Autosomal recessive congenital ichthyosis 4B

Definition

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

Also known as ARCI4B, autosomal recessive congenital ichthyosis type 4B, Harlequin Ichthyosis, HI, ichthyosis , congenital, autosomal recessive 4b (harlequin), ichthyosis congenita, Harlequin type, ichthyosis fetalis, Harlequin type, ichthyosis, congenital, autosomal recessive type 4B — per MONDO

Also identified as

• DOID 0060713 per MONDO
• NCIT C98934 per MONDO
• OMIM 242500 per MONDO
• Orphanet 457 per MONDO
• SCTID 205548006 per MONDO
• UMLS C0598226 per MONDO

Affected Organs