A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers.

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.

Mutations in two genes encoding cell cycle regulatory proteins have been shown to cause familial cutaneous malignant melanoma (CMM). About 20% of melanoma-prone families bear a point mutation in the CDKN2A locus at 9p21, which encodes two unrelated proteins, p16(INK4a) and p14(ARF). Rare mutations in CDK4 have also been linked to the disease.

Malignant blue nevus of the vulva with late ovarian metastasis.

We report a case of malignant blue nevus (MBN) of the vulva which led to an ovarian metastasis 15 years after the initial diagnosis. To our knowledge, this is the first report of MBN of the vulva. The patient was a 28-year-old woman with a nodule of the labia majora.

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.

Methylmalonic and propionic acidaemias are rare metabolic disorders with an autosomal recessive mode of inheritance. A number of aminoacidopathies may have cutaneous manifestations, but these are usually absent in methylmalonic and propionic acidaemia. We have studied 38 children with propionic and methylmalonic acidaemia in the last 10 years at the Hôpital Necker-Enfants Malades.