Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case.

Abstract

Background: Comèl-Netherton syndrome is an inherited ichthyosis that is associated with highly impaired epidermal cornification and barrier function. Literature sparsely reports of the occurrence of early onset skin cancer in people with Netherton syndrome. To the best of our knowledge the suitability of the severely altered skin in patients with Netherton syndrome for techniques of facial plastic reconstructive surgery has not been discussed in literature yet.

Case presentation: We present a 31-year-old caucasian female patient with Netherton syndrome who developed a defect of the right nasal ala. Biopsy revealed a well differentiated squamous cell carcinoma.We describe the reconstruction of a full thickness nasal defect with a paramedian forehead flap and an epidermal turn-in flap in Netherton syndrome. Despite the altered skin texture, reconstruction and healing were uneventful and the surgical result was favourable.

Conclusion: Therefore the authors state that the development of cutaneous malignancies should be included as a possible complication in patients with Netherton syndrome. Standard techniques of surgical facial reconstruction can be applied in these patients; healing and outcome do not appear to be negatively affected by the underlying disease.