Phakomatoses are a group of neurocutaneous disorders characterised by involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin and eyes). Other organs may also be involved



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Phakomatoses

Clinical presentation

As is the case with many phakomatoses, NF1 results in a variety of abnormalities of variable severity. To make the clinical diagnosis you require two or more of following2:



  • > 6 cafe au lait spots evident during 1 year

  • two or more neurofibromas or one plexiform neurofibroma

  • optic nerve glioma

  • distinctive osseous lesion

  • sphenoid wing dysplasia

  • two or more iris hamartomas (Lisch nodules)   

  • axillary or inguinal freckling

  • primary relative with NF 1 with above criteria

In addition 30-60% of patients have learning disabilities.

Neoplasms

It should come as no surprise that a disease due to inactivation of a tumour suppressor gene (see below) is also associated with increased incidence of numerous tumours 1-6:



  • pheochromocytoma

  • malignant peripheral nerve sheath tumour (MPNST)

    • previously known as neurofibrosarcoma

    • overal risk of developing a MPNST is ~10%7

  • Wilms tumour

  • rhabdomyosarcoma

  • renal angiomyolipoma

  • glioma

    • juvenile pilocytic astrocytoma

    • optic nerve glioma

    • diffuse brainstem glioma

    • spinal astrocytoma and spinal pilocytic astrocytoma 9

  • carcinoid tumour(s)

  • leiomyoma(s)

  • leiomyosarcoma

  • ganglioglioma

  • leukaemia

Pathology

The NF1 gene locus is on chromosome 17q11.2 and the gene product  is neurofibromin, acts as a tumour suppressor; inactivation of the gene thus predisposes to tumour development 6.

The disease primarily is a hamartomatous disorder that involves the ectoderm and mesoderm. Usually three types of neurofibromas occur in this disorder and are distinguished on the basis of their gross and microscopic appearances. 


  • localized neurofibroma (cutaneous neurofibroma) - the most common type, is a focal lesion that typically is located in the dermis and subcutis

  • diffuse neurofibroma (sub cutaneous neurofibroma) - localised in the subcutis, usually in the head and neck region. 

  • plexiform neurofibroma - considered pathognomonic if present ; they may be seen in virtually any location but usually occur in the neck, pelvis, and extremities 


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