Focal gigantism in tuberous sclerosis

Abstract

A 38 year lady had recurrent generalized and myoclonic seizures since 6 years of age. On examination she had facial adenoma sebaceum and periungal fibromas, cutaneous angiofibromas on the back. Contrast enhanced magnetic Resonance Imaging of brain was suggestive of multiple cortical tubers with sub ependymal nodules consistent with the diagnosis of Tuberous sclerosis. Focal hypertrophy of the skin of the dorsal aspect of the left hand with focal gigantism was noted.

Keywords

Tuberous sclerosis - Focal gigntism

A 38 year lady had recurrent generalized and myoclonic seizures since 6 years of age. On examination she had facial adenoma sebaceum ([Fig. 1a]) and periungal fibromas, cutaneous angiofibromas on the back. Contrast enhanced magnetic Resonance Imaging of brain was suggestive of multiple cortical tubers with sub ependymal nodules consistent with the diagnosis of Tuberous sclerosis. Focal hypertrophy of the skin of the dorsal aspect of the left hand with focal gigantism was noted ([Fig. 1b]).

Fig. 1. Showing patient of tuberous sclerosis with adenoma sebaceum ([Fig. 1a]) and focal gigantism and localized digital enlargement ([Fig. 1b]).

Tuberous sclerosis complex in an autosomal dominant neuro-cutaneous disorder frequently recognized by presence of facial angiofibromas, periungual fibromas, shagreen patches; and presence of cortical tubers and sub ependymal nodules in MRI Brain.[1] Focal gigantism in the form of digital enlargement is an uncommon musculoskeletal association in tuberous sclerosis. The mechanism for its occurrence is unknown and it could be implicated to be due to localized tissue hyperplasia.[2]

Conflicts of interest

None.

Financial disclosures/funding source

None.

Author contribution

Sanat R Bhatkar Drafting the article or revising it intellectual content, analysis or interpretation of the data, manuscript preparation.

Aastha Takkar Drafting the article and revising it’s intellectual content. Manuscript preparation.

Die Autoren geben an, dass kein Interessenkonflikt besteht.

• References

• 1 Northrup H, Krueger DA. on behalf of the International Tuberous Sclerosis Complex Consensus Group Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49 (04) 2013; 243-254
• 2 Soeiro E Sá M, Moldovan O, Sousa AB. Macrodactyly in tuberous sclerosis complex: case report and review of the literature. Am J Med Genet A 170 July (7) 2016; 1903-1907

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