Dermoscopy of Melanocytic Lesions in Patients Affected by Oculocutaneous Albinism: A Case Series

Abstract

Background: Although the majority of skin cancers in albino patients consists of squamous and basal cell carcinomas, malignant melanomas have also been described, albeit less frequently. Objective: The aim of our study was to evaluate melanocytic lesions in albino patients to look for any recurrent dermoscopic pattern. Methods: We enrolled 12 consecutive albino patients presenting to our department and examined each patient for the presence of melanocytic nevi with the unaided eye and then with dermoscopy. Melanocytic lesions with suspicious clinical or dermoscopic features were excised and histopathologically evaluated. Results: Analysis of the recorded images permitted us to find two main dermoscopic patterns in this group of patients. The first one was represented by a homogeneous light-brown yellowish pattern associated with comma-like and dotted vessels; the second one consisted of a classical brown reticular pattern frequently associated with central depigmentation and with comma-like vessels. Moreover, based on some atypical dermoscopic features, in 2 patients we excised 3 melanomas in situ (in the same patient) and a thick melanoma (3.2 mm). Conclusions: Dermoscopy may represent a useful tool for the evaluation of melanocytic lesions in albino patients, permitting an early diagnosis of melanoma.

Dermoscopy of naevi in patients with oculocutaneous albinism

“…found similar dermoscopic features: reticular or homogeneous pattern, light‐brown colour and central hypopigmentation. Subsequently, Caldarola et al . described two major dermoscopic patterns in a group of 12 patients with OCA.…”

“…Oculocutaneous albinism (OCA) encompasses a heterogeneous group of genetic disorders with abnormal melanin synthesis leading to absent or reduced pigmentation of the skin, hair or eyes . Patients with OCA have greater sensitivity to ultraviolet radiation and a predisposition to cutaneous malignancies, mostly squamous cell and basal cell carcinomas, but also melanomas …”

Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

“…Dear Editor , Herein we describe the usefulness of a successful combination of dermoscopy and in vivo reflectance confocal microscopy (RCM) for the early diagnosis of three amelanotic melanomas in two patients with oculocutaneous albinism (OCA). In OCA, rare autosomal recessive disorders of pigmentation, there is an absence or reduction of melanin in the skin, hair and eyes because of a partial or total deficit in the activity of TYR or other related genes …”

Dermoscopic features of a medium‐sized congenital melanocytic nevus in oculocutaneous albinism

“…Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by generalized absence or reduction of melanin biosynthesis due to total or partial deficit in the activity of tyrosinase in hair, skin, and eyes . Depending on the degree of activity of tyrosinase, pigmented lesions may develop throughout life in some albino patients.…”

“…However, there are limited data about dermoscopic features in albino patients. Caldarola et al . studied dermoscopic features of melanocytic nevi in 12 albino patients and recorded two dermoscopic patterns as homogeneous light brown–yellowish pattern with comma and dotted vessels and classical brown reticular pattern frequently associated with central depigmentation and comma vessels.…”