Diagnosis and Treatment of Digitocutaneous Dysplasia, a Rare Infantile Digital Fibromatosis: A Case Report

Abstract

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. Published cases with digitocutaneous dysplasia are rare, with only 19 patients from nine different families [2, 3, 6, 7, 19, 21, 30], with exceptional isolated cases [15, 20]. In all of these cases, there were similar clinical findings that defined digitocutaneous dysplasia, such as multiple digital fibromas, dental anomalies, osseous alterations, and dysmorphic changes [13]. Fibromas associated with infantile digital fibromatosis have a high risk of recurrence when they are removed and they tend to autoresolve with time [20]. For fibromas associated with dysplasia digitocutaneous, the response to excision or other treatments is still not well defined. Consultation of a newborn female in our center, who presented with severe digital fibromas, encouraged us to carefully review the literature and examine the therapeutic possibilities.