 3-4, qin2024aclinicalobservation pages 1-2, braz2022épuliscongénito pages 1-3, lacerda2025congenitalepulidisa pages 10-10) |
| Synonym / terminology | congenital epulis |
Most commonly used umbrella term in clinical literature; refers to a rare benign neonatal gingival/alveolar lesion. | (mcguire2006congenitalepulisa pages 3-4, qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3) |
| Synonym / terminology | congenital granular cell epulis (CGCE) |
Common recent preferred term, especially in 2024 prenatal-management and pathology reports. | (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3) |
| Synonym / terminology | Neumann tumor / Newmann’s tumor |
Historical eponym tracing to the first description in 1871. | (mcguire2006congenitalepulisa pages 3-4, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3, braz2022épuliscongénito pages 1-3) |
| Synonym / terminology | congenital gingival granular cell tumor |
Frequently used pathology/clinical synonym emphasizing gingival origin. | (chaudhry2024congenitalepulisreport pages 1-2, oriaifo2024congenitalepulisin pages 1-3) |
| Synonym / terminology | congenital granular cell myoblastoma |
Older synonym still encountered in case reports and reviews. | (mcguire2006congenitalepulisa pages 3-4, chaudhry2024congenitalepulisreport pages 1-2) |
| Incidence estimate | 0.0006% |
Reported in 2024/2025 case literature and review-style discussion. | (haghegh2024congenitalepulisa pages 1-4, han2024fromprenataldiagnosis pages 1-3) |
| Incidence estimate | ~1/6,000,000 |
Alternative estimate reported in a 2022 Spanish-language neonatal case report. | (braz2022épuliscongénito pages 1-3) |
| Incidence estimate | 6–9 cases per million births |
Reported in review-style summary evidence; should be treated as literature-derived estimate rather than registry-based incidence. | (vera2026épuliscongénitocaso pages 1-4) |
| Sex ratio | Female predominance 8–10:1 |
Strong and consistent female excess across modern and older case literature. | (chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3) |
| Sex ratio | Female predominance 10:1 |
Commonly cited estimate in reviews/case discussions. | (haghegh2024congenitalepulisa pages 1-4, mcguire2006congenitalepulisa pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Site distribution | Maxilla:mandible 2:1 |
One recent prenatal/postnatal management report gives an approximate 2:1 maxillary predominance. | (qin2024aclinicalobservation pages 1-2) |
| Site distribution | Maxilla:mandible 2–3:1 |
2022 case report describes upper-jaw predominance in a 2–3:1 ratio. | (braz2022épuliscongénito pages 1-3) |
| Site distribution | Maxilla:mandible 3:1 / maxilla 3× mandible |
Frequently cited distribution in 2006 and 2024 literature; lesion usually arises on anterior maxillary alveolar ridge. | (haghegh2024congenitalepulisa pages 4-6, haghegh2024congenitalepulisa pages 1-4, mcguire2006congenitalepulisa pages 1-3, han2024fromprenataldiagnosis pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Multiplicity | Multiple lesions in ~5%–16% or ~10% of cases |
Most cases are solitary; multifocal lesions are uncommon but well documented. | (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3) |
Table: This table summarizes the main identifiers, synonyms, and core epidemiologic estimates for congenital epulis from the retrieved evidence. It is useful for harmonizing disease terminology and for quickly comparing commonly cited incidence, sex-ratio, and site-distribution figures.
