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  • Title: Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.
    Author: Gontijo JRV, Dos Santos WF, Gontijo B, Happle R.
    Journal: Pediatr Dermatol; 2018 Nov; 35(6):e353-e356. PubMed ID: 30168171.
    Abstract:
    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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