NF1, or von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans, with a birth incidence of 1 in 3500.2 4
Discovered by chance in 1989, it was localised to the long arm of chromosome 17 when there are chromosomal exchanges between chromosome 17 with chromosome 1 and 22.4
NF1 is typically characterised by café-au-lait spots, freckling, skin neurofibroma, PNF, bony defects, Lisch nodules and tumours of the central nervous system.5
Despite the autosomal dominant trait of NF1, the majority of patients with such a condition are spontaneous mutations.6
Furthermore, the range and severity of clinical features of NF1 are varied even among relatives with the identical genotype.6 7
PNF, an uncommon benign tumour, usually presents at birth or in the first years of life.7
The majority of such peripheral nerve tumours are benign, but malignant transformation may occur.2
There are two types of PNFs: diffuse, and the less common nodular, as in our patient. The diagnosis of NF1 is established clinically and pathologically based on two out of seven diagnostic features set out by the National Institutes of Health in 1987. It is crucially important to elicit the positive family history, as only two of the seven criteria were met in our patient. In our case, this was deemed as a pitfall in history taking, but more importantly, as a learning experience. Lumps that appear within few months and increase in size should alert the doctor regarding the possible diagnosis, and further family history will need to be elicited.
There is no demonstrated association between clinical features of NF1 and PNF, as shown from a retrospective study.8
In addition, malignant tumours arising from PNFs may develop asymptomatically until distant metastases occur.7
This highlights the necessity to have serial follow-up with examinations, for instance, in our patient. The diagnostic tool of choice is usually MRI. Positron emission tomography is a useful technique in presurgical differentiation between benign and malignant tumours.2
The current management of NF1, though still not well defined, focuses on genetic counselling and symptomatic treatment of specific complications.9
Surgery, radiation and, in rare instances, chemotherapy are the major treatment modalities to date,2 9
although no studies show any surgical technique attaining long-term relief from neurofibromas. Genetic counselling is essential for adult patients, because molecular diagnostic testing can minimise the risk of transmission to children.4
In our patient, the current management is radiological surveillance with a multidisciplinary approach to maintain, if not improve, her quality of life.
- Such cases can presents pitfalls in history taking.
- Lumps that appear within few months and increase in size should alert the doctor regarding the possible diagnoses, and further family history will need to be elicited.