Characteristics of neurofibromatosis-type scoliosis

NF-1 can be diagnosed if two or more of the following conditions are met: (1) 6 or more milky café au lait spots of the skin with a diameter of more than 5 mm (the maximum diameter of which is more than 5 mm before puberty and more than 15 mm after puberty); (2 or more neurofibromas of any type, or a plexiform neurofibroma; (3) freckles in axillary or inguinal areas; (4) optic nerve glioma or other parenchymal glioma; (5) 2 or more iris malformations; (6) characteristic bony lesions, including scoliosis, pseudoarthrosis or long bone cortex or other parenchymal glioma; ⑤ 2 or more iris malformations; ⑥ Characteristic bony lesions, including scoliosis, pterygoid dysplasia, pseudoarthrosis, or thinning of the bone cortex of the long bones; ⑦ A family history of NF-1 in an immediate first-degree relative; Some Explanations: Musculoskeletal lesions (other than cranial and spinal): “banded ribs “, tibial bowing, pseudoarthrosis, overgrowth of fingers, toes, or limbs; Imaging, main features compared to idiopathic scoliosis: scoliosis is common in the thoracic segments, followed by the thoracolumbar and cervical segments, and scoliosis in the lumbar segments is uncommon. The scoliosis segments are short (usually involving 4-6 vertebrae), and the angle of lateral curvature is sharp. The transverse processes are “fusiform” and the ribs are pointed with a “pencil” sign. There is also cuneiform change of vertebrae, severe rotation of the spine, enlargement of the spinal membrane, enlargement of the spinal canal, scallop-like change of the vertebrae, and sharp angular deformity in the sagittal plane of the parietal region. Neurofibroma: inconspicuous in infants and young children, increasing after puberty, nodular elevation, consistent with the skin color or dark red, several millimeters or several centimeters, mostly seen in the trunk, limbs and head are rare. It is usually seen in trunk, limbs and head, and is rare. It is flat or protrudes from the skin surface, and is conical, hemispherical or pendulous, with hernia-like sensation when touched, and the top of the tumor can be pressed into the skin by the fingertip, and then return to its original state after putting down the finger, which is called the button hole sign, and there is no self-conscious symptom. Plexiform neurofibroma: Plexiform neurofibroma often spreads to the face, affecting the face and vision; located in the neck and mediastinum can cause airway obstruction. In type I, optic nerve glioma is the most common tumor in the central nervous system, involving about 15% of patients, manifesting as progressive vision loss, optic nerve atrophy, followed by pain or eyeball protrusion, which may be unilateral or bilateral. Iris miscegenation tumor: Lisch’s small body, for some slightly raised brown plaques, the edge is clear, no special symptoms, does not affect vision, 5-6 years of age about 1/2 have this sign, with age gradually increase, to 21 years of age almost all patients have this sign.