Netherton Syndrome - Why ENT Surgeons should be aware of thi
A 31-year-old woman with Netherton syndrome diagnosed in childhood was referred to our clinic for evaluation and treatment of an atrophic defect of the right ala of the nose. The patient reported that the lesion began to develop with a small scab approximately four weeks ago and developed into an expanding, painless ulcer.

Patient history included previous hospital admissions for systemic and topical treatment of the underlying disease, and a consanguin marriage in former generations.

The patient’s skin was erythro-dermic, xerotic and scaling. On palpation, however, the skin-soft tissue envelope appeared soft and pliable. There was an endophytic 4 millimeter ulcer of the right nasal ala. Endoscopic rhinoscopy revealed the full thickness defect. The histologic evaluation of a biopsy from the edge of the defect showed a well-differentiated squamous cell carcinoma.

The tumor was resected under local anaesthesia. In terms of reconstruction, inner lining was reconstructed with two epidermal turn-in flaps of the right nasal sidewall. paramedian forehead flap, based on the supratrochlear artery was selected for epithelial closure.
Points Worth Discussion:-
1. Comèl-Netherton syndrome is an inherited ichthyosis that is associated with highly impaired epidermal cornification and barrier function.
2. Netherton syndrome may affect the T-cell differentiation leading to reduced cellular immunity. Therefore patients develop recurrent skin infections for example with Human papillomavirus (HPV).
3. A factor for the susceptibility to squamous cell carcinoma in Netherton syndrome patients could be the multiple treatments with aggressive medication like in-terferon-alpha, retinoids, methotrexate, corticosteroids or PUVA aka psoralen plus ultraviolet A, which is known to induce mutations of the tumor suppressor protein p53.

Source: https://bmcearnosethroatdisord.biomedcentral.com/articles/10.1186/1472-6815-13-7
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