Delayed diagnosis of Gorlin's syndrome in a renal transplant recipient.
A 35-year-old woman was referred to the dedicated dermatology clinic for RTR. She underwent her first renal transplant at 18 years of age due to chronic renal failure following reflux nephropathy of the single right kidney (left kidney agenesis). She has since then had two further transplants. During clinical examination she was noted to have at least 16 basal cell carcinomas (BCC) and there are records in the case notes of 10 BCC having being excised and confirmed histologically in the past. By contrast, she had only had two squamous cell carcinomas (SCC) excised. She was also noted to have distinctive facial features, a kyphoscoliosis and palmar pits, and a diagnosis of Gorlin's (naevoid BCC) syndrome (GS) was made. Although immunosuppression may have contributed to the multiplicity of her BCC, the contrasting very small number of SCC is unusual in an organ transplant recipient and this alerted the authors to the diagnosis of GS.
Mackenzie
Katarzyna A
KA
Departments of Plastic and Reconstructive Surgery, Christchurch Hospital, Christchurch, New Zealand. macka176@student.otago.ac.nz
Maurice
Paul D L
PD
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects; D016030:Kidney Transplantation; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics
D007166:Immunosuppressive Agents