Focal Epithelial Hyperplasia in a Somali Child: A Case Report and Review of Management with Topical Imiquimod

Abstract

Background

Focal epithelial hyperplasia (FEH), also known as Heck’s disease, is a rare, benign, contagious condition of the oral mucosa associated primarily with human papillomavirus (HPV) types 13 and 32. It predominantly affects children and adolescents and is often underreported in many regions.

Case Presentation

We report the case of an 8-year-old Somali girl who presented with a 3.5-year history of asymptomatic, progressively increasing oral mucosal lesions. Clinical examination revealed multiple soft, flat-topped, verrucous papules involving the lower labial, buccal, lingual mucosa, and gingiva. The patient presented with poor oral hygiene; however, feeding difficulties, malnutrition, systemic symptoms, previous treatment, and similar lesions among family members were absent. A clinical diagnosis of focal epithelial hyperplasia was made (Figure 1). The patient was treated with off-label topical imiquimod 5% cream applied three times weekly at bedtime. After two weeks of therapy, the patient developed local adverse reactions, including mucosal erythema, erosion, crusting, and minor focal bleeding (Figure 2). During this phase, she experienced localized burning discomfort, mild pain, and transient feeding difficulty, which necessitated a temporary 1-week treatment holiday and supportive local care. Following seven weeks of resumption, complete clinical resolution (Figure 3) of the lesions was achieved within ten weeks of total management, with no recurrence observed over a 16-month follow-up period.

Conclusion

This case represents the first documented report of focal epithelial hyperplasia in Somalia and highlights the utility of off-label and non-invasive topical imiquimod 5% cream. Increased clinical awareness is essential for accurate diagnosis and appropriate management, particularly in underreported settings.

Introduction

Focal epithelial hyperplasia (FEH), commonly referred to as Heck’s disease, is a rare benign proliferative disorder of the oral mucosa characterized by multiple soft papules or nodules. The condition was initially described in the late 19th century¹ and later more clearly defined in 1965 by Archard and Heck following observations among indigenous populations.² It was subsequently termed “Heck’s disease” in 1966.^3,4

Focal epithelial hyperplasia has been reported predominantly among specific ethnic groups, including Native Americans, Inuit populations, and certain African communities; however, cases have also been identified globally. The reported prevalence varies widely, ranging from 0.002% to 35%, depending on geographic and population factors.⁵

This condition primarily affects children and adolescents, with strong sex predilection (“female to male ratio; 4–5:1”).⁶ Familial clustering has been observed, suggesting a combination of viral transmission and genetic susceptibility.^7,8 The disease is strongly associated with low-risk HPV subtypes, particularly HPV-13 and HPV-32.⁹ These viral subtypes are considered low-risk and are not associated with malignant transformation.^6,9,10 Pathologically, it is characterized by localized epithelial proliferation resulting in multiple papular lesions confined to the oral cavity.⁹

Several predisposing factors have been linked to FEH, including genetic susceptibility, poor oral hygiene, malnutrition, and immunosuppression. These factors may facilitate viral persistence and lesion development.^9,11,12

Clinically, focal epithelial hyperplasia presents as multiple exophytic papules or nodules measuring 1–10 mm in diameter. The lesions are typically soft, painless, and may coalesce into a characteristic cobblestone pattern. The lower lip, buccal mucosa, and tongue are most frequently involved, whereas involvement of the palate, floor of the mouth, and oropharynx is uncommon.

Diagnosis is primarily clinical, particularly in endemic or high-risk settings; however, differential diagnoses must include condyloma acuminatum, viral warts, oral papillomatosis, mucosal neuroma, Crohn’s disease, Cowden’s syndrome, focal dermal hypoplasia, white sponge nevus, and traumatic papilloma.^9,10 Molecular techniques such as polymerase chain reaction (PCR) can detect HPV DNA to provide definitive etiology.^7,9,13,14

This disease is generally self-limiting, with spontaneous regression occurring over months to years. Consequently, treatment is not mandatory unless lesions cause functional impairment, aesthetic concern, or psychological distress.

Various treatment modalities have been reported, including surgical excision, cryotherapy, electrocautery, laser therapy, interferon therapy, and systemic retinoids.¹⁵ However, invasive approaches may carry risks of recurrence, discomfort, or tissue scarring.

To date, there are no published reports of focal epithelial hyperplasia originating in Somalia. This paper describes a paediatric case successfully managed with off-label topical imiquimod 5% cream applied three times weekly at bedtime for ten weeks—were oral mucosal sites gently dried with sterile gauze and used sterile gloves for application—and discusses its clinical relevance.

Discussion

The clinical presentation of this case is consistent with the characteristic phenotype of focal epithelial hyperplasia (FEH, Heck’s disease) described in the literature.^2,3,6,9,16 The patient presented with a 3.5-year history of progressive, painless, soft, flat-topped and slightly verrucous papules involving the lower labial, bilateral buccal and lingual mucosa and gingiva. These findings reflect the standard clinical description of FEH: multiple, soft, mucosa-coloured or whitish papules occurring predominantly in paediatric populations.^{2,3,6,9,10,16}

The lesion distribution and absence of pain or systemic symptoms are clinically compatible with prior pediatric reports.^2,3,6,9 The prolonged course pre-presentation course reflects the chronic yet benign natural history of FEH, in which lesions can persist for extended periods prior to spontaneous regression.^9,15,16 Although HPV-13 and HPV-32 are most commonly implicated, viral genotyping was unavailable in this case; thus, the diagnosis remains clinical rather than molecularly confirmated.^6,9,16

