Primary localized gigantism and tuberous sclerosis

A Rare Association of Localized Gigantism with Tuberous Sclerosis

“…Involvement of bone in TS is not uncommon and usually occurs as a proliferation of cells, resulting in either cystic or sclerotic changes. However, gross hypertrophy of the bones coupled with soft tissue proliferation causing localized gigantism is extremely rare; only a few case reports of this interesting association have been documented in literature (1)(2)(3). We report a male patient with TS and localized gigantism which we believe to be the first documented case of this nature from the Indian subcontinent.…”

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder

“…Clinical features: The patient presented by Hoffman et al was 9 years old at diagnosis [ 88 ], while details for the second case are not available [ 87 ]. Other cases of TSC reported in the literature are associated with localized gigantism, without PitNETs, but this is thought to be because of the shared neural crest origin [ 155 , 156 , 157 , 158 , 159 ].…”

Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth

“…TSC with lymphedema (2) and vascular dysplasia (manifesting as large-vessel stenosis or aneurysm) has been reported (13). There are four reports of solitary limb overgrowth (14,15), three with vascular anomalies in conjunction with TSC ( Table 1, patients 1-4) (16)(17)(18). Published cases of minor overgrowth or vascular malformation with TSC are not listed in our table.…”