Contact Us
Sign In / Sign Up for FREE
Go to advanced search...

Plexiform neurofibromatosis - Essay Example

Comments (0) Cite this document
Neurocutaneous disorders are diseases that involve nervous system, skin, and retina and other ectodermal tissues. They are congenital. Migration of neural cells to
brain and melanoblasts to the skin from the neural crest occurs between 3 to 6 months of intrauterine life…
Download full paperFile format: .doc, available for editing
GRAB THE BEST PAPER98.7% of users find it useful
Plexiform neurofibromatosis
Read TextPreview

Extract of sample "Plexiform neurofibromatosis"

Download file to see previous pages Neurocutaneous disorders are diseases that involve nervous system, skin, and retina and other ectodermal tissues. They are congenital. Migration of neural cells to
brain and melanoblasts to the skin from the neural crest occurs between 3 to 6 months of intrauterine life. A disturbance of this migration results in neurocutaneous syndromes involving ectodermal and neuroectodermal elements (Panda 526). Neurofibromatosis is an autosomal dominant neurogenetic disorder. It can present with spectrum of symptomatology, it affects bone, nervous system, soft tissue and the skin. There are two varieties of neurofibromatosis, NF-1, popularly known as peripheral neurofibromatosis and NF-2, also known as central neurofibromatosis. A third variant is known as segmental neurofibromatosis. However, NF-1 has often central features. Here, the discussion will be limited to NF-1 which can present as plexiform neurofibromatosis.Increased nerve growth stimulating activity is incriminated for the development of neurofibromatosis. The disease has a genetic basis. NF-1 is linked to a large gene on band 17q 11.2. It encodes a protein termed neurofibromin.The protein has been found essential for the negative regulation of Ras, suggesting that neurofibromin acts as a tumor suppressor. Truncations in neurofibromin led to the mutations in most of the
NF-1 cases. NF-1 is a disorder with variable phenotypic expression.
Some patients

may have only cutaneous expression, while others may have life threatening and

disfiguring complications. These variations are demonstrated even with in the

families. The disease also tends to change and develop with time. Many different

mutations with in neurofibromatosis gene have been described. Spontaneous


mutations are thought to contribute to approximately 30-50% of neurofibromatosis

cases. The world wide prevalence of this disease is 1 in 2500 to 3300 live births. All

race groups are equally affected and there is no sexual preponderance (Kam and


Most patients with neurofibromatosis present with caf au lait macules during first

three years of life. Neurofibromas develop during late adolescence. Few may present

with complications like pain caused by neurofibromas, pathological fractures or

hypertensive head ache caused by pheochromocytoma.

Physical examination may reveal the involvement of different organs and systems.

Caf au lait spots are unusual pigmentary patterns, irregularly shaped, evenly

pigmented, brown macules. Most individuals with neurofibromatosis have 6 or more

spots that are 1.5cm or greater in diameter. In young children, 5 or more caf au lait

macules greater than 0.5 cm in diameter are suggestive of neurofibromatosis. 1 or 2

caf au lait macules are encountered even in healthy individuals. Lisch nodules are

hamartomas of the iris that appears dome shaped. Slit lamp examination will reveal

this and help in confirming the diagnosis of neurofibromatosis. Axillary freckling (as

well as inguinal freckling) known as Crowe sign is a useful diagnostic feature in

neurofibromatosis. They develop during puberty. Areas of freckling and

hypertrichosis occasionally overlay plexiform neurofibromas. Bone involvement can

include pseudoarthrosis of tibia, bowing of long bones and orbital defects.

