Correspondence Address:
Sheela Kuruvila
From the Department of Dermatology, Pondicherry Institute of Medical Sciences, Puducherry
India

Full Text



Sir,

A 35 year-old female, born to non-consanguineous parents, presented with dark lesions all over the body since adolescence, with a sudden increase in size of some of the lesions for 6 months. The patient's maternal uncle had earlier presented to us with similar lesions and a squamous cell carcinoma over the right wrist. On examination, multiple hyperpigmented papules and plaques with a stuck-on appearance were present over the trunk and extremities. Multiple polypoidal nodules associated with foul smelling discharge were present over the lower back. Hyperpigmented and hypopigmented macules were also present on the trunk and extremities [Figure 1]. Histopathological examination of a nodule on the back showed a tumour in the dermis, showing connection with overlying epidermis, suggestive of eccrine porocarcinoma. The malpighian layer showed numerous koilocytes. The individual tumour cells were cuboidal with pleomorphic vesicular nuclei and prominent nucleoli, arranged in cords and sheets [Figure 2]. Abnormal mitoses and duct formation were also seen [Figure 3]. A diagnosis of epidermodysplasia verruciformis with eccrine porocarcinoma was made.{Figure 1}{Figure 2}{Figure 3}

Epidermodysplasia verruciformis (EV) or Lewandowsky and Lutz dysplasia is an uncommon disorder with persistent, extensive human papilloma virus (HPV) infection, an increased risk of developing cutaneous malignancies and defective cell-mediated immunity.[1] The exact prevalence of this disorder is unknown. There are sporadic reports of over 500 patients worldwide, with no gender or racial predisposition.[2]

EV occurs in two forms with identical clinical presentations: the more common inherited or primary form and a secondary acquired form, occurring in immunocompromised individuals.

The inherited type of EV is characteristically autosomal recessive, although autosomal dominant, X-linked inheritance and sporadic mutations have also been documented.[3] Familial cases have been reported with variable disease progression in different family members.[1] Acquired forms of the disease have been reported after renal transplantation, in Hodgkin's disease, systemic lupus erythematosus, and HIV infection.[2]

The disease is multifactorial and involves an interplay of genetic, immunological, and environmental factors along with an unusual susceptibility to specific HPV strains, called EV-HPV which are certain types of beta-HPV. Many HPV types have been associated with EV, the most common types in patients with malignant transformation being HPV 5 and 8. Mutations in EVER 1/TMC 6 and EVER 2/TMC 8 genes on chromosome 17q25 have been identified. These are expressed in keratinocytes and in cells of the immune system, including T and B lymphocytes and 'natural killer' cells. The resulting impairment of cell-mediated immunity causes persisting infection with EV-associated HPV types, which causes malignant transformation of keratinocytes.[2],[3]

Cutaneous lesions of EV begin to develop in childhood. Plane wart-like lesions are the most common initial lesions, located predominantly on the face and dorsal aspect of hands. Pityriasis versicolor-like macules may be hypopigmented or hyperpigmented and maybe disseminated. Seborrheic keratosis-like lesions are distributed over sun-exposed areas.[1],[2] A spectrum of benign and malignant tumours associated with EV have been reported. Malignant tumours that appear in the 3rd or 4th decade, are localised, but may have regional or distant metastases.[2] Squamous cell carcinoma is the most common malignancy, but basosquamous carcinoma and rarely eccrine carcinoma have also been reported.[1],[2] Cutaneous malignancies generally occur over sun-exposed areas but may occur in covered sites also. Both benign and malignant adnexal tumours have rarely been reported in individuals with EV. There are at least two previous reports of syringoid eccrine carcinoma occurring in EV.[4],[5]

There is no definitive treatment for EV, and lesions are generally treatment-resistant. Sun protection forms the backbone of therapy. Regular observation and patient education for early diagnosis of malignant/premalignant lesions may help improve prognosis. Numerous treatment modalities have been tried including oral and topical retinoids, imiquimod, interferon, immunotherapy, photodynamic therapy, electrodessication, and cryotherapy. Surgical treatment with excision and grafting is effective in the management of the malignancies.[2],[3]

It is important to recognise EV because of its association with cutaneous malignancies. We report familial EV associated with an uncommon cutaneous malignancy, eccrine porocarcinoma, in one family member. On literature search, we found a report of clear cell porocarcinoma associated with EV from Brazil, and ours is the first report from Asia to the best of our knowledge.[6] Early recognition of the disease, genetic counselling, sun avoidance, regular monitoring by a dermatologist, and treatment of premalignant and malignant lesions are essential to reduce morbidity and mortality.

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The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Nil.

Conflicts of interest

There are no conflicts of interest.

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