Table (click to expand)
| Domain | Finding | Typical timing/onset | Quantitative stats (if available) | Ontology term suggestions (HPO/GO/CL/UBERON/MAXO as appropriate) | Key citations |
|---|---|---|---|---|---|
| Phenotype | Benign congenital oral/alveolar soft-tissue mass; usually smooth, pink/red, sessile or pedunculated, often lobulated | Congenital; present at birth or detected in late 3rd trimester prenatally | Size ranges from millimeters to ~9 cm in literature; examples 3×2×2 cm, 3×4×3 cm, 5.0×4.5×3.0 cm | HPO: Congenital onset (HP:0003577), Gingival mass/oral cavity mass (suggested); UBERON: gingiva, maxillary alveolar ridge, mandibular alveolar ridge | (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Phenotype | Predominant location is anterior maxillary alveolar ridge; mandibular gingiva less common; tongue rare | Present at birth; prenatal detection possible from ~25–26 weeks | Maxilla more common than mandible by ~2:1, 2–3:1, or 3:1 across reports | UBERON: maxillary alveolar ridge, mandibular alveolar ridge, gingiva, tongue | (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Phenotype | Strong female predominance | Congenital/neonatal | Female:male ratio ~8–10:1 or 10:1 | HPO: Female-limited/sex-biased occurrence (suggested epidemiologic annotation) | (chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Phenotype | Usually solitary lesion, but multifocal disease occurs | Congenital/neonatal | Multiple lesions reported in ~5–16% or ~10% of cases | HPO: Multiple oral masses (suggested) | (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3) |
| Phenotype | Feeding/suckling impairment due to oral mass | Immediate neonatal period | Common functional consequence in large lesions; case reports required NG feeds/support | HPO: Feeding difficulties (HP:0011968), Poor suck (HP:0002033) | (chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 3-4, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Phenotype | Respiratory compromise/airway obstruction can occur with large tumors, though many neonates remain stable | Immediate neonatal period | Qualitative risk; no pooled percentage in retrieved evidence | HPO: Respiratory distress (HP:0002098), Airway obstruction (suggested) | (qin2024aclinicalobservation pages 2-3, chaudhry2024congenitalepulisreport pages 1-2, oriaifo2024congenitalepulisin pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Phenotype | Growth pattern: prenatal enlargement in 3rd trimester; usually stops growing after birth; rare spontaneous regression reported | Late pregnancy to neonatal period | Prenatal diagnosis as early as 25–26 weeks; spontaneous regression uncommon but documented | HPO: Congenital onset (HP:0003577) | (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Phenotype | Newborn oral pathology series shows congenital epulis is an important neonatal biopsy diagnosis | Newborn period | In a 51-year Malaysian series, congenital epulis accounted for 11/27 (40.7%) of newborn oral/maxillofacial biopsy diagnoses; 13 total cases (4.5% of all specimens ≤2 years) | Disease annotation / epidemiology field | (shuhairi2021aretrospectiveanalysis pages 1-2, shuhairi2021aretrospectiveanalysis pages 4-5) |
| Diagnosis | Prenatal ultrasound can identify protruding oral mass; MRI helps define relation to palate/gingiva and plan delivery/airway management | 25–39 weeks gestation | Prenatal detection reported from ~25–26 weeks; cases detected at 34–34.5 and 39 weeks | UBERON: oral cavity, palate, upper lip; Diagnostic imaging annotation | (qin2024aclinicalobservation pages 2-3, qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 3-4, han2024fromprenataldiagnosis pages 1-3, braz2022épuliscongénito pages 1-3) |
| Diagnosis | Gross pathology: well-circumscribed/polypoid lesion with smooth mucosal covering; yellow-white to gray-yellow cut surface possible | At birth / post-excision | Qualitative | UBERON: gingiva, oral mucosa | (qin2024aclinicalobservation pages 2-3, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 3-4, oriaifo2024congenitalepulisin pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Diagnosis | Histology: sheets/nests/ribbons of large polygonal granular cells with abundant eosinophilic granular cytoplasm and small central/eccentric nuclei; rich vascular stroma; thin squamous epithelium without pseudoepitheliomatous hyperplasia | Postnatal biopsy/excision specimen | No mitoses typically reported; PAS positivity reported in one case | GO: cytoplasmic granule; CL: mesenchymal cell (suggested); Tissue: stratified squamous epithelium, stromal capillaries | (qin2024aclinicalobservation pages 2-3, qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3, mcguire2006congenitalepulisa pages 3-4) |
