neuro

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

Neurofibromatosis

A.D disorder.
Progressive.
Every system can affected.

Criteria for diagnosis:

Definitive diagnosis required at least 2 criterias out of seven, these are:
1.Six or more café-au-lait spots (in children >0.5cm , in adult>1.5cm).
Café au-lait spots are the hallmark of neurofibromatosis and are present in almost 100% of patients. They are present at birth but increase in size, number, and pigmentation, especially during the 1st few years of life. The spots are scattered over the body surface, with predilection for the trunk and extremities, and sparing of the face.





2.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.



Plexiform neurofibromas are usually evident at birth and result from diffuse thickening of nerve trunks that are frequently located in the orbital or temporal region of the face. The skin overlying a plexiform neurofibroma may be hyperpigmented to a greater degree than a café au-lait spot. Plexiform neurofibromas may produce overgrowth of an extremity and a deformity of the corresponding bone.

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