Case Report DOI: 10.7241/ourd.20132.50 Our Dermatol Online. 2013; 4(2): 208-211 Date of submission: 01.02.2013 / acceptance: 03.03.2013 Abstract A 32-year-old male with a history of albinism and farmer by occupation presented with an ulcerated plaque on the right wrist. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the plaque revealed a well- differentiated squamous-cell carcinoma. Wide surgical excision was done. The most common types of oculocutaneous albinism (OCA), OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair and eyes. Photodamage and skin cancers plague patients with albinism. Albinos face a myriad of social and medical issues. Importance of photoprotection, skin cancer surveillance and treatment has been stressed upon in this report. Key words: albinism; photoprotection; melanin; squamous cell carcinoma Introduction Albinism is a genetically inherited disorder characterized by hypopigmentation of the skin, hair and eyes due to a reduced or lack of cutaneous melanin pigment production [1]. Generally, there are two principal types of albinism, oculocutaneous, affecting the eyes, skin and hair, and ocular affecting the eyes only [1,2]. The mode of inheritance of albinism is thought to vary, depending on the type. The oculocutaneous type is considered autosomal recessive, and the ocular variant sex-linked [1-3]. Ocular problems faced by albinos are nystagmus, strabismus, photophobia, foveal hypoplasia and decreased visual acuity. The cutaneous problems seen with oculocutaneous albinism include sunburns, blisters, centro-facial lentiginosis, ephelides, solar elastosis, solar keratosis, basal cell carcinomas and squamous cell carcinomas. Squamous cell carcinoma has been reported to be the commonest skin malignancy seen in albinos [4,5]. Albinos are at an increased risk of developing skin malignancies due to the absence of melanin, which is a photo protective pigment, protecting the skin from the harmful effects of ultraviolet radiation [6]. Hence, a regular examination for early detection and treatment of these malignancies would increase their life expectancy to a great extent. We report here a case of oculocutaneous albinism with well-differentiated squamous cell carcinoma in a farmer and also review oculocutaneous albinism with emphasis on treatment and preventive aspects. Case Report A 32- year- old male, who was a known case of Oculocutaneous Albinism, presented with an ulcerated lesion over the right forearm. It started as a small wound which arised from normal looking skin and gradually increased to the present form over a period of six months. The patient was a farmer who had occupational sun exposure with no apparent photoprotection for the past ifteen years. History of photosensitivity and photophobia was present. He was born out of a non-consanguineous marriage. He had an elder sibling who was unaffected, but had an affected irst-degree relative. On physical examination, generalized depigmented skin with white hairs, brownish freckles and telangiectasia were seen on his body (Fig. 1 - 3). Ocular Examination revealed photophobia, nystagmus and decreased visual acquity. Ulcerated plaque measuring 4cm x 3 cm with crusting with rolled out edges was seen on the right wrist (Fig. 4a, b). It was ixed to the underlying tissues. Regional lymphadenopathy was absent. General physical and systemic examination was normal. www.odermatol.com Source of Support: Nil Competing Interests: None Cite this article: Belliappa Pemmanda Raju, Umashankar Nagaraju, Leena Raveendra, Vivekananda, Priya Kootelu Sundar, Lokanatha Keshavalu: Oculocutaneous albinism complicated with an ulcerated plaque. Our Dermatol Online. 2013; 4(2): 208-211. OCULOCUTANEOUS ALBINISM COMPLICATED WITH AN ULCERATED PLAQUE Belliappa Pemmanda Raju, Umashankar Nagaraju, Leena Raveendra, Vivekananda, Priya Kootelu Sundar, Lokanatha Keshavalu Department of Dermatology, Rajarajeswari Medical College and Hospital, Kambipura, Kengeri Hobli, Mysore Road, Bangalore – 560074, Karnataka, India Corresponding author: Ass. Prof. Belliappa Pemmanda Raju drbelliappa@gmail.com 208 © Our Dermatol Online 2.2013