Occasionally pulsating exophthalmos is encountered. Neurofibromas are the most ...Download file to see next pagesRead More
Cite this document
  • APA
  • MLA
(“Plexiform neurofibromatosis Essay Example | Topics and Well Written Essays - 1000 words”, n.d.)
Plexiform neurofibromatosis Essay Example | Topics and Well Written Essays - 1000 words. Retrieved from
(Plexiform Neurofibromatosis Essay Example | Topics and Well Written Essays - 1000 Words)
Plexiform Neurofibromatosis Essay Example | Topics and Well Written Essays - 1000 Words.
“Plexiform Neurofibromatosis Essay Example | Topics and Well Written Essays - 1000 Words”, n.d.
  • Cited: 0 times
Comments (0)
Click to create a comment or rate a document

CHECK THESE SAMPLES OF Plexiform neurofibromatosis

Neurofibtomatosis NF1 and NF2

...of the diseases. (Gutman, 1997). Neurofibromatosis 1 is characterized by the presence of cafe-au-lait spots, brownish colored patches on the skin. They may also display freckling in the axilla or groin. They develop tumors of the peripheral nerves called neurofibromas, which can arise in the nerve endings in the skin (cutaneous neurofibromas), peripheral nerves (nodular neurofibromas) or optic nerves (optic gliomas). Extensive tumor formation in the peripheral nerves is the most easily identifiable feature of NF1, leading to grotesque disfiguration of the face and limbs, a condition known as plexiform neurofibromatosis. The so-called Elephant Man, Mr. John Merrick is believed to be a...
8 Pages(2000 words)Essay


...people at increased risk of leukemia, including those which also cause Down syndrome. Other disorders which are associated with increased risk of leukemia include Li-Fraumeni syndrome, Klinefelter syndrome, Fanconi’s anemia, neurofibromatosis, and Wiskott-Aldrich syndrome” (Vogt, 2010). Workers who are exposed to certain chemicals during their work hours develop leukemia. One such chemical is Benzene. Also another important risk factor is the medicines which are used for treating other cancer diseases. Smoking cigarettes too is a root cause for developing acute myelogenous leukemia (Risk Factors, n.d.). Older people are at more risk factor of developing leukemia. Adults are mainly at high risk of developing this disease...
5 Pages(1250 words)Term Paper

Investigation of Human Disease

...Syndrome Nemaline Myopathy Nephrogenic Diabetes Insipidus Neuroferritinopathy Neurofibromatosis 1 Neurofibromatosis 2 Neuronal Ceroid-Lipofuscinoses Nevoid Basal Cell Carcinoma Syndrome Niemann-Pick Disease Type C Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNA3 Nonsyndromic Hearing Loss and Deafness, DFNB1 Nonsyndromic Hearing Loss and Deafness, Mitochondrial Noonan Syndrome OTOF-Related Deafness Ocular Albinism, X-Linked Oculocutaneous Albinism Type 1 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type 4 Oculopharyngeal Muscular Dystrophy Optic Atrophy Type 1 Oral-Facial-Digital Syndrome Type I Osteogenesis Imperfecta Otopalatodigital Spectrum Disorders PINK1 Type of...
6 Pages(1500 words)Essay

Human genetic disorders can arise as a consequence of mutations in either nuclear or mitochondrial genomes. Using specific examp of the two parents with the abnormality. These disorders are mainly caused by mutation in one of the genes only with the 50 % possibility of getting the mutated gene. The disease usually develops later in the life or it would even not appear at all as the penetrance of these disorders is considered to be very low and the inheritance is very low too. E.g. Huntingtons disease, Neurofibromatosis 1, Marfan Syndrome Autosomal recessive These disorders usually occur in offsprings who have both the parents affected with the disorder or the disease. As compared to dominant disorders, they require mutation in both the copies of the genes. There is only a chance of 25% transfer of the mutated gene and the development of the...
8 Pages(2000 words)Essay

Pheochromocytoma 10 to 25%. Many of these are detected only after death. (5) There is a 15-20% incidence of cholelithiasis (6) Cushing's syndrome is a rare association, usually a consequence of ectopic secretion of ACTH by the pheochromocytoma, or less commonly, by a coexistent medullary carcinoma of the thyroid. It is necessary to remove a pheochromocytoma before a thyroid or parathyroid surgery. Although, current medical knowledge does not associate pheochromocytoma with neurofibromatosis, the following manifestations must be noted in cases of incomplete forms of neurofibromatosis; (1) caf au lait spots (2) vertebral abnormalities, or kyphoscoliosis If the foregoing enumerations are present, especially in...
17 Pages(4250 words)Essay