| Diagnosis | Immunohistochemistry typically supports mesenchymal/non-neural profile | Postnatal tissue diagnosis | Common pattern: vimentin+, S-100−; Han 2024 also NSE− and CD68− | GO: vimentin intermediate filament organization (suggested); CL: undifferentiated mesenchymal cell (suggested) | (han2024fromprenataldiagnosis pages 1-3, han2024fromprenataldiagnosis media e73f6ade) |
| Diagnosis | IHC variability exists; weak S-100 and CD68 positivity can occur | Postnatal tissue diagnosis | Qin 2024: S100(+), CD68(+), vimentin(+), CR(+), SOX10−, NSE−, HMB45−, CK−, CEA−, SMA−, desmin−, Ki-67 ~15%+ | GO: cell proliferation (GO:0008283) for Ki-67 context | (qin2024aclinicalobservation pages 1-2, qin2024aclinicalobservation pages 2-3) |
| Diagnosis | Differential diagnosis includes teratoma/epignathus, hemangioma, lymphangioma, melanotic neuroectodermal tumor of infancy, rhabdomyosarcoma, dermoid cyst, fibroma, granular cell tumor | Prenatal and neonatal diagnostic workup | Qualitative | HPO/diagnostic differential field; UBERON: oral cavity, maxilla | (qin2024aclinicalobservation pages 2-3, oriaifo2024congenitalepulisin pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Diagnosis | Genetic findings are not established; no causal gene identified in retrieved evidence | N/A | Prenatal NIPT low-risk for trisomies 21/18/13 in one 2024 case; no familial pattern in reported cases | No established causal gene/variant annotation | (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3) |
| Treatment | Primary treatment is complete local surgical excision, typically under general anesthesia; electrocautery or pedicle ligation may be used | Neonatal period, often within first days of life when feeding/airway affected | Surgery at day 1–3 in several cases; minimal bleeding reported | MAXO: Surgical excision of oral lesion (suggested), Airway management (suggested), Enteral feeding support (suggested) | (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2, han2024fromprenataldiagnosis pages 3-4, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Treatment | Multidisciplinary prenatal/postnatal management is increasingly reported for prenatally diagnosed cases | Late pregnancy through neonatal care | Teams included obstetrics, pediatricians, anesthesiology, oral/maxillofacial surgery; cesarean selected in some large lesions | MAXO: Multidisciplinary care planning (suggested), Cesarean delivery when indicated (suggested) | (qin2024aclinicalobservation pages 2-3, qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 3-4, han2024fromprenataldiagnosis pages 1-3) |
| Treatment | Supportive care may include nasogastric feeding, IV fluids, and oral wound care before/after surgery | Immediate neonatal period | Qualitative | MAXO: Nasogastric tube feeding, Intravenous fluid administration, Postoperative wound care (suggested) | (chaudhry2024congenitalepulisreport pages 1-2, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
| Prognosis | Prognosis is excellent; lesion is benign with no malignant transformation reported in retrieved sources | Short- and long-term after excision | Qualitative; literature consistently describes negligible recurrence/malignant transformation | Prognosis field | (han2024fromprenataldiagnosis pages 1-3, oriaifo2024congenitalepulisin pages 1-3, mcguire2006pratiqueclinique pages 1-3, mcguire2006congenitalepulisa pages 3-4) |
| Prognosis | Recurrence after excision is very uncommon/not reported in cited case literature | Follow-up months to 1 year and literature summaries | No recurrence at 6 months (Qin 2024); no recurrence at 1 year in both Chaudhry 2024 cases; no recurrence reported in review-style summaries | Outcome annotation | (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2) |
| Prognosis | Functional recovery after treatment is usually rapid, with restoration of feeding/breastfeeding | Hours to days after surgery | Postoperative feeding resumed within hours to 2 days in case reports | HPO improvement: Feeding difficulties resolved (suggested) | (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 3-4, oriaifo2024congenitalepulisin pages 1-3, braz2022épuliscongénito pages 1-3, mcguire2006pratiqueclinique pages 1-3) |
Table: This table consolidates the main phenotype, diagnostic, treatment, and prognosis findings for congenital epulis/congenital granular cell epulis from the retrieved case reports and retrospective study. It is useful for rapid disease knowledge base curation, including ontology suggestions and directly traceable citation support.
