Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism.

Sir,

A 24-year-old female presented to our outpatient department with multiple, asymptomatic, slowly progressing elevated lesions over the trunk and extremities for the last 13 years. Over a period of 2–3 years, they had slowly enlarged, with some of them showing surface ulceration. She gave history of photosensitivity, photophobia, and inability to see distant objects. There was no history of easy bruisability, gingival bleeding, epistaxis, or hemoptysis. She was born out of non-consanguineous marriage, and her family and personal history were non-contributory.

Cutaneous examination showed generalized depigmentation. Signs of photodamage were obvious in form of multiple freckles and actinic keratosis-like lesions predominantly over the photo-exposed parts with clear-cut demarcation from the covered body parts [Figures 1 and 2]. In addition, there were multiple exophytic plaques over the exposed parts of the back and V area of the neck. The lesions were of variable sizes, with rolled out margins. Some of the larger plaques showed surface ulceration and hemorrhagic crusting. Ocular examination revealed pigmentary dilution of eyelashes, eyebrows, iris, and fundus with foveal hypoplasia and prominent orange glow. There was nystagmus, esotropia, and decreased visual acuity (6/60 both eyes). Though her hair colour was white, it was not appreciated because she used to apply hair dye. There was no evidence of pallor, cyanosis, icterus, clubbing, lymphadenopathy, and organomegaly. Systemic examination revealed no abnormality.

Figure 1

Clearly demarcated photoexposed parts showing signs of photoaging, multiple freckles, actinic keratosis-like lesions, and multiple exophytic plaques with surface ulceration and crusting

Figure 2

Freckles and actinic keratosis-like lesions predominantly over photoexposed parts, i.e., face and outer aspects of forearm

Based on the clinical picture and ocular findings, a diagnosis of oculocutaneous albinism was made. Hematological parameters, liver and renal function tests, and bleeding time were within normal limit. Histopathology from the suspected lesions over the lower back and right infra-clavicular area revealed a nodular infiltrating neoplasm, with tumor cells arranged in variable size nests with peripheral palisading suggestive of basal cell carcinoma [Figure 3].

Figure 3

Basaloid tumor cells arranged in organoid nests with peripheral pallisading and mitotic figures (H and E, ×40)

Melanin is a photoprotective pigment that protects the skin from the harmful effects of ultra-violet (UV) radiation. Its deficiency, therefore, predisposes skin to UV-induced damage, which includes sunburns, blisters, ephelides, solar elastosis, solar keratosis, basal cell carcinomas, and squamous cell carcinomas. Actinic keratoses have historically been considered as a precancerous condition with potential for developing into squamous cell carcinoma.[1] Albinos commonly develop squamous cell carcinoma.[23] Other less frequently encountered malignancies are basal cell carcinoma, dysplastic nevus, and melanoma. Basal cell carcinoma in albino skin is rarely reported in the Indian subcontinent and we could trace only one case report from India upon literature survey.[4] However, a study by Kiprono et al. revealed almost identical proportion of squamous cell carcinomas and basal cell carcinomas in African albinos.[5] Our patient had all features consistent with photodamage such as freckles, actinic keratosis, malignant lesions, predominantly affecting the photo-exposed parts of the body with histopathology consistent with basal cell carcinoma.

There is preferential expression of proliferative and cell regulatory markers in the lower portion of epidermis in actinic keratosis. Thus, basal cells possibly play a role in histogenesis of actinic keratosis.[6] The co-occurrence of basal cell carcinoma and actinic keratosis in our case further supports this hypothesis.

Although squamous cell carcinoma is the most common malignancy encountered in albinos, occurrence of basal cell carcinoma cannot be ignored, which has prognostic significance. Hence, close observation, regular follow-up, and biopsy of the suspicious lesion should be done at the earliest.

Declaration of patient consent

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.