Multiple Painless Papules in the Oral Cavity of a 4-Year-Old Boy

A previously healthy 4-year-old boy who emigrated from Brazil presents to the pediatric clinic with his parents for a health maintenance visit. The parents are concerned about oral lesions that have persisted for 8 months. The parents deny food or medication allergies, weight loss, history of bleeding from the lesions, chronic medication use, trauma, pain, fever, or difficulty swallowing. His immunizations are up to date. Before this well-child visit, he was seen at an urgent care center 2 months earlier for the same lesions, and the parents were given reassurance without immediate interventions. There has been no significant increase in the size of the lesions since onset. Vital signs on arrival were as follows: temperature, 99.7 °F (37.6 °C); heart rate, 104 beats/min; respiratory rate, 21 breaths/min; blood pressure, 102/70 mm Hg; and oxygen saturation in room air, 99%. His body mass index is at the 67th percentile. The physical examination is pertinent for several nontender, whitish-pink papules on the inner buccal mucosa (Figure 1), inner lower lip (Figure 2), and lateral sides of the tongue (Figure 3) and enlarged circumvallate papillae on the posterior third of the tongue (Figure 4). The lesions are firm to palpation, nontender, and not scrapable. He has no skin lesions on examination. The patient is referred to a dentist and oral medicine specialist for further evaluation. The patient’s history and examination findings confirm the diagnosis.A diagnosis of focal epithelial hyperplasia (FEH, also called Heck disease) was established. Several oral mucosal disorders, such as oral hairy leukoplakia, Peutz-Jeghers syndrome, verruciform xanthoma, and verrucous carcinoma, can mimic this condition.FEH, also known as Heck disease or multiple FEH, is a rare and benign oral pathology characterized by the appearance of 1 or more lesions on the inner lining of the oral cavity. It results from the proliferation of the epithelial cells in the affected area.1 While FEH is encountered in immunocompromised individuals and populations living with HIV, it is rare, with a prevalence of less than 2%, and it can also occur in individuals who are not immunosuppressed. It is more common among Indigenous populations, particularly Native Americans, South Americans, and Inuit and Yupik populations.1–4 Certain nononcogenic strains of human papillomavirus (HPV), specifically HPV-13 and HPV-32, have been associated with FEH and are transmitted through salivary contact of infected persons.1,2,4 These viruses can trigger the development and propagation of FEH lesions. A systematic review by Sethi et al of cases published from 1966 to 2020 reported that patients affected by FEH were aged 3 to 92 years, with an average age of 23.1 years. Females are most affected, with a male-to-female ratio of 3:4.2Lesions can present in 2 forms: papulonodular and papillomatous. The former is characterized by a raised, pink, and “smooth” appearance, while the latter exhibits a cobblestone-like texture.3 These lesions may present as single or multiple spots and can vary in color, ranging from near-white to mucosa-colored. They may be flat or raised, measuring 0.2 to 3 cm in diameter.4 In addition, lesions are typically painless and do not cause any discomfort; however, in some cases, the lesions are associated with pruritus or a burning sensation and, rarely, dysphagia. They are commonly seen on the buccal mucosa, lower lip, and commissures (the corners of the mouth). However, there have been reports of lesions on the upper lip, tongue, hard palate, and gingiva.1,5The diagnosis of FEH is typically clinical. Diagnosis is based on clinical presentation, history, and physical examination of the lesions. Extensive laboratory investigations are not required except in cases of uncertain clinical presentations or diagnoses. Patients can be referred to oral medicine specialists (dentists specializing in disorders of the orofacial region) for further evaluation if the diagnosis is uncertain. While histopathology of biopsied lesions may confirm the diagnosis and is considered the gold standard to exclude other oral pathologies, it provides little to no therapeutic benefit, as lesions heal spontaneously over time without acute interventions or malignant progression.2 Studies are lacking to describe the expected time to resolution of FEH lesions. Histological features of FEH include parakeratosis, widened and thickened rete ridges, and ballooning degeneration. Koilocytes with clear cytoplasm and inclusion bodies are associated with HPV-related conditions. Tissue sections can also show cells with “mitosoid” and fragmented nuclei resembling mitotic figures. Polymerase chain reaction analysis can aid in detecting HPV DNA, but it is not diagnostic of FEH. Moreover, testing for HPV infection is rarely performed in patients with FEH, as it does not alter treatment decisions or outcomes.4FEH usually resolves spontaneously, leaving no residual effects, but there have been cases where lesions have persisted for over 30 years.1 Although FEH requires no acute interventions, some treatment options include topical 5% imiquimod, cryotherapy, cauterization, surgical resection, laser excision, and topical 80% trichloroacetic acid. Research on the prevalence and implications of HPV infections in patients with FEH, particularly in the pediatric population, is limited. Nonetheless, routine HPV vaccinations should be administered at the recommended ages.Differential diagnoses to consider include oral hairy leukoplakia (manifests as whitish corrugated lesions on the tongue, usually triggered by Epstein-Barr virus), Peutz-Jeghers syndrome (hyperpigmented macules or spots on the tongue/oral mucosa associated with gastrointestinal polyps), verruciform xanthoma (mostly isolated and solitary cauliflower-like lesion with a rough/pebble surface), and oral squamous cell carcinoma (sore, lump, or ulcer on the oral cavity with variable presentations and symptoms).The parents received reassurance and counseling from the oral medicine specialist regarding the expected outcome of the condition. Our patient was scheduled for a 6-month follow-up to reevaluate his oral lesions and for a possible biopsy and treatment if the lesions persisted or if the parents desired treatment. He remained asymptomatic and was growing and developing well, and during the 6-month follow-up visit, the lesions had nearly entirely resolved. He was then discharged from the oral medicine clinic and advised to follow up with his primary care pediatrician.SummaryFEH is a benign oral condition characterized by 1 or more lesions on the inner lining of the mouth due to the overgrowth of the epithelial cells in the affected area.It is essential for pediatricians to have knowledge about FEH and be able to educate and reassure parents about its benign nature despite its rarity.FEH has been linked to certain HPV strains; however, routine screening is not required, as it doesn’t alter treatment decisions or outcomes. Regardless, patients should be vaccinated against HPV at the appropriate ages.The condition is self-limiting with spontaneous regression, and treatment is unnecessary except for persistent or symptomatic lesions. Treatment can also be offered for cosmetic and psychological reasons.Treatment options include topical 5% imiquimod, cryotherapy, cauterization, surgical or laser excision, and topical 80% trichloroacetic acid.Thank you to Professor Muhammad Waseem for his review of the manuscript.

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