generate barcode c# .net Figure 38-9 Molluscum brosum nonneural skin tumors of von Recklinghausen disease in Microsoft Office

Draw QR Code 2d barcode in Microsoft Office Figure 38-9 Molluscum brosum nonneural skin tumors of von Recklinghausen disease

Figure 38-9 Molluscum brosum nonneural skin tumors of von Recklinghausen disease
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accompanied by hypertrophy of a segment of the body When the hyperpigmentation overlies a plexiform neuro broma and extends to the midline, one should suspect an intraspinal tumor at that level Another unique nding is the Lisch nodule This is a small whitish spot (actually a hamartoma) in the iris that was present in 94 percent of Riccardi s type 1 cases but was not found in patients with type 2 NF or in normal individuals (see Fig 38-10 and below) Headache, hydrocephalus, and tumors involving the optic pathways, meningiomas, gliomas, and malignant peripheral nerve tumors are common, even among adults, according to the survey of 158 patients by Creange and colleagues; also, pain was a com mon symptom in adults and often related to a malignant peripheral nerve sheath tumor Other abnormalities associated less consistently with type 1 (peripheral) NF include bone cysts, pathologic fractures (pseudoarthrosis), cranial bone defects with pulsating exophthalmos (sphenoid bone dysgenesis), bone hypertrophy, precocious puberty, pheochromocytoma, scoliosis, syringomyelia, nodules of abnormal glial cells in brain and spinal cord, and macrocephaly, rarely with obstructive hydrocephalus due to overgrowth of glial tissue around the sylvian aqueduct and fourth ventricle Some degree of intellectual impairment is common; it was found in 40 percent of Riccardi s series of 133 patients But in our experience the gure is much less and the impairment is usually not profound Learning dif culty, developmental disorder, and hyperactivity have been more frequent abnormalities, occurring in almost 40 percent of patients Rosman and Pearce have ascribed mental retardation in NF to congenital malformation of the cerebral cortex (cortical dysgenesis) The incidence of seizures is about 20 times higher than that in the general population Exceptionally, NF has been associated with peroneal muscular atrophy, congenital deafness, and partial albinism (Bradley et al) In childhood, progressive blindness is a particularly troublesome complication One or both optic nerves are involved in a tumor mass composed mainly of astrocytes The diagnosis comes to mind at once in a child with any of the cutaneous manifestations of NF Uncertainty as to its nature arises from the fact that the neuropathologist may be unable to decide between a benign hamartoma and a grade 1 astrocytoma Progressive enlargement in a succession of MRI scans may be needed to af rm its blastomatous nature Neuro bromatosis Type 2 (Acoustic or Central NF) This condition is considerably less frequent than type 1 NF Here there is
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an absence or paucity of cutaneous lesions Progressive deafness and the demonstration by enhanced CT or MRI of bilateral acoustic neuromas affords accurate diagnosis (see Fig 31-16) Also, an acoustic neuroma developing before age 30 is suspect as being caused by NF 2 Other cranial or spinal neuro bromas, meningioma (sometimes multiple), and glioma may be added to the syndrome of deafness or may occur prior to its emergence Juvenile cataracts of the subcortical or capsular variety are seen in some affected patients Gene analysis for this entity has become available Pathology of NF1 and NF2 The cutaneous tumors are characterized by a rather thin epidermis whose basal layer may or may not be pigmented The collagen and elastin of the dermis is replaced by a loose arrangement of elongated connective tissue cells The lack of compactness of the normal dermal collagen allows the palpable opening in the skin The pigmented (cafe au lait) lesions contain only the normal numbers of melanocytes; the dark color of the skin is due instead to an excess of melanosomes in the melanocytes Some of the abnormally large melanosomes measure up to several microns in diameter The nerve tumors are composed of a mixture of broblasts and Schwann cells (except the optic nerve tumors, which contain a combination of astrocytes and broblasts) Predominance of one or the other of these cells in the nerve is the basis of the diagnosis of neuro broma or schwannoma Palisading of nuclei and sometimes encircling arrangements of cells (Verocay bodies) are features of both (see Chap 31) Occasionally, along spinal roots or sympathetic chains, one may nd a tumor made up of partially or completely differentiated nerve cells, a typical ganglioneuroma Clusters of abnormal glial cells may be found in the brain and spinal cord, and, according to Bielschowsky, they imply a link with tuberous sclerosis Clinically and genetically, however, the two diseases are quite independent Malignant degeneration of the tumors is found in 2 to 5 percent of cases; peripherally they become sarcomas, and centrally, astrocytomas or glioblastomas (Fig 38-11) Diagnosis If skin tumors and cafe au lait spots are numerous and Lisch nodules are present in the iris, the identi cation of the disease as type 1 neuro bromatosis offers no dif culty A history of the illness in antecedent and collateral family members makes diagnosis even more certain Doubt arises most frequently in patients with bilateral acoustic neuromas or other cranial or spinal neuro bromas or schwannomas with no skin lesions or only a few random ones The tendency for these forms of NF to have few skin lesions is well known, but differntiation of type 1 from type 2 may be uncertain unless genetic studies are undertaken Plexiform neuromas with muscle weakness, due to nerve involvement, and abnormalities of underlying bone may be confused with other tumors, especially in young children, who tend to have few cafe au lait spots and few cutaneous tumors Hypertrophy of a limb, which may also occur, requires differentiation from other developmental anomalies As already mentioned, Crowe and coworkers have expressed the view that 80 percent of patients with von Recklinghausen disease can be diagnosed by the presence of more than six cafe au lait spots Of the remaining 20 percent, those over 21 years of age will be found to have multiple cutaneous tumors, axillary freckling, and a few pigmented spots; in those under 21 with no dermal tumors
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