Symptoms, Signs and Complications of Von Recklinghausen’s Disease / Neurofibromatosis Type 1
Symptoms and Signs of Von Recklinghausen’s Disease
An abnormality in human chromosome 17 leads to the development of Von Recklinghausen's disease. Even though it is an autosomal dominant disease, approximately 50% of cases are clinically sporadic. Thus a large number of cases of Neurofibromatosis (NF) are due to a spontaneous mutation, i.e. a change in a person's gene rather than a mutation inherited from a parent.
Clinical findings for the diagnosis of NF include:
- Cafe au lait macules or Café au lait spots: The term means coffee with milk. These are light brown colored tan-spots also called giraffe spots, found in various size and shapes in different locations in the skin. Café au lait spots are also found in a number of other conditions also.
- Neurofibroma : A soft-tumor or growth located along a nerve or on a nervous tissue
- Plexiform Neurofibromas: Tumors affecting nerve-bundles and major nerves.
- Axillary or inguinal freckling: Brownish spot (of the pigment melanin) on the skin and freckles are found especially in the axillary area and inguinal area.
- Sphenoid bone dysplasia: Abnormality in the skull bone sphenoid.
- Optic pathway glioma: A tumor affecting the nerves that carry visual impulses.
- Lisch nodules (i.e., iris hamartomas): Pigmented nodules in the iris of the eyes
- Pheochromocytoma: Tumors of the adrenal gland (10 percent of which are cancerous).
- Other manifestations include learning difficulties, epilepsy, and mental retardation
Complications of Von Recklinghausen’s Disease
Complications of Von Recklinghausen's disease include the following medical conditions:
- Scoliosis
- Gastrointestinal neurofibromas
- Pheochromocytomas
- Vascular dysplasia like renal artery stenosis.
Malignant transformation of the tumor lesions do occur, however is a rare event.
