PHAKOMATOSIS

1. PHAKOMATOSIS
RAIN HEALTH CARE

2. WHAT IS??
• PHAKOMATOSIS IS A GROUP OF CONDITION IN WHICH THERE ARE
CONGENITAL.
• PHAKOMATOSIS USUALLY BENIGN TUMORS OF THE BLOOD VESSELS
OR NEURAL TISSUES.
• THEY ARE OFTEN OCULAR, CUTANEOUS AND INTRACRANIAL IN
LOCATION.

3. CONDITIONS
• NEUROFIBROMATOSIS –VON RECKLINGHAUSEN
• TUBEROUS SCLEROSIS --- BOURNEVILE
• ANGIOMATOSIS RETINAE WITH CEREBELLAR HEMANGIOBLASTOMA. –
VON HIPPLE- LINDAU
• ENCEPHALOTRIGEMINAL ANGIOMATOSIS. – STURGE-WEBER
• ATAXIA TELANGIECTASIA --- LOUIS-BAR
• ENCEPHALO-RETINO-FACIAL ANGIOMATOSIS --- WYBURN MASON

4. NEUROFIBROMATOSIS
• Neurofibromatosis is a genetic disorder of the
nervous system. It mainly affects how nerve cells
form and grow. It causes tumors to grow on nerves.
You can get neurofibromatosis from your parents,
or it can happen because of a mutation in your
genes.

5. TUBEROUS SCLEROSIS
• Tuberous sclerosis is a rare disease that causes tumors, or growths,
in the brain and other organs. These growths can occur in the skin,
kidneys, eyes, heart, or lungs. They are usually benign (non-
cancerous). The first signs of tuberous sclerosis may occur at birth.

6. ANGIOMATOSIS RETINAE WITH CEREBELLAR
HEMANGIOBLASTOMA
• A hemangioblastoma is a benign, highly vascular tumor that can occur
in the brain, spinal cord, and retina (the light-sensitive tissue that
lines the back of the eye). This tumor accounts for about 2% of brain
tumors.

7. ENCEPHALOTRIGEMINAL ANGIOMATOSIS
• Sturge-Weber syndrome (SWS), also called encephalotrigeminal
angiomatosis, is a neurocutaneous disorder with angiomas that
involve the leptomeninges (leptomeningeal angiomas [LAs]) and the
skin of the face, typically in the ophthalmic (V1) and maxillary (V2)
distributions of the trigeminal nerve.

8. ATAXIA TELANGIECTASIA
• Ataxia telangiectasia (A-T) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia,
immunodeficiency, cancer susceptibility and radiation sensitivity. A-T
is often referred to as a genome instability or DNA damage response
syndrome.

9. ENCEPHALO-RETINO-FACIAL ANGIOMATOSIS
• The inheritance pattern of cerebrofacial angiomatosis, or Sturge-
Weber syndrome, is sporadic. The characteristic skin lesion in Sturge-
Weber syndrome is nevus flammeus (port-wine stain),
an angioma involving skin and subcutaneous tissues that usually
follow the distribution of CN V (the trigeminal nerve).

10. THANK YOU