Differentials
Periventricular nodular heterotopia (PNH)
SIGNS / SYMPTOMS
Skin, ophthalmologic, and general examination is normal.
There are no cutaneous features or other organ involvement.[42][43]
Inheritance pattern is X-linked dominant or sporadic.
INVESTIGATIONS
Affected people present with seizures, and neuroimaging discloses periventricular nodules consistent with heterotopia. These nodules do not have calcification.
There may be additional brain dysgenesis distinct from TSC.
Genetic testing for FLMN and HEX1 genes may yield mutations consistent with PNH.[42][43]
Multiple endocrine neoplasia (MEN-1)
SIGNS / SYMPTOMS
Facial angiofibromas can be seen in about 80% of MEN-1 patients.[32] Other hallmark dermatologic and neurologic clinical features of TSC are not identified.
This is an autosomal-dominant disorder with a propensity for parathyroid and pancreatic islet cell tumors, among other features.[44]
INVESTIGATIONS
Genetic mutations in the MEN-1 gene reside at chromosome 11q13.[32]
Birt-Hogg-Dubé syndrome
SIGNS / SYMPTOMS
This is a rare autosomal dominant disorder with several skin lesions (fibrofolliculoma, trichodiscoma, and acrochordons) found on the face, which resemble the angiofibromas of TSC.[45] However, these develop at a much later age than the angiofibromas of TSC.
INVESTIGATIONS
Mutations in the FLCN (folliculin) gene.
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