Treatment Outcomes of Trichorrhexis Invaginata in SPINK5 ‐ sEDD : A Systematic Review

ABSTRACT

This systematic review evaluates treatment outcomes for trichorrhexis invaginata in SPINK5 ‐sEDD, formerly known as Netherton syndrome. SPINK5 ‐sEDD is a rare congenital disorder defined by ichthyosiform erythroderma, trichorrhexis invaginata, and atopy. In this systematic review of 44 patients, biologics (dupilumab and infliximab) were associated with the highest efficacy, with dupilumab producing three complete responses, three partial responses, and four non‐responses, and infliximab one partial response. ‐Oral retinoid therapies) led to a proportion of patients achieiving complete and partial responses. Combination regimens incorporating methotrexate, IVIG, and JAK inhibitors yielded partial responses, whereas one UVA1‐based regimen worsened hair loss. Adverse events were uncommon, limited to two cases of mild ocular irritation on dupilumab. Overall, biologics and targeted therapies appear promising, but small sample sizes, variable reporting, and limited longitudinal data highlight the need for further studies.