Rare Diseases Symptoms Automatic Extraction

Epidermolysis bullosa nevus in a patient with recessive dystrophic epidermolysis bullosa: a case report.

[dystrophic epidermolysis bullosa]

: We present a case of a 6-year-old girl with recessive dystrophic epidermolysis bullosa (EB) who presented with a large pigmented lesion clinically concerning for melanoma. After histological examination and fluorescent in situ hybridization analysis, diagnosis of EB nevus was performed. EB nevi are benign melanocytic neoplasms with histological findings similar to recurrent nevi occurring in all types of EB. They often mimic melanoma clinically, dermatoscopically, and histopathologically. The ability to recognize an EB nevus is essential for appropriate management of the patient. Unnecessary surgical excision in patients with already high-risk EB should be avoided. Close monitoring of these lesions is recommended because no cases of transformation to melanoma have been described.

Diseases presenting "large pigmented lesion" symptom

  • dystrophic epidermolysis bullosa

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