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Autosomal Recessive Congenital Ichthyosis 4B (ARCI4B) or Harlequin Ichthyosis (HI) is classified within a group of hereditary skin disorders characterized by the aberrant cornification of the epidermis leading to clinical manifestations; which are mainly dryness and scaling of the whole body skin (Shigehara et al. 2016). For the first time, HI was reported in 1750 by Reverend Oliver Hart and it has been calculated that incidence is approximately 1 in 300,000 (Ahmed and O’toole 2014; Waring 1932). These disorders present a spectrum of severity, with ARCI4B being a very rare yet most severe, possibly lethal subtype associated with mutations in particular genes that affect skin barrier function (Hake et al. 2022). The age at onset is typically at birth or during the neonatal period and patients and newborns with ARCI usually manifest a collodion membrane at birth (Hake et al. 2022).

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Ichthyosis, Congenital, Autosomal Recessive 4B (ARCI4B)

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Arman MomeniAmjadi,
  • Alireza Daneshvar,
  • Maryam Nasimi

摘要

Autosomal Recessive Congenital Ichthyosis 4B (ARCI4B) or Harlequin Ichthyosis (HI) is classified within a group of hereditary skin disorders characterized by the aberrant cornification of the epidermis leading to clinical manifestations; which are mainly dryness and scaling of the whole body skin (Shigehara et al. 2016). For the first time, HI was reported in 1750 by Reverend Oliver Hart and it has been calculated that incidence is approximately 1 in 300,000 (Ahmed and O’toole 2014; Waring 1932). These disorders present a spectrum of severity, with ARCI4B being a very rare yet most severe, possibly lethal subtype associated with mutations in particular genes that affect skin barrier function (Hake et al. 2022). The age at onset is typically at birth or during the neonatal period and patients and newborns with ARCI usually manifest a collodion membrane at birth (Hake et al. 2022).