An Australian cohort of 210 patients with multiple invasive squamous cell carcinomas: risk factors and associated increased risk of melanoma and internal malignancies.

BACKGROUND: Patients with a history of non-melanoma skin cancer (NMSC) have a 50% risk of developing subsequent NMSC.(13) Currently there are limited data on the association between multiple squamous cell carcinomas (SCC) and the risk of other cancers, including melanomas. OBJECTIVE: To assess the risk factors in a cohort of 210 Australians with a history of multiple invasive SCC, focusing on the association between multiple SCC and other cancers. METHODS: Data were collected from patients of a private practice in south-east Queensland. RESULTS: A fair complexion and childhood sun exposure were found to be common in this cohort. Approximately half the patients who had their first SCC at or before the age of 30 years subsequently developed a melanoma. There was also an increased risk of internal cancer, prostate cancer being the commonest, followed by bowel and breast cancer. CONCLUSION: Patients with a history of multiple invasive SCC should be aware of their increased risk of future NMSC and of melanomas. The results of thisstudy suggest such patients and their care providers should also consider an appropriate screening for internal malignancies.

Dermoscopy, reflectance confocal microscopy and histopathology of a melanoma in situ from an individual homozygous for GSTP1*105Val/MC1R*92Met.

Glutathione S-transferase 1 is an enzyme involved in the detoxification of reactive oxygen species, and the rs1695*Val polymorphism has been proposed as a melanoma-associated variant with significant effect. We report a case of malignant melanoma in an individual homozygous for the rs1695*Val variant and discuss the non-invasive and histopathological tools used in diagnosis.

Retrospective chart review in a cohort of patients with urticarial dermatitis.

Urticarial dermatitis is a poorly understood skin condition while it seems to be much more common than the paucity of reports suggest. It manifests with severely pruritic papules and plaques that resemble eczematous and urticarial lesions morphologically. The key clues to diagnosis are the urticarial appearance and overlap with an eczematous reaction. Here, we present a series of 19 cases (13 women and six men) with urticarial dermatitis clinically and histologically. The patients' average age was 58 and most of the cases were idiopathic. Trunk and proximal extremities were the most common sites involved followed by the distal extremities. Poor response to potent topical corticosteroids and antihistamines was usual and many patients required oral prednisone or other immunosuppressant agents or phototherapy.

Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.

A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and 430; in addition, all were multiple primary melanoma patients. The predominant dermoscopic signature pattern of nevi was reticular, and the frequency of globular nevi in carriers varied, which does not suggest that the MITF E318K mutation acts to force the continuous growth of nevi. Excised melanocytic lesions were available for four MITF E318K carrier patients and were compared with a matched range of wild-type (WT) melanocytic lesions. The MITF staining pattern showed a predominant nuclear signal in all sections, with no significant difference in the nuclear/cytoplasmic ratio between mutation-positive or -negative samples. A high incidence of amelanotic melanomas was found within the group, with three of the five melanomas from one patient suggesting a genetic interaction between the MITF E318K allele and an MC1R homozygous red hair color (RHC) variant genotype.