Pulsed dye laser for facial erythema in Netherton syndrome

Abstract

Dear Editor, Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of atopic diathesis, ichthyosis linearis circumflexa (ILC) and hair shaft abnormalities. It is caused by pathogenic variants in the SPINK5 gene, also known as LEKTI (lympho-epithelial Kazal-type 5 related inhibitor). Currently, no cure or satisfactory treatments are available for NS. 1 A 34-year-old male patient with NS presented with persistent facial erythema. This manifestation of NS had the most important impact on our patient's emotional well-being in adult life, leading to embarrassment and lowered self-esteem. Skin examination revealed serpiginous erythematous plaques with double-edge circumferential scales on the arms and trunk, diagnosed as ichthyosis linearis circumflexa. In 2006, genetic testing revealed a mutation in the SPINK5 gene.Previous treatment with topical 0.33% brimonidine gel on the whole face resulted in a partial resolution of the redness for only 5 h. Topical corticosteroids/calcineurin inhibitors and skin moisturizers were used on the trunk, with good effect. He also participated in a clinical trial, where the protease inhibitor LEKTI cream was applied on the trunk, without any improvement of erythema.Due to the significant impact of facial erythema on our patient's quality of life, he consented to pulsed dye laser (PDL) treatment. PDL was performed on the entire face, and improvement of erythema was already observed after the first session Figure 1. The treatment was performed with the lowest purpuragenic fluence according to individual response. Post laser purpura and facial swelling disappeared after 2 weeks. A 595 nm Candela PDL system (Vbeam Perfecta, Syneron Candela Corporation) was used. Previous to treatment of the whole face, an initial test spot with a fluence of 15.5 J/cm 2 , 7 mm spot size and a pulse width of 20 ms were used.Based on the biological response of the test area, the fluence was adjusted up or down. In the consecutive treatments, the following laser settings were used: The spot size varied between 5 and 7 mm, the pulse width varied between 10 and 20 ms and the fluence varied between 6.5 and 17 J/ cm 2 . Treatment fluence was selected to induce faint transient purpura at the purpura threshold. Non-contact cooling was provided by the dynamic cooling device (DCD), 30/20 ms, to minimize epidermal damage. Laser pulses were overlapped by approximately 10% to have a uniform result.We performed initially three PDL treatments with good response. Treatment intervals were 3-8 months. The patient reported a marked improvement on his quality of life due to reduced facial erythema, especially during physical exercise. Since the facial erythema gradually recurred after 3 years, we performed two additional PDL sessions with an interval of 2 months (Figure 2).