Verruciform Xanthoma Developing in Recessive Dystrophic Epidermolysis Bullosa

Abstract

A 23-year-old male affected of recessive dystrophic epidermolysis bullosa presented with a 2-month history of a growing verrucous plaque on the right flank. The clinical features and evolution suggested the diagnosis of cutaneous squamous cell carcinoma. Histopathological examination showed hyperkeratosis, parakeratossis, and verrucous acanthosis and numerous large xanthoma cells in the papillary dermis. Reflectance confocal microscopy disclosed the absence of epidermal atypia and the presence of aggregates of reflecting cells at dermal-epidermal junction and upper dermis. These cells were ultrastructurally characterized and corresponded to foamy histiocytes. Verruciform xanthoma is a benign reactive lesion that has occasionally been reported to develop in chronically eroded areas in patients with recessive dystrophic epidermolysis bullosa. In this group of patients, verruciform xanthoma may clinically mimic cutaneous squamous cell carcinoma and a correct diagnosis is crucial to avoid inappropriate aggressive therapeutic approaches. In vivo noninvasive image technologies such as reflectance confocal microscopy may be helpful diagnostic tools in this clinical setting.

Verruciform xanthoma in a patient with recessive dystrophic epidermolysis bullosa: Case report and literature review

“…Verruciform xanthoma in the context of RDEB was first noted in 1983 and since has been identified in seven other cases including the case reported here (Table ) . Repetitive epidermal and dermal damage from skin fragility in RDEB likely leads to degenerative change and macrophage infiltration, accounting for VX development .…”

“…Verrucous xanthoma (VX) is an uncommon, benign lesion presenting as a solitary yellow‐tan or erythematous plaque on a verrucous or granular surface likened to a raspberry . It may also have a pedunculated or papillomatous morphology .…”

“…Verrucous xanthoma (VX) is an uncommon, benign lesion presenting as a solitary yellow‐tan or erythematous plaque on a verrucous or granular surface likened to a raspberry . It may also have a pedunculated or papillomatous morphology . In most cases, it involves the oral mucosa, but extraoral presentations have been reported, most often anogenitally .…”

“…It may also have a pedunculated or papillomatous morphology . In most cases, it involves the oral mucosa, but extraoral presentations have been reported, most often anogenitally . Histologically, VX demonstrates papillomatosis, hyperkeratosis with columnar parakeratosis, and uniform elongation of the rete ridges with foamy histiocytic dermal infiltration .…”

“…In most cases, it involves the oral mucosa, but extraoral presentations have been reported, most often anogenitally . Histologically, VX demonstrates papillomatosis, hyperkeratosis with columnar parakeratosis, and uniform elongation of the rete ridges with foamy histiocytic dermal infiltration . The histiocytes may be subtle, and misdiagnosis as a verruca is possible if they are missed; these histiocytes contain periodic acid‐Schiff‐positive cytoplasmic granules …”