Condition you are describing is most probably neurofibromatosis. Neurofibromatosis (NF) is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the skin, bottom layer of skin (subcutaneous tissue), and nerves from the brain (cranial nerves) and spinal cord (spinal root nerves). It is divided into NF-1. NF-2 and Schwannomatosis. NF-1 a genetically-inherited disease, they can result in a range of symptoms from physical disfiguration and pain to cognitive disability. NF-1 is caused due to mutation of neurofibromin chromosome 17q11. 2.NF-1 also appears in families with no previous history of the condition, as a result of a new gene change (mutation) in the sperm or egg. NF-1 is caused by abnormalities in a gene for a protein called neurofibromin. NF-1 is more common and is characterized by multiple (more than 5) tan patches on the skin (café-au-lait spots), freckles in the groin or armpit, nodules within the iris of the eyes, skin neurofibromas (small, rubbery skin lesions), bone defects, and visual disorders. Children with NF-1 are susceptible to neurologic complications including masses in the brain and spinal cord. NF-2 is caused due to mutation of NF2 (Merlin) in chromosome 22q12. B tumors, acoustic neuromas on the vestibulocochlear nerve (the eighth cranial nerve) leading to hearing loss. The hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty. These tumours may cause: headache, balance problems, and vertigo, facial weakness/paralysis, patients with NF2 may also develop other brain tumours, as well as spinal tumours, deafness and tinnitus.
The gene involved for Schwannomatosis has yet to be identified. Symptoms include: Multiple Schwannomas, the Schwannomas develop on cranial, spinal and peripheral nerves. Chronic pain, and sometimes numbness, tingling and weakness. About 1/3 of patients have segmental Schwannomatosis, which means that the Schwannomas are limited to a single part of the body, such as an arm, a leg or the spine. Unlike the other forms of NF, the Schwannomas do not develop on vestibular nerves, and as a result, no loss of hearing is associated with Schwannomatosis. Patients with Schwannomatosis do not have learning disabilities related to the disease.
There is no specific treatment for neurofibromatosis. Tumours that cause pain or loss of function may be removed. Tumours that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumours are under investigation. Some children with learning disorders may need special schooling. You can meet your physician if you notice coffee-with-milk coloured spots on your child's skin or if you have a family history of neurofibromatosis and are planning to have children, or would like to have your child examined.
Genetic counselling is recommended for anyone with a family history of neurofibromatosis. Annual eye exams are strongly recommended. It is advisable to discuss the case further with your neurologist to know more on prognosis in your case.