Skeletal deformities in a case of digitocutaneous dysplasia

Abstract

We present a case of a 2 year old female with digital fibrous lesions, dysmorphic facial features, stridor, sensorineural hearing loss, and scoliosis. The patient surgical history included digital amputations at the interphalangeal joint line bilaterally on the middle, ring, and little finger. Physical exam demonstrated knee and elbow flexion contractures and a left ankle varus contracture. Radiographic evaluation revealed several aggressive fibromas in the proximal femori and tibia (Figure 1) and a mild dextroconvex lumbar scoliosis (Figure 2) [1,2]. Biopsy of a digital lesions revealed a dermal spindle cell proliferation without atypia or necrosis, and perinuclear inclusions on H&E and trichrome stains. Comparative genomic hybridization and single nucleotide polymorphism genotyping revealed two adjacent duplications of the DMD gene (OMIM 400477): a duplication of 83 kb from the cytogenic band Xp21.2 to Xp 21.1 and a duplication of 555 kb within the cytogenetic band of Xp21.2.