Recent developments (2023–2024 prioritized) and real-world implementations
- Prenatal detection and multidisciplinary perinatal planning is a recurring theme in 2024 reports, supporting real-world implementation of fetal imaging (ultrasound/MRI) to guide delivery route and neonatal airway/feeding readiness. (qin2024aclinicalobservation pages 1-2, han2024fromprenataldiagnosis pages 1-3)
- Immunohistochemistry variability (weak S-100/CD68 positivity in CGCE) is emphasized in 2024 literature, refining diagnostic practice away from relying on S-100 alone. (qin2024aclinicalobservation pages 1-2)
- Post-excision outcomes (rapid return to feeding and no recurrence at 6–12 months) are reiterated in 2024 case reports, supporting early functional restoration as a practical clinical goal. (qin2024aclinicalobservation pages 1-2, chaudhry2024congenitalepulisreport pages 1-2)
Direct quotes from abstracts (where available in retrieved texts)
- Han et al., 2024 (Pathology and Oncology Research; published 10 Jul 2024; https://doi.org/10.3389/pore.2024.1611834): “Herein, we detail a multidisciplinary approach and sequential treatment for two infants with congenital granular cell epulis (CGCE).” (han2024fromprenataldiagnosis pages 1-3)
- Oriaifo et al., 2024 (European Journal of Clinical and Experimental Medicine; published 30 Dec 2024; https://doi.org/10.15584/ejcem.2024.4.6): “Congenital epulis is a rare benign tumor that affects the oral cavity of newborns which typically presents as a solitary mass on the maxillary alveolar bridge at birth, with a predilection for the female gender.” (oriaifo2024congenitalepulisin pages 1-3)
- Chaudhry et al., 2024 (Journal of Pediatric and Adolescent Surgery; https://doi.org/10.46831/jpas.v1i2.99): “Congenital epulis is a rare benign… mass… commonly occurring at the anterior alveolar ridge of the maxilla.” (chaudhry2024congenitalepulisreport pages 1-2)
Evidence limitations
- The retrieved evidence set did not contain MONDO/Orphanet/OMIM/ICD-11 codes or a definitive ICD-10 mapping for congenital epulis, nor did it provide causal genes or population-based incidence estimates from registries; most numeric estimates are literature-derived and may vary by source. (mcguire2006congenitalepulisa pages 3-4, vera2026épuliscongénitocaso pages 1-4, braz2022épuliscongénito pages 1-3)
References
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(han2024fromprenataldiagnosis pages 1-3): Yibing Han, Wen Qiu, Yu Zhang, Mengmeng Hua, Shaohua Liu, and Zuoqing Dong. From prenatal diagnosis to surgical treatment: two case reports of congenital granular cell epulis. Pathology and Oncology Research, Jul 2024. URL: https://doi.org/10.3389/pore.2024.1611834, doi:10.3389/pore.2024.1611834. This article has 5 citations.
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(mcguire2006pratiqueclinique pages 1-3): TP McGuire, PP Gomes, MM Freilich, and GKB Sándor. Pratiqueclinique. Unknown journal, 2006.
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(qin2024aclinicalobservation pages 1-2): Feng Qin, Xiaochuan Xu, Yong Yang, Qiong Li, Ting Huang, Xiaoyan Chen, Xiaolan Chen, Yamin Liu, and Gongli Chen. A clinical observation report on prenatal management and postnatal treatment of congenital granular cell epulis. Maternal-Fetal Medicine, 6:102-105, Apr 2024. URL: https://doi.org/10.1097/fm9.0000000000000225, doi:10.1097/fm9.0000000000000225. This article has 1 citations.
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(chaudhry2024congenitalepulisreport pages 1-2): Ali Raza Chaudhry, Rumaisaa Saman, Muhammad Umar Nisar, Khawar Abbas, and Samer Sikander. Congenital epulis: report of two cases. Journal of Pediatric and Adolescent Surgery, 1:117-119, Jul 2024. URL: https://doi.org/10.46831/jpas.v1i2.99, doi:10.46831/jpas.v1i2.99. This article has 3 citations.
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(oriaifo2024congenitalepulisin pages 1-3): Sylvester Oriaifo, Osasere Andrew Eweka, and Kenneth Atoe. Congenital epulis in a newborn – a case report in benin city, nigeria. European Journal of Clinical and Experimental Medicine, 22:965-968, Dec 2024. URL: https://doi.org/10.15584/ejcem.2024.4.6, doi:10.15584/ejcem.2024.4.6. This article has 1 citations.
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(mcguire2006congenitalepulisa pages 3-4): TP McGuire, PP Gomes, and MM Freilich. Congenital epulis: a surprise in the neonate. Unknown journal, 2006.
