Xlinked Inheritance

A glycolipid Iysosomal storage disease with a wide spectrum of clinical findings: angiokeratosis is a characteristic feature; lancinating limb pain is often the first symptom; joint pain may resemble that of juvenile rheumatoid arthritis; ocular, cardiac, and gastrointestinal symptoms may be present; cerebral vascular accidents can occur in young adults; neuropathy; renal disease manifests as inability to concentrate urine, urinary frequency, polyuna, and nocturia

Seen almost entirely in females; characterized by skin lesions present during the first few weeks of life that are erythematous, macular, papular, vesicular, or bullous; second stage, skin lesions are variably verrucous, lichenoid, or keratotic; third stage, lesions are notable for hyperpigmentation; abnormalities of the eyes, central nervous system, hair, teeth, and bone are commonly associated

_TABLE 32-2 -- DIAGNOSTIC CRITERIA FOR NEUROFIBROMATOSIS_

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