A Rare Flexural Variant of Epidermodysplasia Verruciformis in a Child
Year: 2025
Type: article
Study design: Case Report
Abstract: Madam, Epidermodysplasia verruciformis (EV) is a rare genetic disorder with an autosomal recessive inheritance. It is characterized by a weakened immune response and therefore abnormally increased susceptibility to β-human papillomavirus (HPV) infection. As a result of this, the patient presents with verruca plana-like lesions starting at an early age which may later develop into dysplasias and malignancies. The classic or inherited form mostly shows an autosomal recessive pattern of inheritance with onset in childhood, and autosomal dominant transmission has also been described. An acquired form exists in immunosuppressed individuals or people with human immunodeficiency virus. Clinically, lesions are highly polymorphic; pityriasis versicolor like, verruca plana like, and seborrheic keratosis (SK) like, either alone or in combination.[1] Initially, the lesions are hypochromic, scaly, localized patches on the face and neck, similar to tinea versicolor. Gradually, these lesions increase in number resembling flat warts. SK-like lesions have been previously described by authors,[2,3] mostly in adult patients, and are particularly associated with a high risk of malignant transformation. Lesions in EV are predominantly photodistributed. Here, we describe a child with SK-like lesions showing features of both SK and EV on histopathology with a flexural distribution. A 7-year-old boy presented to the outpatient department with multiple asymptomatic raised hyperpigmented lesions over the neck, axilla, and back. There was no family history of similar lesions. On cutaneous examination, there were multiple gray-to-black-colored papules over the neck, elbows, axillae, and popliteal fossae, resembling SK [Figure 1a and b]. No lesions were noted on the scalp, oral cavity, genitalia, or nails. Systemic examination was unremarkable. A punch biopsy from the forearm showed orthokeratotic hyperkeratosis, acanthotic epidermis, and hypergranulosis. Interrupted foci of large swollen basophilic keratinocytes having clear nuclei with prominent nucleoli were seen in the granular and upper spinous layers. A mild dermal perivascular lymphocytic infiltrate was also noted. All these findings were suggestive of EV [Figure 2].Figure 1: (a) Verruca plana-like lesions of epidermodysplasia verruciformis (EV) on the neck and face of a 7-year-old patient, (b) EV lesions on the back of the kneesFigure 2: Histopathological section showing hyperkeratosis, acanthosis, and hypergranulosis. Large swollen basophilic keratinocytes with clear nuclei and prominent nucleoli are seen in the granular and spinous layers. Features are suggestive of epidermodysplasia verruciformis and seborrheic keratosisTransformation of EV lesions into squamous cell carcinoma (SCC) occurs in 30%–70% and may require >20 years for such conversion. The hallmark lesions of EV are preferentially located on sun-exposed sites of the face, neck, trunk, and extremities. This might be explained as a combination of the existence of oncogenic EV-HPV in the hair follicles and ultraviolet exposure.[4] Currently, there is no specific or effective treatment for EV. Management includes preventive measures such as genetic counseling, photoprotection, and monitoring for prompt identification of malignant lesions. We report this case of a child with a rare flexural variant of EV. Furthermore, our patient was not immunocompromised as has been previously reported. Our case had flexural predominance of lesions, whereas previous studies have mostly reported adults with SK-like lesions at photo-exposed sites. We would therefore like to highlight the importance of timely diagnosis of these patients to prevent the future development of malignancies. Declaration of consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Institutions: Maulana Azad Medical College, Lady Hardinge Medical College
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7117563490