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(braz2022épuliscongénito pages 1-3): Juliana Braz, Helena Sobrero, Jennise De los Santos, Mario Moraes, and Sheila Jacobsen. Épulis congénito. Archivos de Pediatría del Uruguay, May 2022. URL: https://doi.org/10.31134/ap.93.1.15, doi:10.31134/ap.93.1.15. This article has 0 citations.
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(shuhairi2021aretrospectiveanalysis pages 1-2): Nadia Najwa Binti Shuhairi, Ajura Bt Abdul Jalil, Shin‐Hin Lau, Sumarni Bt Mohd Ghazali, and Chee Cheong Kee. A retrospective analysis of oral and maxillofacial biopsied specimens in malaysian newborns and infants. International Journal of Paediatric Dentistry, 31:496-503, Sep 2021. URL: https://doi.org/10.1111/ipd.12719, doi:10.1111/ipd.12719. This article has 6 citations and is from a domain leading peer-reviewed journal.
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(qin2024aclinicalobservation pages 2-3): Feng Qin, Xiaochuan Xu, Yong Yang, Qiong Li, Ting Huang, Xiaoyan Chen, Xiaolan Chen, Yamin Liu, and Gongli Chen. A clinical observation report on prenatal management and postnatal treatment of congenital granular cell epulis. Maternal-Fetal Medicine, 6:102-105, Apr 2024. URL: https://doi.org/10.1097/fm9.0000000000000225, doi:10.1097/fm9.0000000000000225. This article has 1 citations.
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(haghegh2024congenitalepulisa pages 4-6): Khadija Haghegh and Mohammed Almughrabi. Congenital epulis: a case report. Journal, Jul 2024. URL: https://doi.org/10.60692/z0ew7-7n257, doi:10.60692/z0ew7-7n257. This article has 0 citations.
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(haghegh2024congenitalepulisa pages 1-4): Khadija Haghegh and Mohammed Almughrabi. Congenital epulis: a case report. Journal, Jul 2024. URL: https://doi.org/10.60692/z0ew7-7n257, doi:10.60692/z0ew7-7n257. This article has 0 citations.
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(vera2026épuliscongénitocaso pages 1-4): RMCV Vera, TLP Mawyin, and RFA Bajaña. Épulis congénito: caso clínico y revisión de la literatura. Unknown journal, 2026.
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(shuhairi2021aretrospectiveanalysis pages 4-5): Nadia Najwa Binti Shuhairi, Ajura Bt Abdul Jalil, Shin‐Hin Lau, Sumarni Bt Mohd Ghazali, and Chee Cheong Kee. A retrospective analysis of oral and maxillofacial biopsied specimens in malaysian newborns and infants. International Journal of Paediatric Dentistry, 31:496-503, Sep 2021. URL: https://doi.org/10.1111/ipd.12719, doi:10.1111/ipd.12719. This article has 6 citations and is from a domain leading peer-reviewed journal.
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(han2024fromprenataldiagnosis pages 3-4): Yibing Han, Wen Qiu, Yu Zhang, Mengmeng Hua, Shaohua Liu, and Zuoqing Dong. From prenatal diagnosis to surgical treatment: two case reports of congenital granular cell epulis. Pathology and Oncology Research, Jul 2024. URL: https://doi.org/10.3389/pore.2024.1611834, doi:10.3389/pore.2024.1611834. This article has 5 citations.
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(han2024fromprenataldiagnosis media e73f6ade): Yibing Han, Wen Qiu, Yu Zhang, Mengmeng Hua, Shaohua Liu, and Zuoqing Dong. From prenatal diagnosis to surgical treatment: two case reports of congenital granular cell epulis. Pathology and Oncology Research, Jul 2024. URL: https://doi.org/10.3389/pore.2024.1611834, doi:10.3389/pore.2024.1611834. This article has 5 citations.
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(mcguire2006congenitalepulisa pages 1-3): TP McGuire, PP Gomes, and MM Freilich. Congenital epulis: a surprise in the neonate. Unknown journal, 2006.
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(lacerda2025congenitalepulidisa pages 10-10): ACR Lacerda, KAF Cruz, and EHBS Lima. Congenital epulidis: a literature review-from diagnosis to treatment. Unknown journal, 2025.