Epidermal naevus syndrome (Solomon's syndrome) associated with bladder cancer in a 20‐year‐old female

Abstract

Epidermal naevus syndrome was first described by Solomon et al. in 1968, based on a study of 12 patients. Herein we report the case of a 20-year-old female diagnosed with epidermal naevus syndrome at the age of 3 years. Subsequently she experienced several different symptoms and at the last exploration a suspicious lesion was found in her bladder. The definitive pathology diagnosis was transitional cell carcinoma of the bladder, which is extremely rare in patients aged <21 years. It seems that this neoplastic lesion was directly related to the essential pathology of the patient, namely epidermal naevus syndrome.

Mosaicism of activatingFGFR3 mutations in human skin causes epidermal nevi

“…A female patient with a mosaicism of R248C (25% of the blood lymphocytes were affected by the mutation) developed disseminated thickening and hyperpigmentation of the skin consistent with acanthosis nigricans (37). (d) Some patients with epidermal nevus syndrome showed typical keratinocytic epidermal nevi, skeletal abnormalities, and the occurrence of urothelial carcinoma at an early age (38)(39)(40). This correlation of epidermal nevus and urothelial carcinoma is thought to be nonstochastic.…”

“…The occurrence of papillary bladder cancer and skeletal abnormalities in epidermal nevus syndromes (38)(39)(40) suggests that FGFR3 is a promising candidate gene for epidermal nevus syndromes that may be caused by a more widespread mosaicism of FGFR3 mutations. If the FGFR3 mosaicism involves the germ cells in those patients, the offspring should show a TD phenotype.…”

The group of epidermal nevus syndromes

“…Other authors continue to believe that epidermal nevi are simply variants of each other, and that ENS represents one entity. [7][8][9][10][11][12][13][14][15][16][17][18][19] From a genetic point of view, such unitarianism is no longer acceptable. 5,20 The purpose of this overview is to make clinicians familiar with this group of disorders, to improve their diagnostic skills in discriminating nine well defined ENSs, and to inform them on several other, less well established ENSs that may so far be regarded as being ''in limbo.''…”

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

“…Of even greater interest, an undoubted mosaic FGFR3 mutation has been reported in a patient showing multiple EN, seizures and mental retardation 6. The higher risk of cancer conferred by mosaic mutations in FGFR3 or PIK3CA is all the more plausible since several cases of young patients harbouring both EN and low-grade bladder cancers have been reported (case report and review by Garcia de Jalon et al 19). To our knowledge, rhabdomyosarcoma has been associated with EN in only two patients 7 20.…”