A Non-Epidermolytic Epidermal Naevus of a Soft, Papillomatous Type with Transitional Cell Cancer of the Bladder: A Case Report and a Review of Non-cutaneous Cancers Associated with the Epidermal Naevi

Abstract

Sir, We describe here the case of a man aged 65-years at our first examination with non-epidermolytic epidermal naevus of a soft, papillomatous type covering large areas of the left side of his body and scalp. He reported bilateral hearing loss and earlier frequent mastoiditis. He was of short stature and had had dyspnoea since childhood affecting his sporting activities, reduced touch sensation on the soles of his feet and reduced vibration sensitivity of his toes. His upper teeth were extracted at a young age. He had had amblyopia of the left eye since childhood and an attack of paralysis of that eye. At the age of 22 years, an asymptomatic gross haematuria was discovered caused by a large bladder papilloma at the opening of the left ureter. Lost to follow-up, he presented 2 years later with intermittent gross haematuria and a cancer at the same site. The cancer was confirmed by our review of the pathological report to be of a transitional cell type. The patient had no familial history of epidermal naevi. The term “epidermal naevus syndrome” has, in the past, been used to refer to the association between epidermal naevi and abnormalities in other organ systems (1). Several distinct birth defects have been lumped together under this designation (2). All epidermal naevus syndromes are mosaic phenotypes (2). Because of the understanding of the concepts of genetic mosaicism, that there are potentially many different epidermal naevus syndromes, or syndromes of which an epidermal naevus is a cutaneous feature, it has been argued that the term “epidermal naevus syndrome” to describe a disease entity should be abandoned (3, 4). Thus far, at least 7 different epidermal naevus syndromes have been identified; viz., naevus sebaceous syndrome, Proteus syndrome, CHILD syndrome, naevus comedonicus syndrome, Becker naevus syndrome, phakomatosis pigmentokeratotica (5, 6); and the last one was first described by Schauder et al. (7) and later termed “angora hair naevus syndrome” (1). A Non-Epidermolytic Epidermal Naevus of a Soft, Papillomatous Type with Transitional Cell Cancer of the Bladder: A Case Report and a Review of Non-cutaneous Cancers Associated with the Epidermal Naevi