Extensive Cutaneous Neurofibromas with Café-au-Lait Macule: A Classical Presentation Suggestive of Neurofibromatosis Type 1

Dr. P. P. Mandal, MS (General Surgery)
General & Laparoscopic Surgeon

Clinical Presentation

An elderly woman presented with numerous, slowly progressive, painless cutaneous swellings distributed over the face, neck, upper limbs and trunk.

Clinical examination revealed hundreds of soft, skin-coloured to hyperpigmented papules and nodules of varying sizes. Several lesions were pedunculated, while others were sessile. The morphology was highly characteristic of multiple cutaneous neurofibromas.

A hyperpigmented café-au-lait macule was also noted over the trunk.

The combination of extensive cutaneous neurofibromas and characteristic pigmentary change strongly suggests Neurofibromatosis Type 1 (NF1).

Figure 1. Extensive cutaneous neurofibromas involving the face, neck and upper extremities.

Figure 2. Café-au-lait macule over the trunk in association with multiple cutaneous neurofibromas.

Discussion

Neurofibromatosis Type 1 is an autosomal dominant neurocutaneous disorder caused by pathogenic variants in the NF1 gene located on chromosome 17. The gene encodes neurofibromin, a tumour-suppressor protein involved in regulation of cellular growth.

Clinical manifestations are highly variable and may include:

• Café-au-lait macules
• Axillary or inguinal freckling
• Cutaneous neurofibromas
• Plexiform neurofibromas
• Lisch nodules and other ophthalmological abnormalities
• Skeletal manifestations
• Neurological and vascular complications

Cutaneous neurofibromas are usually benign peripheral nerve sheath tumours. Their number may progressively increase with age and, in some patients, may become extremely numerous.

Although cutaneous neurofibromas themselves are generally benign, extensive disease may result in significant cosmetic, functional, social and psychological burden.

Red-Flag Features

Any lesion showing the following changes requires further assessment:

• Rapid increase in size
• Persistent or severe pain
• Increasing firmness
• Neurological deficit
• Functional impairment
• Ulceration or bleeding
• Marked change from its previous appearance

These findings may warrant imaging and further evaluation, particularly to exclude a deeper plexiform neurofibroma or malignant peripheral nerve sheath tumour.

Management

Asymptomatic cutaneous neurofibromas do not necessarily require treatment.

Intervention may be considered for lesions causing pain, recurrent trauma, bleeding, functional difficulty or significant cosmetic concern.

Treatment options include surgical excision, electrosurgical techniques and selected laser-based procedures. In patients with extensive disease, treatment is generally individualised and may be performed in stages.

Long-term follow-up is important because NF1 is a multisystem disorder and management should extend beyond the visible cutaneous lesions.

Conclusion

Extensive cutaneous neurofibromas associated with a café-au-lait macule represent a striking clinical phenotype suggestive of Neurofibromatosis Type 1.

Recognition of the typical cutaneous morphology is important, while careful surveillance for atypical or rapidly changing lesions remains essential.

Patient Consent: Written informed consent was obtained for clinical photography and publication of the images for educational purposes.

Reference

Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine. 2021;23:1506–1513.

Keywords: Neurofibromatosis Type 1, NF1, cutaneous neurofibroma, café-au-lait macule, peripheral nerve sheath tumour, clinical image.