Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

Five to ten percent of individuals with melanoma have another affected family member, suggesting familial predisposition. Germ-line mutations in the cyclin-dependent kinase (CDK) inhibitor p16 have been reported in a subset of melanoma pedigrees, but their prevalence is unknown in more common cases of familial melanoma that do not involve large families with multiple affected members. We screened for germ-line mutations in p16 and in two other candidate melanoma genes, p19ARF and CDK4, in 33 consecutive patients treated for melanoma; these patients had at least one affected first or second degree relative (28 independent families). Five independent, definitive p16 mutations were detected (18%, 95% confidence interval: 6%, 37%), including one nonsense, one disease-associated missense, and three small deletions. No mutations were detected in CDK4. Disease-associated mutations in p19ARF, whose transcript is derived in part from an alternative codon reading frame of p16, were only detected in patients who also had mutations inactivating p16. We conclude that germ-line p16 mutations are present in a significant fraction of individuals who have melanoma and a positive family history.

Fluorescence photography in the evaluation of acne.

BACKGROUND: Quantification of acne remains a challenge. It may be difficult to identify lesions by standard flash photography. Previous studies have shown that foci of light in fluorescence photographs correspond to high protoporphyrin IX production by Propionibacterium acnes in open comedones, follicles, and inflammatory lesions. OBJECTIVE: Our purpose was to study the utility of fluorescence photography for evaluation of acne. METHODS: Forty subjects with mild to moderate acne vulgaris were randomly selected to apply either clindamycin 1% topical solution or vehicle twice daily. Counts of acne lesions and flash and fluorescence photographs were obtained at baseline, and at 4, 8, and 12 weeks. RESULTS: At 12 weeks, the treatment group had a larger percentage change in open comedones, less fluorescence in all areas assessed, and a larger percent decrease in fluorescence than the vehicle group. CONCLUSION: Fluorescence photography appears to be a useful tool to chart the course of acne treatment.

Familial cutaneous melanoma.

Family history is an important risk factor for cutaneous malignant melanoma. We evaluated the clinical characteristics of patients with cutaneous familial melanoma. A chart review was conducted, including all patients who presented to Massachusetts General Hospital Pigmented Lesion Clinic over an 8-year period. A total of 102 patients from 49 families were confirmed with shaving cutaneous melanoma. Eighty-two per cent had a personal and/or family history of dysplastic naevi. Within families, subsequent affected patients had thinner primary lesions with substantially lower median thickness than those diagnosed first. Seventeen per cent had multiple primary melanomas, with the median thickness of subsequent primaries being much lower than that of the first primary lesions. The mean thickness of primary lesions in patients with one primary lesion was marginally significantly greater than that in patients with multiple primaries. Verification of family history is essential given the implications of a positive family history. Screening family members of all patients with cutaneous melanoma and surveillance examinations for all patients with cutaneous melanoma is recommended.

Burn depth estimation by use of indocyanine green fluorescence: initial human trial.

Indocyanine green dye (ICG) fluoresces when illuminated by infrared light. After successful trials in a porcine model and with approval of the Massachusetts General Hospital's human studies committee, 10 adult patients with burn injuries were given 0.2 mg/kg ICG intravenously, and 825 nm fluorescence images were obtained with 780 nm excitation at 5 minutes after injection in the initial five patients and at 1, 2, 3, 4, 5, and 10 minutes in the subsequent five patients. Fluorescence intensities at burned and unburned sites were determined and images were correlated with burn depth as determined by healing or intraoperative assessment. In the latter five patients, seven sites were imaged (six that were of partial thickness and one that was of full thickness). The burn/normal skin fluorescence ratio was greater than 1 for superficial burns and less than 1 for deep burns. Imaging within 5 minutes of injection resulted in optimal contrast between injured and uninjured tissue. In this initial pilot trial it is apparent that ICG fluorescence has potential value as an aid in the early estimation of burn depth. In subsequent trials we will attempt to refine our ability to correlate ICG fluorescence images with burn depth.