[The role of new molecular tests in the diagnosis of melanoma in a setting of congenital nævus in an infant]. / Apport des nouveaux tests moléculaires dans le diagnostic d'un mélanome sur nævus congénital chez un nourrisson.

INTRODUCTION: Congenital and infantile melanomas are extremely rare. We report a case of a child presenting at birth with a giant congenital nevus complicated by melanoma and on long-term follow-up with exploration using new immunohistochemistry and molecular biology tools. OBSERVATION: A new-born girl presented at birth with a large congenital cervico-mandibular tumour with para-pharyngeal extension and underlying osteolysis. At 7 months, histology and immunohistochemistry of the operative specimen revealed nodules with atypical features (mitotic figures, necrosis and positive expression of KI67 and P53 in approximatively 50 % of the melanocytic nuclei). A diagnosis was made of infantile melanoma associated with congenital nevi. Repeated surgery and monitoring (clinical and imaging) were performed. At the age of 7 years, as there was no evidence of metastatic lesions, further analyses were performed on the initial operative specimen. Investigation of transcription factor expression using immunohistochemistry, comparative genomic hybridization and histology-guided mass spectrometry, although suspect, did not in itself support a diagnosis of melanoma. Finally, at the age of 7 years, hepatic and pulmonary metastases were reported. Despite combined immunotherapy with ipilimumab and nivolumab, the child died 5 months later. CONCLUSION: This case illustrates the complexity of diagnosis of infantile melanoma and the risk of metastatic involvement long after the initial diagnosis. Diagnosis may be difficult and necessitates expert advice and the application of several recent methods to reach a conclusion and initiate appropriate treatment.

[Epidemiology of malformations associated with cleft lip and palate: a retrospective study of 324 cases]. / Épidémiologie des malformations associées aux fentes labiales et palatines à propos d'une étude rétrospective de 324 cas.

PURPOSE: Children with cleft lip and/or palate may have associated malformations, whether or not they are included in a syndromic form. This study's purpose was to provide a better understanding of the epidemiology and distribution of malformations and syndromes associated with these clefts. METHODS: Retrospective study of 324 patients with cleft lip or palate born between 1994 and 2011. The associated malformations were diagnosed during the 1st year of life. RESULTS: Cleft lip or labioalveolar clefts were less frequently associated with other malformations than cleft palate. These nonsyndromic malformations preferentially affected the urogenital and renal system in case of cleft palate (48.5%) and the cardiovascular system for clefts with a lip defect (30.5%). The syndromic forms were rare in the cleft lip and labioalveolar clefts (3.47%). In contrast, cleft palate appeared much more frequently included in a syndromic form, with 52 children out of 151 (34.4%). The Pierre-Robin sequence was the most frequent syndrome with more than 25% of the cleft palate population. The defect of the palate was associated with a higher rate of other malformations or syndromes (36.51% vs 29.9% for the entire population with a cleft) (n=324) (P<0.001). CONCLUSIONS: The distribution of malformations appears to be linked to the type of cleft. These findings underline the importance of conducting a systematic neonatal malformation workup in children born with clefts in order to diagnose abnormalities and organize effective and consistent management.