Growth and hormone profiling in children with congenital melanocytic naevi.

ABSTRACT:

Background

Multiple congenital melanocytic naevi (CMN) is a rare mosaic RASopathy, caused by postzygotic activating mutations in NRAS. Growth and hormonal disturbances are described in germline RASopathies, but growth and hormone status have not previously been investigated in individuals with CMN.

Objectives

To explore premature thelarche, undescended testes, and a clinically abnormal fat distribution with CMN through prospective endocrinological assessment of a cohort of subjects with CMN, and a retrospective review of longitudinal growth of a larger group of patients with CMN from outpatient clinics (which included all subjects in the endocrinological assessment group).

Patients and methods

Longitudinal growth in a cohort of 202 patients with single or multiple CMN

SUBMITTER: Waelchli R 

PROVIDER: S-EPMC4737097 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature