- Anonymous1 decade agoFavorite Answer
They are suffering from NEUROFIBROMATOSIS.
Neurofibromatosis is an autosomal dominant genetic disorder. It encompasses a set of distinct genetic disorders that cause tumors to grow along types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. The tumors can grow anywhere on or in the body.
Joseph Merrick, the Elephant Man, was once considered to have been afflicted with either elephantiasis or neurofibromatosis type I. However, it is now generally believed that Merrick suffered from the very rare Proteus syndrome or perhaps a combination of the two conditions
Neurofibromatosis type I (was known as Von Recklinghausen disease after Friedrich Daniel von Recklinghausen). Incidence is 1:3000.
Neurofibromatosis type II (or "MISME Syndrome"). Incidence is 1:40,000.
In addition to the cutaneous neurofibroma, patients with NF-1 develop flat pigmented lesions of the skin called café au lait spots.[
Early diagnosis allows better planning of therapy in young patients with NF II. In many cases the hearing loss is present for 10 years before the correct diagnosis is established. Early in the disease, surgery for an acoustic neurinoma can protect facial nerve function in many patients. In selected cases of patients with very small tumors and good bilateral hearing, surgery may offer the possibility of long-term hearing preservation.
Patients with the Wishard phenotype suffer multiple reccurrences of the tumour after surgical treatment. In the case of facial nerve palsy, the muscles of the eyelids can lose their mobility, leading to conjuctivitis and corneal injury. "Lidloading" (implantation of small magnets, gold weights, or springs in the lid) can help prevent these complications. Other means of preserving corneal health include tarsorrhaphy, where the eyelids are partially sewn together to narrow the opening of the eye, or the use of punctal plugs which block the duct that drains tears from the conjunctival sac. All these techniques conserve moisture from the lacrymal glands, which lubricates the cornea and prevents injury .Most patients with NF II develop cataracts, which often require replacement of the lens. Children of affected parents should have a specialist examination every year to detect developing tumors. Learning of sign-language is one means of preparation for those who will most probably suffer complete hearing loss.
- 1 decade ago