Q15 - Phakomatoses

Question 1

Definition

Answer 1

= neurocutaneous disorders involving structures derived from ectoderm (cns, skin and eyes).
- Syndromes include neurofibromatose 1, NF2, tuberous sclerosis, Sturge-Weber syndrome, von hipple lindau disease.

Question 2

Neurofibromatosis 1

Answer 2

Congenital developmental defect of neuroectoderm -> benign neuronal tumors and pigment spots (cafe au lait).
- ocular issues: Lisch nodules (pigmented nodules on iris), optic nerve gliomas, multifocal choroidal nevi, retinal tumors and nodular/plexiform neurofibromas of eyelids.

Question 3

Neurofibromatosis 2

Answer 3

• gives rise to benign neuronal tumors of cns (schwannomas, meningiomas, gliomas). Bilateral vestibular schwannomas are very characteristic.
• ocular issues: presenile cataract, retinal hamartomas.

Question 4

Tuberous sclerosis

Answer 4

• causes benign tumors to grow in brain, eyes and other vital organs. -> seizures, mental retardation, renal cysts, astrocytic cns tumors and skin lesions.
• ocular: retinal astrocytomas

Question 5

Sturge-Weber syndrome

Answer 5

Occur in errors of neuroectodermal development. Is sporadic, and not hereditary like the other phakomatoses.
-> port wine stains on face, congenital glaucoma, seizures, telangiectasia of conjunctiva.