plexiform neurofibroma
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Von Recklinghausen disease

Neurofibromatosis is a autosomal dominant genetic disorder. more...

VACTERL association
Van der Woude syndrome
Van Goethem syndrome
Varicella Zoster
Variegate porphyria
Vasovagal syncope
VATER association
Velocardiofacial syndrome
Ventricular septal defect
Viral hemorrhagic fever
Vitamin B12 Deficiency
VLCAD deficiency
Von Gierke disease
Von Hippel-Lindau disease
Von Recklinghausen disease
Von Willebrand disease


There are two major forms:

  • 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.
  • Six other, extremely rare, forms are also recognized:
    • OMIM 162210
    • OMIM 162220
    • OMIM 162240
    • OMIM 162260
    • OMIM 162270
    • OMIM 601321


Neurofibromatosis type 1 - mutation on chromosome 17

  • multiple neurofibromas on the skin and under the skin
  • various other skin phenomena such as freckling of the groin and the arm pit
  • a predisposition to particular tumors (both benign and malignant)
  • the presence of 6 or more CafĂ© au lait spots (pigmented birthmarks) may suggest the presence of this condition
  • skeletal abnormalities such as scoliosis or bowing of the legs might occur
  • lisch nodules (iris nevi)
  • tumor on the optic nerve

Neurofibromatosis type 2 - mutation on chromosome 22

  • bilateral tumors, acoustic neuromas on the vestibular-cochlear Nerve
  • the hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty
  • the tumors may cause:
    • headache
    • balance problems
    • facial weakness/paralysis
    • patients with NF2 may also develop other brain tumors

Genetics and Hereditability

Both NF1 and NF2 are autosomal dominant disorders, meaning that only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with NF1 or NF2 and an unaffected parent will have a 50% chance of inheriting the disorder.

Complicating the question of heritability is the distiction between genotype and phenotype, that is, between the genetics and the actual manifestation of the disorder. In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and specific nature of the symptoms may vary widely among family members with the disorder (Korf and Rubenstein 2005). In the case of NF2, however, manifestations are similar among family members; a strong genotype-phenotype correlation is believed to exist (ibid).

Both NF1 and NF2 can also appear spontaneously through random mutation, with no family history. These spontaneous or sporadic cases account for about one half of neurofibromatosis cases (ibid).


Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.


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Differential diagnosis of von recklinghausen disease - Letters to the Editor - Letter to the Editor
From Townsend Letter for Doctors and Patients, 11/1/03 by John S. Jester

(Neurofibromatosis) Editor:

The July 2003 issue carried a letter from Janet Pettit of North Carolina, requesting assistance. Mrs. Pettit reported that a Dr. Chris Reading of Australia had treated 2 cases and suggests the cause while genetic, had to do with autoimmunity.

I have seen and treated 10-12 cases of related disorders often mistakenly called "Elephant Man" condition, which is a similar, but different condition (Proteus Syndrome). For the sake of brevity, the reader is referred to Mendelian's genetic disorders in humans, many sources under different titles.

Generally, neurofibromatosis is reported to be an autosomal dominant disorder primarily characterized by cafe-au-lait spots, fibromatosis tumors of the skin and neurocognitive deficits.

Geneticists and allopathic physicians consider the condition to be insidious and offer no treatment or only palliative treatment. Sadly, parents are told nothing can be done.

Dr. Jester's findings and treatment: All neurofibromatosis and related cases were found to have mineral imbalances involving copper, resulting in collagen cross linking (tumors) and fatty acid disorders. Some cases were misdiagnosed; some parents convinced by their doctors did not pursue treatment.

Marked improvements in neurocognitive function, and regression of tumors was seen in 6 months to 1 year. One patient, now in his teens, has no signs or symptoms other than cafe-au-lait hyperpigmentation.

I recommend:

1. A Hair Analysis by Trace Elements for metabolic, mineral screening and heavy metals

2. A Fatty Acids (red cell) testing by Great Smokies Diagnostic Lab. If the infant or child cannot be tested, test the mother (mtDNA).

Conclusions: Gregor Mendelian et al. did a wonderful job of identifying and cataloging human genetic disorders. However, there is a large blind spot in genetics and allopathic medicine which I coined, called bionutrition (biochemistry of nutrition) and the fact that gene expression is primarily nutrient-dependent.

The significance being, that a diagnosis based on phenotype, antigen/antibodies, genotype, cytogenic, gene mapping, population genetics, etc. are all faulty without first determining nutrient status.

So, is it genetic or nutritional? Some are inborn errors in metabolism, some are nutrient imbalances, but all can be helped.

337-984-3770 / Fax 337-984-1202

John S. Jester, MD (EM), MD (AM), PhD (Path), DSc (NM)

Provost--International College of Bionutrition and Board of Examiners

Dean--Yamuni Institute of Healing Arts

Jester Naturopathic Associates

2079 Kirk Road

Maurice, Louisiana 70555 USA

COPYRIGHT 2003 The Townsend Letter Group
COPYRIGHT 2004 Gale Group

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