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. Author manuscript; available in PMC: 2021 Apr 1.
Published in final edited form as: Acta Neuropathol. 2019 Apr 8;139(4):625–641. doi: 10.1007/s00401-019-02002-2

Table 1.

Clinical manifestations and pathology of NF1

Non-Neoplastic Manifestations
Ophthalmic

  • Lisch nodules

  • Diffuse hamartomatous infiltration of the uveal tract
Central Nervous System

  • Unknown bright objects (UBOs)

  • Macrocephaly

  • Learning disabilities (ADHD)

  • Epilepsy

  • Autism

  • Hydrocephalus

  • Aqueductal stenosis

  • Cerebral arteriopathy (Moyamoya disease)
Skin

  • Café au lait spots

  • Axillary/inguinal (intertriginous skin) freckling
Musculoskeletal

  • Sphenoid wing dysplasia/hypoplasia

  • Scoliosis

  • Pseudoarthrosis

  • Bowing of long bones
Cardiovascular

  • Hypertension

  • Renal artery stenosis

  • Pulmonary artery stenosis
Central Nervous System Tumors

  • Pilocytic astrocytoma

  • Diffuse astrocytomas (WHO grades II-IV)

  • SEGA-like astrocytomas

  • Glioneuronal Tumors

  • Indeterminate Gliomas
Peripheral Nervous System Tumors

  • Cutaneous Neurofibroma

  • Diffuse Neurofibroma

  • Plexiform Neurofibroma

  • Massive Soft Tissue Neurofibroma

  • Malignant Peripheral Nerve Sheath Tumor
Other Tumors

  • Gastrointestinal Schwannoma

  • Gastrointestinal Stromal Tumor

  • Intestinal Ganglioneuromatosis

  • Pheochromocytomas

  • Glomus Tumors

  • Neuroendocrine Neoplasms

  • Juvenile Myelomonocytic Leukemia

  • Breast Carcinoma

  • Rhabdomyosarcoma