From the Guidelines
Neurocutaneous markers, including café-au-lait spots, ash leaf macules, shagreen patches, angiofibromas, and port-wine stains, are crucial in identifying underlying neurological conditions associated with myelopathy, such as neurofibromatosis, tuberous sclerosis, or Sturge-Weber syndrome. When evaluating a patient with myelopathy, a thorough skin examination is essential as these cutaneous findings can suggest specific genetic disorders affecting the spinal cord. For example, multiple café-au-lait spots (six or more that are >5mm in prepubertal patients or >15mm in postpubertal patients) strongly suggest neurofibromatosis type 1, which can cause spinal cord compression through neurofibromas 1. Similarly, the presence of ash leaf macules and shagreen patches may indicate tuberous sclerosis complex, which can present with spinal cord involvement. Port-wine stains in a trigeminal distribution might suggest Sturge-Weber syndrome, which occasionally has spinal manifestations. Other relevant markers include hypopigmented streaks in incontinentia pigmenti and cutaneous hemangiomas in Cobb syndrome.
Key Neurocutaneous Markers
- Café-au-lait spots: associated with neurofibromatosis type 1
- Ash leaf macules: associated with tuberous sclerosis complex
- Shagreen patches: associated with tuberous sclerosis complex
- Angiofibromas: associated with tuberous sclerosis complex
- Port-wine stains: associated with Sturge-Weber syndrome
- Hypopigmented streaks: associated with incontinentia pigmenti
- Cutaneous hemangiomas: associated with Cobb syndrome
Early recognition of these neurocutaneous markers allows for prompt neuroimaging, genetic testing, and appropriate management of the underlying condition causing myelopathy, potentially preventing progressive neurological deterioration 1.
From the Research
Neurocutaneous Markers in Myelopathy
There is limited information available on neurocutaneous markers in myelopathy. However, some studies provide insight into the diagnosis and evaluation of myelopathy:
- The clinical evaluation and MRI spine are crucial in establishing the correct diagnosis and treatment plan for myelopathy 2.
- Advances in diagnostic neuroimaging techniques and improved understanding of immune pathogenic mechanisms have expanded the knowledge of inflammatory and noninflammatory myelopathies 3.
- Biomarkers of disease, such as anti-aquaporin 4 and anti-myelin oligodendrocyte glycoprotein antibodies, have been identified in myelitis and other immune-related mechanisms 3.
- Imaging observations, such as MRI "pancake" gadolinium enhancement pattern with spondylotic myelopathy and subpial enhancement with neurosarcoidosis, have improved diagnostic specificity 4.
- Genetic markers and biomarkers have enhanced the specificity of diagnosis, and improved imaging has shown that the same cause can present more variably than previously appreciated 4.
Diagnosis and Evaluation
The diagnosis of myelopathy requires integration of clinical, laboratory, and imaging parameters:
- Clinical findings, time course, and radiographic patterns can help identify the causes of myelopathy 4.
- Neuroimaging helps distinguish compressive etiologies that may require urgent surgery from intrinsic etiologies that generally require medical treatment 5.
- Awareness of the clinical and magnetic resonance imaging characteristics of different myelopathies is fundamental for a correct diagnosis 5.
- A detailed history and physical examination are necessary to define the clinical syndrome, and neuroimaging is indicated in most instances of new-onset myelopathy 6.