DR. Athal Humo 2016
NEUROCUTANEOUS SYNDROME (PHAKOMATOSIS)The skin, teeth, hair, nail & the brain are derived embryologically from ectoderm; severe abn in these structres mean abn brain development.
What do we mean by phakomas ?? Greek phakos = lentil or lens shaped
NCS INCLUDE :
Neurofibromatosis (NF) Tuberous sclerosis (TS) Sturge weber synd (SWS)A.D disorder. Progressive. Every system can affected.
CRITERIA FOR DIAGNOSIS:2. Axillary or inguinal freckling.
Axillary or inguinal freckling consisting of multiple hyperpigmented areas 2–3 mm in diameter.3. Two or > neurofibromas or one plexiform neurofibroma
These lesions appear characteristically during adolescence or pregnancy, suggesting a hormonal influence. They are usually small, rubbery slight purplish discoloration of the skin.
4. Two or >iris lisch nodules.
Lisch nodules are hamartomas located within the iris and are best identified by a slit-lamp examination. The prevalence of Lisch nodules increases with age.5. Optic gliomas. 6. Destructive bone changes. 7. 1st degree relative with NF.
COMPLICATIONS :Neurological: learning disabilities, attention deficit disorders, behavioral and psychosocial problems, and abnormalities of speech. Seizures, hydrocephalus, macrocephaly & vascular abnormalities may lead to TIA & hemiparesis. Hypertension: may result from renal vascular stenosis or a pheochromocytoma. Premalignant Dx : Hx Exam Neuroimaging study Treatment : Genetic counseling Early detection of treatable condition or complication