Diagnostic accuracy of reflectance confocal microscopy for lesions typified by dermoscopic island.

INTRODUCTION: Dermoscopic island (DI) is a dermoscopic clue for the diagnosis of thin melanoma (MM). However, its positive predictive value is about 50% and several naevi with DI are unnecessarily excised. Reflectance confocal microscopy (RCM) is a second level non-invasive imaging tool that increases diagnostic accuracy for MM. OBJECTIVE: To evaluate diagnostic RCM features of pigmented lesions typified by the presence of DI and calculate RCM diagnostic accuracy for MM diagnosis. METHODS: All lesions with DI were retrieved from a database of 1964 cases. RCM diagnoses were given without being aware of the histopathological diagnoses. The number of MMs among lesions presenting with DI and the sensitivity and specificity of RCM for MM were assessed. The frequencies of dermoscopic and RCM features were calculated to evaluate significant differences in naevi and MMs showing DI (Chi-square test). Independently significant RCM criteria for MM were identified by discriminant analysis. RESULTS: Sixty-three (3.2%) out of 1964 lesions presented DI. Among them, 30.2% were in situ MMs and 12.7% invasive MMs. Sensitivity and specificity of RCM for the diagnosis of MM in case of DI was 88.9%. Pagetoid cells (Wilks' lambda .804, P < 0.001) and atypical cells at dermo-epidermal junction (Wilks' lambda .762, P < 0.001) were identified to differentiate MM from naevi. CONCLUSION: Our study confirmed that DI could be a sign of early MMs and underlined that RCM could be a good tool to discriminate MMs and naevi in the presence of DI because it can identify the presence of cytological atypia.

Nail-patella syndrome: report of 11 pediatric cases.

BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital. METHODS: We retrospectively reviewed our clinical database of 11 patients with proven diagnosis of NPS from 1977 to 2014. Clinical and radiological features were assessed. RESULTS: Eleven children (seven male/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0-11 years). Five patients had a family history of NPS. All patients had nail abnormalities (100%), the most frequent finding being hyponychia. Triangular lunulae were observed in four patients. The knee was the most commonly affected joint, aplasia or hypoplasia of the patella being the most usual findings. Only one patient presented renal involvement. The genetic study revealed three different LMX1B mutations. CONCLUSION: Nail-patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the NPS.