Dermatology: Practical and Conceptual


Letter  |  Dermatol Pract Concept 2020;10(3):e2020051 1

Dermatology Practical & Conceptual

Introduction

Oculocutaneous albinism (OCA) is a group of autosomal 

recessive disorders characterized by defective melanin biosyn-

thesis due to full or partial reduction in tyrosinase activity, 

which results in congenital depigmentation or hypopigmen-

tation of the hair, skin, and eyes despite the normal number 

of melanocytes. In OCA, reduced or absent protection of 

melanin leads to sensitivity to ultraviolet radiation and a 

predisposition to skin cancers. Dermoscopic features of mel-

anoma in patients with OCA have been reported in a few case 

studies. Here we report dermoscopic findings of an invasive 

melanoma arising from nevus in a patient with OCA.

Case Presentation

A 32-year-old female patient with OCA1 presented with a 

cutaneous lesion that had been enlarging for about a year. 

She stated that there was an asymptomatic pinkish plaque 

existing since childhood at the same location. The patient 

had hypomelanotic skin, blonde hair, blue-gray irides, and 

bilateral nystagmus. Dermatological examination revealed 

multiple pinkish papules surrounding a main central tumoral 

lesion over the right forearm (Figure 1). Dermoscopy of the 

lesions showed central yellow to orange structureless areas, 

central hemorrhagic crust, a peripheral arrangement of large 

yellow to orange clods and structureless areas, and polymor-

phous vessels including linear, curved, and complex looped 

vessels (Figure 2). An incisional biopsy was made with prelim-

inary diagnoses of cutaneous sarcoidosis, leishmaniasis, and 

cutaneous lymphoma. Histopathological examination of the 

incisional biopsy specimen revealed epidermal consumption, 

superficial dermal mononuclear inflammatory infiltration, a 

few bland-looking dermal nevus nests, and atypical melano-

cytic infiltration filling the lower half of the papillary dermis 

and reticular dermis with numerous mitoses, including atypi-

cal ones. No maturation was observed. Breslow thickness was 

2.3 mm. Immunohistochemically, tumor cells were stained 

with HMB-45, Melan-A, and S-100 (Figure 3). A diagnosis of 

amelanotic nodular melanoma was made and a total excision 

with 2-cm margins was performed. No lymph node involve-

ment and metastasis were detected.

Conclusions

Melanomas in patients with OCA are rare and usually amela-

notic. Unfamiliar clinical and dermoscopic findings may cause 

diagnostic delay, which is usually associated with poor prog-

Dermoscopy of Amelanotic Melanoma in a Patient 
With Oculocutaneous Albinism

Belkis Uyar,1 Ömer Faruk Elmas,1 Asuman Kilitçi,2 Murat Tad2

1 Department of Dermatology and Venereology, Ahi Evran University, Kirşehir, Turkey
2 Department of Pathology, Ahi Evran University, Kirşehir, Turkey

Key words: oculocutaneous albinism, melanoma, dermoscopy

Citation: Uyar B, Elmas ÖF, Kilitçi A, Tad M. Dermoscopy of amelanotic melanoma in a patient with oculocutaneous albinism. Dermatol 
Pract Concept. 2020;10(3):e2020051. DOI: https://doi.org/10.5826/dpc.1003a51

Accepted: February 23, 2020; Published: June 29, 2020

Copyright: ©2020 Uyar et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, 
which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Funding: None.

Competing interests: The authors have no conflicts of interest to disclose.

Authorship: All authors have contributed significantly to this publication.

Corresponding author: Ömer Faruk Elmas, MD, Department of Dermatology and Venereology, Faculty of Medicine, Ahi Evran University, 
Kirşehir 40000, Turkey. Email: omerfarukmd@gmail.com

https://doi.org/10.5826/dpc.1003a51
mailto:omerfarukmd@gmail.com


2 Letter  |  Dermatol Pract Concept 2020;10(3):e2020051

References

1. Peralta R, Sabban EC, Friedman P, et al. 

Proposal for management and dermosco-

py follow-up of nevi in patients affected 

by oculocutaneous albinism type Ia. Der-

matol Pract Concept. 2017;7(1):39-42. 

https://doi.org/10.5826/dpc.0701a07

2. Caldarola G, Fania L, Fossati B, et al. 

Dermoscopy of melanocytic lesions in 

patients affected by oculocutaneous al-

binism: a case series. Dermatology. 

2013;226(4):358-361. https://doi.org/10. 

1159/000351315 

linear vascular structures should prompt 

to exclude melanoma and other malig-

nancies. Knowing the possible der-

moscopic presentations of melanoma 

and the other tumors in patients with 

OCA may lead to early diagnosis and 

favorable prognostic outcomes. Age, 

location, ulceration, Breslow thickness, 

mitosis rate, and vascular invasion are 

the indicators of prognosis of melanoma 

in OCA as they are in any other type of 

melanoma.

nosis. Furthermore, nevi in patients with 

OCA may have a similar dermoscopic 

pattern to that described for amelanotic 

melanoma [1].

Only a few studies have reported 

dermoscopic findings of melanoma in 

patients with OCA. Irregular dots, glob-

ules, blue-white veil, peripheral arciform 

vessels, and milky red areas were the der-

moscopic features reported in the study 

of Caldarola et al [2]. The present case 

had a different dermoscopic presenta-

tion. A central core of orange structure-

less areas surrounded by large yellow to 

orange clods and polymorphous vessels 

including linear, curved, and complex 

looped ones composed the main pic-

ture. All previously described cases of 

amelanotic melanomas in patients with 

OCA predominantly demonstrated a 

polymorphous vessel pattern.

Patients with OCA may have numer-

ous pinkish lesions, and it can be very 

difficult to differentiate melanoma from 

benign lesions. In this context, dermo-

scopic examination can be life-saving. 

Dermoscopic analysis in patients with 

OCA is mainly based on the vascular 

structures because of the lack of pig-

mentation [1]. Pink nevi usually demon-

strate only curved and comma vessels, 

while isolated lesions with dotted and 

Figure 2. (A) Handheld polarized dermoscopy shows central yellow to orange structureless 

areas, central hemorrhagic crust, peripheral arrangement of large yellow to orange clods and 

structureless areas, and (B,C) linear, curved, and complex looped vessels.

Figure 3. Histopathological examination. (A) Epidermal consumption, superficial dermal 

mononuclear inflammatory infiltration, and atypical melanocytic infiltration (H&E, ×200). 

(B) High power shows malignant melanocytes (black circles), atypical mitosis (white cir-

cle), and mononuclear inflammatory infiltration (blue circle) (H&E, ×400). (C) Diffuse 

staining with Melan-A (×200). (D) Bland-looking dermal nests indicating underlying nevus 

(H&E, ×400).

Figure 1. Multiple pinkish papules sur-

rounding a main central tumoral lesion over 

the right forearm.

https://doi.org/10.5826/dpc.0701a07
https://doi.org/10.1159/000351315
https://doi.org/10.1159/000351315