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S.F. Rajpar, T. Cullup, D.P. Kelsell, C. Moss, A novel ABCA12 mutation underlying a case of Harlequin ichthyosis, British Journal of Dermatology, Volume 155, Issue 1, 1 July 2006, Pages 204–206, https://doi.org/10.1111/j.1365-2133.2006.07291.x
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Conflicts of interest: None declared.
Harlequin ichthyosis (HI) is a severe autosomal recessive disorder characterized by strikingly thickened skin, deep fissures, ectropion and eclabium.1 Affected babies often die soon after birth from infection, impaired feeding and ventilation, or temperature dysregulation. The survival rate beyond the neonatal period has improved with developments in supportive care and oral retinoid treatment, with the skin condition in survivors resembling severe nonbullous congenital ichthyosiform erythroderma. Mutations in the recently identified ABCA12 gene (chromosome 2q35) were found to underlie 11 of 12 unrelated cases of HI.2 Another study has confirmed this association in four pedigrees with HI,3 indicating that ABCA12 mutations are a major cause of HI. Here, we report a novel homozygous ABCA12 mutation in a boy with HI.
Patient and methods
This 5‐and‐a‐half‐year‐old son of consanguineous parents of Pakistani origin was delivered at 37 weeks by emergency caesarean section for fetal distress. He had the typical appearance of HI at birth,1 with thick yellow adherent plates of scale separated by deep erythematous fissures, marked bilateral ectropion, eclabium, nasal hypoplasia and rudimentary pinnae (Fig. 1). Distal limbs were encased and fusion of the digits required early surgical release. Histological analysis revealed a markedly orthokeratotic and thickened stratum corneum, elongated rete ridges and vacuolated Malphigian layer. Immunohistochemical analysis of transglutaminase activity was normal, excluding lamellar ichthyosis type 1.