The Elephant Man Demands of Society in the play

...The person who inspired the play and the film The Elephant Man was a true-to-life curiosity, if not considered as a monstrosity by others, during thelate Victorian age. Joseph Merrick eventually was exhibited as a sideshow until he was rescued by Dr. Frederick Treves. Treves described his patient as "deformed in body, face, head and limbs. His skin, thick and pendulous hung in folds and resembled the hide of an elephant-hence his show name" (Howell & Ford, 1980). Merrick suffered from a rare disease called Neurofibromatosis or Proteus Syndrome. However, the name Elephant Man was mistakenly given as his sobriquet because many thought that he was afflicted with elephantiasis. Born in England in 1862, it became apparent... person who inspired...
7 Pages(1750 words)Essay

Brain Aneurysms

...are fibromuscular dysplasia, coarctation of aorta and pheochromocytoma. It has been thought that the elevated blood pressure in these conditions is the cause for the development of aneurysms. Other inherited risk factors which have been incriminated in the development of aneurysms include alpha-glucosidase deficiency, Noonans syndrome, tuberous sclerosis, Klineflters syndrome, alpha-1 antitrypsin deficiency, neurofibromatosis type-1, hereditary hemorrhagic telangiectasia, pseudoxanthoma elasticum and type-IV Ehlers-Danlos syndrome (Vega et al, 2002). Other non-heritable risk factors include female gender, advanced age (beyond 50 years of age), cocaine abuse, head injury, current cigarette smoking, infection of the vessel...
9 Pages(2250 words)Essay


...causes. It has been analyzed that alterations in the normal chromosomal development which may be due translocations as well as rearrangements in the chromosomal structure may lead to leukemia. An interesting aspect of leukemia is that it is seen to be present at a higher rate in the people who suffer from other genetic pathological conditions. A higher incidence of acute leukemia is seen in people who suffer from Bloom Syndrome, Fanconi anemia and ataxia telangiectasia. In a similar manner, increased susceptibility of childhood leukemia is seen in children suffering from Down’s syndrome and neurofibromatosis type I. A virus which is referred to as human T-cell leukemia virus-1 (HLTV-1) has been considered to be a...
7 Pages(1750 words)Research Paper

Eye Tracking:The Next Phenomenon in Subarachnoid Hemorrhaging Management

...its causative agents, origin and developments with respect to whether it is chronic, recurrent or acute. SAH is attached to familial strong history of inheritable connective tissue disorders and abuse of sympathomimetic substances. Clinical syndromes This refers to a constellation of laboratory and physical outcomes attached as the primary subarachnoid Hemorrhaging developmental process such as headache trauma. Population group Persons with inheritable intracranial aneurysms attached-connective tissue disorders like autosomal dominant (neurofibromatosis type 1, Marfan syndrome, Ehlers-Danlos disease type IV, polycystic) and strong background of intracranial aneurysms are SAH attached. Predisposition factors Familial...
2 Pages(500 words)Research Paper

Medical Genetics

...individual after the X-chromosomes from one parent units to form a zygote with another parent X-chromosomes (Roy, 2012). However, during X-chromosomes inactivation the A1 sector of genes o the right side fails to express themselves in an individual throughout life allowing the A2 division of genes to express themselves eliciting a particular trait. Experiment 4 The LOD score considered evidence for linkage to the Neurofibromatosis 1 gene The LOD score is equal to logarithm probability of the birth sequence at a given value divided by the likelihood of the birth sequence without linkage in reference to Scott (2012). Therefore, since the combination frequency is equal to 1, the distance (d) would be d=r/N, which is...
5 Pages(1250 words)Essay
sponsored ads
We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.

Let us find you another Essay on topic Plexiform neurofibromatosis for FREE!

Contact Us