Waelchi, R;
Williams, J;
Cole, T;
Dattani, M;
Hindmarsh, P;
Kennedy, H;
Martinez, A;
... Kinsler, V; + view all
(2015)
Growth and hormonal profiling in children with congenital melanocytic naevi.
British Journal of Dermatology
, 173
pp. 1471-1478.
10.1111/bjd.14091.
Preview |
Text
Waelchli_et_al-2015-British_Journal_of_Dermatology(1).pdf Download (1MB) | Preview |
Abstract
BACKGROUND: Multiple congenital melanocytic naevi (CMN) is a rare mosaic RASopathy, caused by post-zygotic activating mutations in NRAS. Growth and hormonal disturbances are described in germline RASopathies. Premature thelarche, undescended testes, and a clinically abnormal fat distribution with CMN prompted this study. METHODS: Longitudinal growth in a cohort of 202 patients with single or multiple CMN was compared to the UK Child Measurement Program 2010. Forty-seven children had hormonal profiles including measurement of circulating LH, FSH, TSH, ACTH, GH, PL, POMC, estradiol, testosterone, cortisol, thyroxine, IGF-I and leptin; ten had oral glucose tolerance testing; 25 had DXA scans for body composition. RESULTS: Body mass index increased markedly with age (coefficient 0.119, SE 0.016 SDS/year), at twice the rate of the UK population, due to increased adiposity. 3% of girls had premature thelarche variant and 6% of boys had persistent undescended testes. Both fat and muscle mass were reduced underlying large naevi, resulting in limb asymmetry and abnormal truncal fat distribution. Anterior pituitary hormonal profiling revealed subtle and variable abnormalities. OGTT revealed moderate-severe insulin insensitivity in 5/10, and impaired glucose tolerance in one. CONCLUSIONS: Inter-personal variation may reflect the mosaic nature of this disease and patients should be considered individually. Post-natal weight-gain is potentially related to the underlying genetic defect however environmental reasons cannot be excluded. Naevus-related reduction of fat and muscle mass suggest local hormonal or metabolic effects on development or growth of adjacent tissues, or mosaic involvement of these tissues at genetic level. Premature thelarche and undescended testes should be looked for, and investigated as for any child. This article is protected by copyright. All rights reserved.
Archive Staff Only
 |
View Item |
