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Kyphoscoliosis: looking beyond the spine
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  1. Joana Fonseca Ferreira,
  2. Margarida Coutinho,
  3. Cátia Duarte,
  4. José da Silva
  1. Rheumatology Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  1. Correspondence to Dr Joana Fonseca Ferreira, joana.fonseca.ferreira{at}gmail.com

https://doi.org/10.1136/bcr-2014-209096

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    Description

    A 38-year-old woman was referred to the rheumatology department due to mechanical low back pain and progressive scoliosis that started in adolescence. She had no other joint or systemic symptoms despite pigmented skin lesions scattered throughout the body.

    The physical examination revealed severe dorsal kyphosis associated with structural lumbar scoliosis and numerous ‘café-au-lait’ lesions (figure 1) spread over the skin, freckling in the arm pits and inguinal folds (figure 2). The radiographs revealed spinal misalignment, without fractures or lytic lesions. No relevant changes were observed in laboratory tests (figure 3).

    Figure 1
    Figure 1

    Dorsal ‘cafe-au-lait’ skin lesion.

    Figure 2
    Figure 2

    Armpit lesions: axillary freckling.

    Figure 3
    Figure 3

    Anteroposterior X-ray exhibiting an exuberant dorsolumbar scoliosis.

    A diagnosis of neurofibromatosis type 1 (NF1) was established.1 Genetic testing revealed a mutation on NF1 gene, confirming the diagnosis.

    One year later, the patient presented with persistent frontal headache, resistant to acetaminophen and non-steroidal anti-inflammatory drugs. A cranial CT scan revealed bilateral thickened optic nerves, suggesting optic gliomas (figure 4), a hallmark of this disease.

    Learning points

    • Neurofibromatosis type 1 (NF1) is an autosomal dominant disease, mainly characterised by the presence of ‘café-au-lait’ spots and neurofibromas (dermal being the most common).2

    • NF1 can have cardiovascular, ophthalmological and osteoarticular manifestations, including kyphoscoliosis (occurring in approximately 10% of the cases), short stature and sphenoid wing dysplasia. The association of typical skin manifestations should suggest the diagnosis and prompt appropriate investigation.3

    • There is no effective medical treatment to prevent or reverse the characteristic lesions of NF1, but an early diagnosis allows genetic counselling and early detection of treatable complications.

    Figure 4
    Figure 4

    Cranial CT scan revealing bilateral thickening of the optic nerves (arrows), suggesting the presence of optic gliomas.

    References

    1. ↵
      [No authors listed]. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575–8. doi:10.1001/archneur.1988.00520290115023
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    2. ↵
      1. Friedman JM
      . Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol 2002;17:548–54; discussion 71–2. doi:10.1177/088307380201700802
      OpenUrlAbstract/FREE Full Text
    3. ↵
      1. Ferner RE,
      2. Huson SM,
      3. Thomas N, et al
      . Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81–8. doi:10.1136/jmg.2006.045906
      OpenUrlAbstract/FREE Full Text
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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.