The therapeutic response is consistent with published reports evaluating topical imiquimod for FEH. The application of imiquimod 5% cream three times weekly produced marked lesion regression after a brief pause and achieved complete clinical clearance within ten weeks of total clinical management. This treatment schedule and clinical response align with previously published pediatric data, which include the successful treatment of three children with FEH using topical imiquimod 5% without serious adverse effects or recurrence during a one-year follow-up period.¹⁵

Similarly, a report detailing two affected siblings managed with imiquimod 5% described complete clinical resolution following treatment regimens of two months (three times weekly) in one child and one month (followed by increased application frequency) in the other.¹⁷

This case provides further pediatric observation supporting imiquimod as a non-invasive alternative when lesions are multifocal or when tissue-destructive procedures are undesirable.^15,17 Nevertheless, the evidence must be interpreted with caution, as published data remains restricted to individual case reports and small case series rather than controlled clinical trials.^15,17–19

A recent scoping review on mucosal imiquimod applications identified five studies encompassing eight FEH cases treated with 5% imiquimod; complete resolution occurred in all patients, though one recurrence was noted within six months.¹⁹ This small evidence base precludes firm conclusions regarding comparative efficacy.

The local adverse effects observed in our patient—localized erythema, erosion, crusting and minor bleeding after two weeks of therapy—reflect the expected immunologic mechanism of topical imiquimod.^18,19 Importantly, these reactions were reversible and managed by temporarily withholding treatment for one week. Off-label mucosal imiquimod applications generally report manageable local side effects, including erythema, erosion, ulceration, and localized irritation.^18,19

This temporary treatment interruption highlights an important practical strategy: localized inflammatory reactions are expected markers of immune activation, and a brief drug holiday permitted resolution of mucosal inflammation without requiring permanent cessation of therapy.^18,19 During the one-week interruption of imiquimod, supportive care with 0.12% chlorhexidine mouthwash and oral triamcinolone gel was provided for seven days, successfully reducing mucosal irritation and permitting safe treatment resumption. The lack of recurrence over 16-month follow-up aligns with the existing pediatric case series reporting sustained remissions at one year.¹⁵

From a geographic perspective, FEH has historically show elevated prevalence among certain indigenous American, Inuit, and geographically isolated groups, though cases are increasingly reported worldwide.^4,5,8,13,16 A 2021 contemporary review highlighted substantial geographic variability and emphasized that under-recognition and under-reporting likely contribute to the apparent demographic concentration.¹⁶

In this context, documenting a Somali child with classic FEH is notable, as no prior cases from Somalia have been indexed in the reviewed literature. This report should not be construed as evidence of a geographically unique presentation, particularly given the lack of HPV typing. Rather, it underscores that FEH must be considered in the differential diagnosis of pediatric oral mucosal lesions within Somalia and similar settings where specialized oral pathology or molecular diagnostics may be scarce.^5,8,13,16

Finally, pediatric considerations strongly dictate treatment selection. Because FEH is benign and frequently self-limiting, conservative observation is often appropriate for minimal, asymptomatic lesions.^9,16 However, intervention is indicated when lesions cause functional compromise, physical discomfort, or psychosocial distress.^9,15,16

Conventional invasive procedures—including scalpel excision, cryotherapy, electrocautery, and laser therapy—carry risk of procedural pain, scarring, and recurrence.^7,15,16 Topical imiquimod offers a non-invasive, patient-administered option suited for pediatric FEH.^17,19 Although oral application is off-label, and supported by low-level evidence,¹⁹ this, non-invasive topical therapy provides an effective alternative for managing FEH.

In summary, the clinical findings, rapid response to three-times-weekly imiquimod 5%, manageable local inflammatory reaction, and absence of long-term recurrence closely parallel established paediatric observations while expanding the documented geographic occurrence of FEH.^15,19

Conclusion

This case documents focal epithelial hyperplasia in a Somali child with complete clinical resolution following off-label treatment with topical imiquimod 5% cream for ten weeks. The positive response supports considering imiquimod as a non-invasive therapeutic option in select paediatric cases. Furthermore, this case highlights the need for heightened clinical recognition of FEH in previously underreported regions.

Figure 1.

Baseline clinical presentation of focal epithelial hyperplasia in an 8-year-old Somali girl, showing multiple asymptomatic, soft, mucosal-colored to pinkish flat-topped papules distributed across the lower labial mucosa and bilateral buccal mucosa.

Figure 2.

Local adverse inflammatory reaction and superficial mucosal breakdown following two weeks of topical off-label imiquimod 5% cream therapy, characterized erythema, mucosal erosions, crusting, and minor active bleeding. During this phase, the patient experienced mild localized pain, burning sensation, and minor feeding difficulty, necessitating a temporary 1-week treatment holiday and supportive care.

Figure 3.

Complete clinical resolution of oral mucosal lesions following ten weeks of topical imiquimod 5% treatment (nine active treatment weeks), demonstrating restored, healthy, non-scarred labial and buccal mucosa.

Ethical Considerations

This case report was conducted in accordance with the ethical principles of the Declaration of Helsinki. Written informed consent was obtained from the patient’s parent for publication of this case report and associated clinical images. Institutional ethics committee approval was not required for this single-case publication.

Author Contributions

All authors made substantial contributions to the conception and design of the report, acquisition and/or interpretation of clinical data, contributed to data analysis, drafting or revising the article for important intellectual content, have agreed on the journal to which the article will be submitted, gave final approval of the version to be published, and agree to be accountable for all aspects of the work.

Disclosure

The authors report no conflicts of interest associated with this study.