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The phakomatoses.Clin
Dermatol. 2005 Jan-Feb;23(1):78-84.
The "phakomatosis"
concept was formulated early in the twentieth century by the
ophthalmologist van der Hoeve. He included 3 disorders in the
group-neurofibromatosis, tuberous sclerosis complex, and von
Hippel-Lindau syndrome--on the basis of the occurrence of patchy
ophthalmologic manifestations in each disorder. Since the name was
coined, much has been learned about the pathogenesis of these 3
disorders. It is clear that 2 of them--neurofibromatosis and tuberous
sclerosis--are collective terms for multiple disorders. Each of the
conditions is caused by distinct genetic defects, with little
commonality in terms of protein function. Yet, in some respects, the
disorders share a pathogenetic mechanism, that of the tumor suppressor
gene. This review will briefly describe these disorders in light of
what has been learned about underlying molecular pathogenesis. In each
case, genetic testing is beginning to be available; principles of the
use of genetic tests will be described.
Double
phakomatosis; neurofibromatosis type-1 and tuberous sclerosis.Acta
Neurochir (Wien). 2007 May;149(5):505-9.
Epub 2007 Apr 5.
Neurocutaneous
syndromes represent some of the most common inherited disorders of the
nervous system. Neurofibromatosis type-1 (NF-1) and tuberous sclerosis
are well described. Yet, the presentation of both syndromes in the
same patient is quite rare. We performed a thorough review of the
literature of such double phakomatosis including pattern of
inheritance. Eleven cases were reported in the literature. In addition
we report a young patient who presented with clinical picture
suggestive of both NF-1 and tuberous sclerosis, and present a
radiographic and histopathological description of the case.
Rapid development of optic glioma in a
patient with hybrid phakomatosis: neurofibromatosis type 1 and
tuberous sclerosis.AJNR
Am J Neuroradiol. 2004 Jan;25(1):36-8
Increased
propensity for tumor formation in neurofibromatosis and tuberous
sclerosis exists because of defective tumor-suppressor genes. Although
different tumor-suppressor genes may be involved in neurofibromatosis
and tuberous sclerosis, at the cellular level these genes share rather
common enzymatic pathways. We believe these genetic malfunctions have
resulted in a cumulative or additive effect for rapid growth of optic
glioma in the following unusual case that has hybrid phakomatosis.
Clinical and
tomographic aspects of 29 cases of phakomatosis in Guinea.Med
Trop (Mars). 2006 Jun;66(3):247-51
The purpose of
this report is to describe 29 cases of phakomatosis including 18 cases
of tuberous sclerosis (Bourneville) and 11 cases of neurofibromatosis
(von Recklinghausen) observed over a 10-year period at the Neurology
Department of the University Hospital Centre in Conakry, Guinea.
Findings during this period were consistent with those classically
reported in the literature: high frequency of advanced skin lesions
coalescing into massive tumours, occurrence of seizures of all types
and development of a wide variety of complications as a result of late
diagnosis. Our experience underscores the need for follow-up and
surveillance of these patients by somatic studies based on
neurological, ophthalmologic and tomographic data depending on
clinical findings.
Tuberous
sclerosis associated with neurofibromatosis: report of a case.J
Formos Med Assoc. 1994 Sep;93(9):797-801.
Neurofibromatosis and tuberous sclerosis are phakomatous syndrome
diseases. They are both inherited as autosomal dominant diseases.
Neurofibromatosis type 1 and tuberous sclerosis very seldom occur
together. We report a 16-year-old male who had characteristics of
these two diseases. This patient had all the criteria for a definitive
diagnosis of tuberous sclerosis such as: classical shagreen patches,
periungual fibroma, retinal hamartomata, facial angiofibroma, renal
angiomyolipomata, and subependymal glial nodules on computed
tomography. He also had the three presumptive diagnostic criteria:
cardiac rhabdomyoma, seizure history and first degree relatives with
tuberous sclerosis. The patient had more than six cafe-au-lait spots,
the greatest diameter of which exceeded 15 mm in diameter. Multiple
neurofibromas, one plexiform neurofibroma, axillary freckling and
optic gliomas were also found on his body. These criteria are
sufficient for a diagnosis of neurofibromatosis type 1 to be made. The
skin biopsies were also consistent with the disease. Apart from the
patient's mother and younger sister, who had tuberous sclerosis, there
was no other person with neurofibromatosis type 1 in his immediate
family. We believe that tuberous sclerosis was inherited from his
mother and that neurofibromatosis type 1 may have resulted from
mutation.
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