Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.

PEDIATRIC DERMATOLOGY(2018)

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摘要
Terminal osseous dysplasia is a rare, X-linked syndrome, presumptively embryonic lethal in males, which has recently been described with highly characteristic skin findings. The presence of intracytoplasmic inclusion bodies in fibroblasts has been considered an exclusive finding of infantile digital fibromatosis. This is the first report documenting digital fibromas with intracytoplasmic inclusion bodies in a classic case of terminal osseous dysplasia.
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关键词
digital fibromas,digitocutaneous dysplasia,filamin A mutations,intracytoplasmic inclusion bodies,terminal osseous dysplasia with pigmentary defects
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