Tuberous sclerosis with rare presentation of macrodactyly

Abstract

An 11-year-old boy was diagnosed with tuberous sclerosis (TS). He also had swelling of his right thumb and radial aspect of his right wrist ( Fig. 1). A radiograph of the right hand (Fig. 2) showed irregular periosteal new bone formation (arrow) involving the first metacarpal bone, the radial aspect of the second proximal phalangeal bone, and the first proximal and distal phalangeal bones. Cortical cysts were also noted (arrowhead). A soft-tissue lump was seen involving the right thumb and radial aspect of the wrist. Both T1-and T2-W

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

“…12), 17,52–54 segmental fibrous dysplasia of bones, 55,56 including macrodactyly (Fig. 13) 57 and unilateral occurrence of multiple arterial aneurysms in childhood 41 . Moreover, unilateral overgrowth of a limb 17,58 and ‘diffuse’ lipomatosis involving a leg 15,46 or the thoracic wall 45 could also be categorized among the extracutaneous manifestations of this particular form of mosaicism.…”

“…(a/b) Macrodactyly in an 11‐year‐old boy with tuberous sclerosis 57 . (a) Clinical appearance; (b) X‐ray shows irregular periosteal new bone formation (arrows) and cortical cysts (arrowhead).…”

Paediatric Orthopaedic Diagnosis

“…Localized gigantism has been reported in association with tuberous sclerosis (Tung and Shih 2009 ) and dysplasia epiphysealis hemimelica (Stockley and Smith 1985 ).…”

Prenatal Sonographic Diagnosis and Evaluation of Isolated Macrodactyly

“…It is associated with skin abnormalities such as hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, and ungual fibromas, brain abnormalities like cortical tubers, subependymal nodules, astrocytomas causing seizures, intellectual disability, and mental retardation, renal anomalies such as angiomyolipomas and cysts, and cardiac rhabdomyomas (Northrup & Au, 1999). Bone changes also occur and macrodactyly has been reported in 11 patients with tuberous sclerosis complex (Aldrich et al, 2010;Ghalli, 2001;Norman-Taylor & Mayou, 1994;Sahoo et al, 2000;Sharma et al, 2011;Shin & Garay,1997;Tung & Shih, 2009;Kousseff, 1989, and Ortonne et al, 1982and Wallis & Beighton, 1989, and Zaremba, 1968, as cited in Norman-Taylor & Mayou, 1994. Mesodermal dysplasia as a component of tuberous sclerosis complex is postulated to be responsible for the macrodactyly (Sahoo et al, 2000) and overgrowth of the tissues and bones of the forearm and wrist has also been reported (Webb et al, 1996, as cited in Sahoo et al, 2000 ).…”