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Delayed diagnosis of Gorlin's syndrome in a renal transplant recipient
Author(s) -
Mackenzie Katarzyna A,
Maurice Paul DL
Publication year - 2009
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2009.00520.x
Subject(s) - medicine , kyphoscoliosis , transplantation , reflux nephropathy , basal cell nevus syndrome , immunosuppression , kidney transplantation , kidney , surgery , pathology , dermatology , basal cell carcinoma , basal cell , reflux , disease , vesicoureteral reflux , scoliosis
ABSTRACT 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.