NF I/II and cafe-au-lait spots

1. Neurofibromatosis
Saja Alkhdour
An-Najah National University/ Faculty of Medicine

2. Neurofibromatosis
* One of the neurocutaneous
syndromes
* AD
* Progressive
* Defect in differentiation of the
primitive ectoderm
* NF-I, NF-II

3. Neurofibromatosis-I
* The most prevalent type
* multisystem genetic disorder
* Cutaneous findings, most notably café-au-lait
spots and axillary freckling
* Skeletal dysplasias
* Growth of both benign and malignant nervous
system tumors, most notably benign
neurofibromas

5. Diagnosis
2/7:
1. Six or more café au-lait macules over 5 mm in diameter in
prepubertal individuals and over 15 mm diameter in postpubertal.
2.Axillary or inguinal freckling.
3. Two or more iris Lisch nodules: hamartomas.
4. Two or more neurofibromas or 1 plexiform neurofibroma/
adolescence or pregnancy.
5. A distinctive osseous lesion : sphenoid dysplasia , cortical thinning of
long bones .
6. Optic gliomas: benign tumors consist of glial cells and a mucinous
material.
7.A first-degree relative with NF-1 .

6. Lisch nodules

7. Other manifestations
* learning disability
* Seizures
* Precocious puberty
* Malignant neoplasms (3%)
Malignant peripheral nerve sheath tumor (MPNST).
Pheochromocytoma,
Rhabdomyosarcoma, leukemia, and Wilms tumor
* Hypertension (pheochromocytoma, RAS)

8. Neurofibromatosis-II
* 1/25,000
* Diagnosed when 1 /4 features is present:
(1) Bilateral vestibular schwannomas
(2) Unilateral vestibular schwannoma and any 2 of the following:
meningioma, schwannoma, glioma, neurofibroma, or posterior subcapsular
lenticular opacities
(3) A parent, sibling, or child with NF-2 and either unilateral vestibular
schwannoma or any 2 of the following: meningioma, schwannoma, glioma,
neurofibroma, or posterior subcapsular lenticular opacities
(4) Multiple meningiomas (2 or more) and unilateral vestibular schwannoma
or any 2 of the following: schwannoma, glioma, neurofibroma, or cataract

9. Neurofibromatosis-II
* Symptoms of acoustic neuromas are; hearing
loss, facial weakness, headache, or unsteadiness
may appear during childhood.
* Café au-lait spots and skin neurofibromas are
much less common in NF-2

10. Management
* There is no cure for neurofibromatosis.
* Patients should be routinely monitored for complications.
*Annual examinations ( G&D, ophthalmo, neuro, hearing, BP,
scoliosis)
* Chemotherapy, radiation therapy, or both may be used to
treat cancerous tumors
* Surgery can be used to remove tumors that cause pain or a
loss of function.
* Genetic counseling

11. Café au lait spots
* Café au lait spots, or macules (CALMs), are
hyperpigmented lesions that may vary in color from light
brown to dark brown;
this is reflected by the name of the condition, which means
"coffee with milk.“
* Caused by an increase in melanin content
* Other conditions in which they may be observed include
McCune-Albright syndrome, tuberous sclerosis, and Fanconi
anemia, Silver-Russell syndrome.
* Solitary café au lait spots, 0.3%- 18% IN newborns,
* benign and produce no mortality or morbidity

12. References:
- Nelson textbook of pediatrics
- Medscape