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01-12-2013 | Case Reports

Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report

Authors: Marisa Cabrera González, Laura M. Pérez López, Diego Gutiérrez de la Iglesia, Carlota Rovira Zurriaga, Loreto Martorell Sampol, Antonia González Enseñat

Published in: HAND | Issue 4/2013

Excerpt

Digitocutaneous dysplasia, also termed osseous terminal dysplasia with pigmentary defects, is a recently described pathology. In 1974, Bloem et al. [5] discussed the association between digital fibromas and pigmentary lesions. In 1998, Horii et al. [13] published a case report with similar characteristics associated with facial dysmorphia and metacarpal involvement. These authors were the first to describe a syndrome that embraced all these features. Recently, in 2010, Sun et al. [28] published the etiology of this pathology, FLNA gene mutation, with X-linked dominant transmission. This gene codifies filamin A, a protein essential in cytoskeleton formation. …

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Title: Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report
Authors: Marisa Cabrera González
Laura M. Pérez López
Diego Gutiérrez de la Iglesia
Carlota Rovira Zurriaga
Loreto Martorell Sampol
Antonia González Enseñat
Publication date: 01-12-2013
Publisher: Springer US
Published in: HAND / Issue 4/2013
Print ISSN: 1558-9447
Electronic ISSN: 1558-9455
DOI: https://doi.org/10.1007/s11552-013-9515-8

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Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report

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