DOI: http://dx.doi.org/10.18203/issn.2454-2156.IntJSciRep20180397

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

Shashank Bhargava, Ujjwal Kumar, Richa Rokde

Abstract


Pigmentation of skin is a feature which is governed by multiple factors including the number of melanocytes, their metabolic activity of the melanocytes, the melanogenic activity of the melanosomes and lastly the morphology and differentiation of the melanosomes “Squamous cell carcinoma” (SCC) of sun-exposed skin is the most frequently observed malignancy among Albinos. It is ultimately due to lack of Eumelanin which guards against both the sunlight as well as oxidative stress-induced DNA damage. A 41 year old albino male patient presented with multiple asymptomatic raised skin lesions of different morphology and dimensions over scalp, neck, behind right ear and back with duration of 7 years. The initial lesion developed as a small papule over scalp which gradually progressed to present size and later appeared before the right ear, neck and lastly over the back. On examination, the initial lesion over scalp was verrucous plaque with adherent crusting, while other lesions were indurated, non-tender ulcers with irregular margins and punched out edges. There are few whitish raised scaly papules and plaques over the back. Routine investigations were within normal limits. Histopathology findings from the neck revealed squamous epithelium with tumour cells infiltrating the underlying stroma. Tumour cells showed pleomorphism, increased N:C ratio, hyperchromatic nuclei, prominent nucleoli and keratin pearls. Histopathology findings from the scaly lesion over the back revealed mild hyperkeratosis with dysplasia of the basal keratinocytes and prominent solar elastosis in the superficial dermis. Based on clinical and histopathogical findings, diagnosis of multiple SCC with actinic keratosis was made. Patient was referred to oncosurgeon for further management. Early detection and prompt treatment of the disease is required to reduce the spread to other parts of the body along with photo-protection all throughout life. 


Keywords


Oculocutaneous albinism, Squamous cell carcinoma, Actinic keratosis

Full Text:

PDF

References


Fitzpatrick TB. The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol. 1988;124:869-71.

Feller L, Masilana A, Khammissa RA, Altini M, Jadwat Y, Lemmer J. Melanin: the biophysiology of oral melanocytes and physiological oral pigmentation. Head Face Med. 2014;10:8.

Manga P, Kerr R, Ramsay M, Kromberg JG. Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. S Afr Med J. 2013;103:984-8.

de Vijlder HC, de Vijlder JJ, Neumann HA. Oculocutaneous albinism and skin cancer risk. J Eur Acad Dermatol Venereol. 2013;27:433-4.

Mapurisa G, Masamba L. Locally advanced skin cancer in an albino, a treatment dilemma. Malawi Med J. 2010;22:122–3.

Wood NH, Khammissa R, Meyerov R, Lemmer J, Feller L. Actinic Cheilitis: A Case Report and a Review of the Literature. Eur J Dent. 2011;5:101–6.

Nikolaou V, Stratigos AJ, Tsao H. Hereditary Nonmelanoma Skin Cancer. Semin Cutan Med Surg. 2012;31:204–10.

Hawkes JE, Cassidy PB, Manga P, Boissy RE, Goldgar D, Cannon-Albright L, et al. Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. J Dermatol Sci. 2013;69:30-7.

Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet. 2013;84:91-3.

Andreassi L. UV exposure as a risk factor for skin cancer. Expert Rev Dermatol. 2011;6:445-54.