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January 2015

Phenotypic Expansion in Ichthyosis With Confetti

Author Affiliations
  • 1Department of Pathology, Yale School of Medicine, New Haven, Connecticut
  • 2Department of Dermatology, Yale School of Medicine, New Haven, Connecticut
JAMA Dermatol. 2015;151(1):15-16. doi:10.1001/jamadermatol.2014.2525

Cases of a distinct congenital ichthyosiform erythroderma with evolving white spots were first reported in 1984 and have been assigned a variety of names including ichthyosis en confetti, ichthyosis variegata, congenital reticular ichthyosiform erythroderma (CRIE), and MAUIE syndrome (micropinnae, alopecia universalis, congenital ichthyosis, and ectropion). The first report of this form of heritable ichthyosis was made in 1984 by French dermatologists Camenzind et al1 as “ichthyose en confettis, and 2 patients were described: a 14-year-old boy and an unrelated 12-year-old girl. Both had been born erythrodermic and had widespread ichthyosiform erythroderma as children, but at the age of 10 years began developing patches of normal-appearing skin on the trunk that enlarged slowly.1 Biopsy specimens of affected skin showed parakeratosis, acanthosis, and vacuolization of keratinocytes in the upper layers of the epidermis. The female patient was reported in 2 later publications, which noted hypertrichosis and continued enlargement of areas of apparently normal skin with slow development of areas of hyperpigmentation limited to erythrodermic skin. On histopathologic examination, these hyperpigmented macules showed an increased number of dendritic melanocytes.2,3 In another German report of a 57-year-old woman with ichthyosiform erythroderma and evolving white spots, a diagnosis of CRIE was made on the basis of histological findings of affected skin and clinical presentation. A biopsy result of one of her white spots provided the first evidence that white spots were, in fact, normal skin, and normal keratinization was identified.4 Elbaum et al5 and Hendrix et al6 subsequently described 2 cases of what they coined MAUIE syndrome, which is characterized by congenital ichthyosiform erythroderma with evolving white spots, micropinnae, squamous cell skin cancers, and ectropion. Notably, the report by Hendrix et al6 again showed that a biopsy of a white spot revealed normal skin histology. In 2003, Krunic et al7 described a single case of CRIE with a slightly different phenotype showing small, reticulate areas of apparently normal skin on a background of erythroderma with no other associated clinical findings described. These initial case reports were linked by the common features of erythroderma and evolving white spots but differed with respect to white spot size and associated clinical findings. Subsequent reports, including the case series reported by Spoerri et al8 in this issue, have further expanded the phenotypic spectrum of ichthyosis with confetti (IWC).