Neurocutaneous Syndromes (Familial Tumor Syndromes)
Neurofibromatosis
General Information
It is inherited in an autosomal dominant manner.
Neural crest cells have a migration disorder during embryonic development.
Plexiform neuromas are typically localized in the orbit.
In addition to central nervous system tumors, Wilms tumor, increase in hematological malignancies
NF-1 Diagnostic criteria: von Recklinghausen syndrome
Six or more cafe-au-lait spots larger than 5 mm in children and 15 mm in adults.
Freckling in the axillary and inguinal region
Plexiform neuroma, presence of two or more neurofibromas
Positive family history of NF-1
Supporting findings
Optic glioma
Iris hamartoma (Lisch nodules)
Sphenoid dysplasia and lesion in other bones
NF-2 Diagnostic criteria:
Bilateral 8th nerve tumor (schwannoma)
Positive NF-2 family history
Hypertension is common in patients with neurofibromatosis because of the frequent incidence of mental retardation and renal artery stenosis.
Spinal cord ependymomas and multiple meningiomas can be seen in these patients.
Tuberous Sclerosis
• It shows autosomal dominant inheritance. (Tuberin gene mutation)
• It is characterized by the triad of convulsions, mental retardation, facial angiofibroma (adenoma sebaceum).
• It is characterized by abnormal neurons and glia in the brain, abnormal organization to the cerebral cortex, and areas of demyelination.
• The most common clinical onset finding is convulsion, often infantile spasm in infancy.
• After 1 year of age, convulsions appear as Lennox-Gestaut syndrome.
Characteristic skin lesions: hypopigmented skin areas, angiofibroma (adenoma sebaceum, Shagreen plaques, subungal and periungal fibroma).
Mental retardation
Less common findings:
Cardiac rhabdomyoma (most common benign tumor of the heart in children)
Renal angiomyolipoma or renal cysts-pulmonary cysts
Retinal cysts
Sturge-Weber Syndrome
• It is the only neurocutaneous syndrome without hereditary transmission.
• There is abnormal vascularization in the leptomeninges.
• There is calcification in the cerebral cortex.
• There is an angioma in the first branching dermatome of the trigeminal nerve on the face.
• Facial angioma on the face is present from birth.
• In addition to cutaneous angioma, it can also be found in the buccal mucosa, tongue, palate, and pharynx.
• Contralateral hemiparesis, hemianopsia
• Simple and complex partial convulsions
• Glaucoma
• Choroidal hamartoma is not seen.
Von-Hippel-Lindau Syndrome
• It is characterized by hemangioblastomas of the retina and cerebellum.
• It is often characterized by spinal cord angioma and cystic tumors of other organs.
• It is autosomal dominant.
• The most characteristic clinical feature is retinal tumors.
• Hemangioblastoma makes a mass lesion in the cerebellum.
• Some of the patients have polycythemia. Polycythemia resolves with removal of the cerebellar tumor.
• Cystic lesions in internal organs (especially in the pancreas, liver and epididymis)
• The incidence of renal tumors and pheochromocytoma has increased.