Malignant Melanoma Arising in the Setting of Epidermolysis Bullosa Simplex

Abstract

To our knowledge, this is the first reported case of melanoma arising in EB simplex-affected skin. It highlights the difficulty in differentiating melanoma from an EB nevus. Despite the increasing awareness of EB nevi, a high index of suspicion for melanoma should be maintained, and early biopsy is recommended when evaluating large pigmented lesions in patients with EB.

Acantholytic-Like Pattern in a Recurrent Melanoma Mimicking Acantholytic Squamous Cell Carcinoma

“…4 It has been proposed that disruption or downregulation of some adhesion molecules (eg, desmoglein-1) may contribute to this phenomenon. 9,10 Our case has some similarities to the cases described in the literature, namely for its location, but it also has some peculiarities. 8 In addition, collision of a blister with melanoma has been reported in patients with bullous dermatoses (eg, Hailey-Hailey disease, epidermolysis bullosa), but this does not represent truly bullous melanoma.…”

Bullous Melanoma

“…7 The histopathological diagnosis of bullous melanoma usually does not pose particular problems. However, no other bullous lesions were present on the skin of these patients, and direct and indirect immunofluorescence studies were negative, thus, a concomitant bullous disorder could be excluded.…”

“…[1][2][3][4][5][6] In addition to these 6 patients, rare cases of melanoma arising in patients with epidermolysis bullosa or Hailey-Hailey disease have been described, 7,8 as well as 1 case of vesiculobullous metastatic melanoma. To the best of our knowledge, only 6 cases have been reported to date in patients without a concomitant bullous skin disorder.…”

Clinical, dermoscopic and histopathological features of melanocytic nevi in dystrophic epidermolysis bullosa

“…We report a case series of patients with DEB and multiple, clinically atypical melanocytic lesions. Even though EB nevi are generally benign and may regress spontaneously , melanoma should be included as one of the differential diagnostic consideration for melanocytic lesions in these patients. Since an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow‐up of EB patients with early histopathological evaluation of suspicious lesions is mandatory.…”