Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in <i>FGFR3</i>
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- Hirai Hiroki
- Division of Pediatrics, Shikoku Central Hospital, Ehime, Japan Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan
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- Hamada Junpei
- Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan
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- Hasegawa Kosei
- Department of Pediatrics, Okayama University Hospital, Okayama, Japan
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- Ishii Eiichi
- Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan
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Abstract
<p>Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been identified as the cause of some types of skeletal dysplasia, which is diagnostically useful. Here, we report the case of a 3-yr-old Japanese boy who presented with AN. His height, weight, head circumference, and arm span were 91.7 cm (–1.95 SD), 16.3 kg, 54.0 cm (+2.6 SD), and 88.0 cm, respectively. In addition to the AN, he also exhibited a mild height deficit and macrocephaly, which prompted a search for FGFR3 mutations, although no skeletal disproportion, exaggerated lumbar lordosis, or facial dysmorphism was observed, and only slight radiological abnormalities were noted. A definitive diagnosis of HCH was made based on FGFR3 gene analysis, which detected a heterozygous K650T mutation. Insulin insensitivity was not found to have contributed to the development of AN. In individuals with AN, careful assessments for symptoms of HCH are important, regardless of the presence or absence of a short stature, and FGFR3 gene analysis is recommended in such cases.</p>
Journal
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- Clinical Pediatric Endocrinology
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Clinical Pediatric Endocrinology 26 (4), 223-228, 2017
The Japanese Society for Pediatric Endocrinology
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Details 詳細情報について
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- CRID
- 1390282679459444608
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- NII Article ID
- 130006105777
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- ISSN
- 13477358
- 09185739
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- Text Lang
- en
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- Data Source
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- JaLC
- Crossref
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed