Dataset Information

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

ABSTRACT: FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in severe skeletal dysplasia, including thanatophoric dysplasia and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia. Insulin insensitivity and acanthosis nigricans are uncommonly seen in hypochondroplasia patients with FGFR3 mutations which may represent a new association. We aim to describe the association of hypochondroplasia, acanthosis nigricans, and insulin resistance in a child harboring FGFR3 mutation. To our knowledge, this is the first case report associating the p.N540 with acanthosis nigricans and the second to describe hyperinsulinemia in hypochondroplasia. This finding demonstrates the possible coexistence of insulin insensitivity and acanthosis nigricans in hypochondroplasia patients.

SUBMITTER: Mustafa M

PROVIDER: S-EPMC4255054 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Mustafa Manal M Moghrabi Nabil N Bin-Abbas Bassam B

Case reports in endocrinology 20141119

FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in ...[more]

PMID: 25505998

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Project description:Importance:Pacific Islanders have among the highest rates of obesity and type 2 diabetes in the world. Targeting children is critical for primary prevention. Objectives:To prevent young child overweight and obesity and to improve health in the US-Affiliated Pacific region via the Children's Healthy Living Program. Design, Setting, and Participants:In this multijurisdictional, multilevel, multicomponent community randomized clinical trial, where all evaluable children were analyzed according to the random assignment of their community, hierarchical difference-in-difference models accounted for the community randomization, community clustering with jurisdictions, and these models were adjusted for the age and sex distribution of the community. The setting was 27 communities in 5 jurisdictions (Alaska, American Samoa, Commonwealth of the Northern Mariana Islands, Guam, and Hawaii). Participants were 4329 children (time 1) and 4042 children (time 2) aged 2 to 8 years in 27 selected communities from October 7, 2012, to October 25, 2015. Data analysis was completed in June 2018. Interventions:Nineteen activities addressed policy, environment, messaging, training, and 6 target behaviors (sleep time, screen time, physical activity, fruits and vegetables, water, and sugar-sweetened beverages). Main Outcomes and Measures:Primary outcomes were body size measurements. Secondary outcomes were acanthosis nigricans, sleep quality and duration, dietary intake, physical activity, and other questionnaire reponses. Results:The study included 27 communities and 8371 evaluable children (mean [SD] age, 5.4 [1.8] years; 50.9% male [n?=?4264]). Data analysis included 952 children in the intervention group and 930 children in the control group aged 2 to 5 years at time 1; 825 children in the intervention group and 735 children in the control group aged 2 to 5 years at time 2; 565 children in the intervention group and 561 children in the control group aged 6 to 8 years at time 1; and 517 children in the intervention group and 560 children in the control group aged 6 to 8 years at time 2. The intervention communities showed significant improvement compared with control communities in overweight and obesity prevalence (effect size [d]?=?-3.95%; 95% CI, -7.47% to -0.43%), waist circumference (d?=?-0.71 cm; 95% CI, -1.37 to -0.05 cm), and acanthosis nigricans prevalence (d?=?-2.28%; 95% CI, -2.77% to -1.57%). Age and sex subgroup analysis revealed greater difference among the intervention communities in acanthosis nigricans prevalence in the group aged 2 to 5 years (-3.99%) vs the group aged 6 to 8 years (-3.40%), and the interaction was significant (d?=?0.59%, P?<?.001), as well as the smaller difference in the group aged 2 to 5 years (-0.10%) vs the group aged 6 to 8 years (-1.07%) in screen time (d?=?-0.97 hour per day, P?=?.01). Conclusions and Relevance:The intervention reduced the prevalence of young child overweight and obesity and acanthosis nigricans. Comprehensive, effective, and sustainable interventions are needed to improve child health in the US-Affiliated Pacific region. Trial Registration:ClinicalTrials.gov Identifier: NCT01881373.

Dataset Information

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Publications

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Similar Datasets

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