Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1

NovelFHmutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

“…14 Cutis verticis gyrata or collagenoma has not previously been reported to be associated with MCUL. Our observation could suggest new clinical associations of rare hereditary disorders, similar to the reports of a strong association between cutis verticis gyrata and chromosomal and genetic abnormalities 15 or between collagenoma and genodermatosis linked to mutations in tumour suppressor genes like multiple endocrine neoplasia syndrome type 1 16 or PTEN hamartoma tumour syndrome. 17 Mutations of the FH gene have been identified in most cases of MCUL ⁄HLRCC: from 80% to 100%, depending on the series, and in 85% of the cases reported in the meta-analysis of Alam et al [6][7][8][9][10][11] Germline heterozygous mutations of the FH gene have been demonstrated to be related to decreased cytosolic and mitochondrial enzymatic activity of fumarate hydratase, as observed in our case, compared with that in healthy controls.…”

The Multiple Endocrine Neoplasia Type 1 (MEN1) Tumor Suppressor Regulates Peroxisome Proliferator-Activated Receptor γ-Dependent Adipocyte Differentiation

“…A large proportion of MEN1 patients also develop lipomas (8). Our results link the function of menin to the nuclear receptor PPAR␥.…”

Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene

“…It is also interesting that in our patient, a subcutaneous lipoma within the abdominal wall was detected and removed during surgery, because cutaneous and visceral lipomas are reportedly present in up to one third of patients with MEN 1 syndrome (Trump et al 1996). Also, cutaneous tumors have been suggested as possibly helpful indicators for presymptomatic screening of MEN 1 carriers (Darling et al 1997). Thus, all these findings in our patient might have met the current proposal for mutation screening even before the development of primary hyperparathyroidism, which was diagnosed 2 years after surgical removal of the pancreatic neuroendocrine tumor.…”