Epidermolysis Bullosa Nevi -A Concept of Awareness
Vessel Kantarjiev1,
Todor Yordanov1,
Valentina Broshtilova1,2*
1Department of
Dermatology and Venereology, Military Medical Academy, Sofia, Bulgaria
2Department of
Infectious diseases, parasitology and dermatovenereology, Medical University,
Bulgaria
*Corresponding author: Valentina
Broshtilova, Department of Dermatology
and Venereology, Military Medical Academy, Sofia, Bulgaria. Tel: +359888257905;
Email: broshtolova@mail.bg
Received Date: 17 December, 2018; Accepted Date: 18 January, 2019; Published
Date: 28 January, 2019
Citation: Kantarjiev V, Yordanov T, Broshtilova V(2019) Epidermolysis
Bullosa Nevi - A Concept of Awareness. Int J Clin Pathol Diagn: IJCP-127. DOI:
10.29011/2577-2139.000027
Melanocytic nevi are benign hamartomatous proliferations of
melanocytes. Large, irregular, asymmetric melanocytic lesions, frequently
suggestive of melanoma, often evolve in patients with epidermolysis bullosa,
hence, making the clinical and dermoscopic differentiation extremely
unequivocal. Herein, we critically approach the concept of “epidermolysis
bullosa nevi”, describing a 26-year-old Caucasian woman with epidermolysis
bullosa simplex, multiple dysplastic nevi on sites of pre-existing
vesicular-bullous exanthema, and a rapidly growing melanocytic proliferation on
her back, excised and verified as a malignant melanoma. A high index of
suspicion is always needed despite the widely accepted hypothesis of more
benign nature of melanocytic tumors in all patients with epidermolysis bullosa.
Keywords: Dermoscopy; Epidermolysis Bullosa Nevi; Malignant Melanoma
1. Introduction
Epidermolysis Bullosa (EB) represents a heterogeneous group of
hereditary bullous dermatoses due to intrinsic defects of the basement membrane
zone structural components [1]. Those patients often
develop large, irregular, rapidly growing nevi with clinical features of
atypical melanocytic proliferations on sites of pre-existing vesiculo-bullous eruption [2]. The pigmented lesions often show clinical and dermoscopic
features of malignancy, such as asymmetry, irregular borders, and color
variegation, however, a malignant transformation has been randomly
described [3]. Thus, the hypothesis of “EB nevi” that
recommends a more conservative management strategy of close clinical, dermoscopic
and occasionally histologic examinations for EB patients, was introduced [4]. Herein, we present a case of malignant melanoma, arising in a
patient with EB simplex, to highlight the importance of critically approach all
patients, irrelevant to previous clinical entity labels and controversy.
2. Case Report
A 26-year-old Caucasian female with multiple dysplastic nevi
referred to our Department for routine examination. The patient was clinically,
histologically and immunofluorescently diagnosed with EB simplex since birth.
She experienced multiple vesiculo-bullous eruptions on sites of mechanical
trauma. Most of her melanocytic lesions appeared on such previously affected
areas. In the last six months she noticed an enlarging and changing color mole
on the right subscapular zone (Figure 1). Dermoscopy showed
multicomponent pattern with irregular form and structure of the lesion, uneven
net with sharply outlined borders and globules with different calibers.
Multiple colors of red, light brown, dark brown, blue and white, were also seen(Figure 2). Histological sample displayed a wide non-circumscribed
melanocytic lesion presented by atypical fusiform melanocytes with vertical,
upward, pagetoid spreading, and horizontal bridging that penetrated into the
papillary dermis (Figure 3). Nests of pre-existing dermal nevus were seen
at the periphery of the specimen.
A superficial spreading melanoma (Clark II, Breslow 0,25mm),
without ulceration and active stromal reaction, arising on the site of pre-existing
dermal melanocytic nevus, was concluded. Immunohistochemical markers confirmed
the pigmented character of the lesion and showed medium to high proliferative
index. On account of the localization, size, clinical and dermatoscopic
features, the lesion was radically removed.
3. Discussion
EB is an inherited mechano-bullous disorder with multiple variations, characterized by chronic relapsing course and numerous complications such as infections, joint and
gastro-intestinal damage, non-melanoma skin tumors, etc[5]. Large, eruptive, asymmetrical nevi have been described to
appear on sites of vesicules and blisters in EB patients[6]. Initially reported in generalized atrophic benign EB, multiple
nevi seem to be a frequent phenomenon in all EB patients, thus suggesting the
hypothesis of “EB nevi” [7]. Two pathogenetic mechanisms seem to play
crucial role in the development of the pigmented lesions. First, the higher
proliferation index of the affected keratinocytes on the sites of repetitive
disruption, promote local nevus cell nests or individual melanocytes to undergo
simultaneous proliferation. Second, the free-floating melanocytes in the cavity
of the EB blister migrate and settle at its periphery to proliferate in the
micro environment of the surrounding regenerating keratinocytes. A burst of cytokines
and growth factors have been detected at the sites of such vesiculo-bullous
defects – hepatocyte growth factor, interleukin 8, granulocyte-macrophage
colony-stimulating factor, prostaglandin E2, and leukotriene 4, thus
potentially enhancing melanocytic proliferation [8].The eruption of various melanocytic lesions is of significant
clinical importance, since they may act as simulators and precursors of
malignant melanoma. Of note, some clinical and dermoscopic observations have
shown more benign character of EB nevi [9]. A 24-month
follow-up of EB patients showed that suspected lesions undergo clinically and
dermoscopic spontaneous involution [10].
4. Conclusions
Based on the clinical, dermoscopic and histologic features, EB nevi can be considered a peculiar group of melanocytic proliferations. An expertise dermatologist has to be aware of their specificity in order not to be tempted to establish a more aggressive diagnosis and treatment. A close clinical and dermoscopic review is more secure and convenient strategy for these fragile dermatological patients. On the other hand, mislead by the benign prognosis of EB nevi, the clinician risks to underestimate some melanocytic lesions with malignant nature. This is highly relevant to EB cases with pre-existing history of benign nevi with spontaneous regression. Therefore, we recommend an attentive clinical and dermoscopic follow-up for each pigmented lesion arising in EB patient.
Figure 1: Irregular, asymmetrical lesion on
the right subscapular area of the patient.
Figure 2: Dermoscopic features of the
pigmented lesion.
Figure 3: Histological findings of superficial spreading melanoma.
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