Nail involvement in autosomal recessive congenital ichthyosis

Clin Dermatol. 2022 Jul-Aug;40(4):388-394. doi: 10.1016/j.clindermatol.2022.02.012. Epub 2022 Feb 15.


Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. Nail changes in ARCI are generally frequent but have been rarely reported and studied in the literature. This stimulated us to conduct a study to describe nail changes in ARCI using a combined literature review and prospective examination from March 2019 to August 2019 (6 months) in the Dermatology Department of Habib Thameur Hospital, Tunis, Tunisia. A total of 25 patients with ARCI had a clinical and dermatoscopic review. The mean age was 19.8 years (range, 1-43), with a female predominance (17 women [68%] and 8 men [32%]). Seventy-two percent had nail unit changes involving more than one nail, none had single nail disease, 64% had involvement of fingernails, and 68% had involvement of toenails, with cases including periungual hyperkeratosis (64%), xanthonychia (40%), pachyonychia (40%), macrolunula (36%), digital clubbing (32%), and onychomycosis (24%). Rarer findings included pseudoainhum, transverse leukonychia, longitudinal melanonychia, and subungual hemorrhages, each in one patient (4%). There was a statistically significant increased frequency of nail changes in adults over children (P = .001). Nail abnormalities statistically associated with ARCI were macrolunula, periungual hyperkeratosis, xanthonychia, and pachyonychia. A comprehensive review of the literature was performed, creating the first comprehensive review addressing nail disease in ARCI.

Publication types

  • Review

MeSH terms

  • Adult
  • Child
  • Female
  • Humans
  • Ichthyosis* / diagnosis
  • Ichthyosis, Lamellar* / diagnosis
  • Male
  • Nail Diseases* / genetics
  • Nails
  • Nails, Malformed* / genetics
  • Prospective Studies
  • Young Adult