• Shefali Rajpopat, Celia Moss, Jemima Mellerio, Anders Vahlquist, Agneta Gånemo, Maritta Hellstrom-Pigg, Andrew Ilchyshyn, Nigel Burrows, Giles Lestringant, Aileen Taylor, Cameron Kennedy, David Paige, John Harper, Mary Glover, Philip Fleckman, David Everman, Mohamad Fouani, Hulya Kayserili, Diana Purvis, Emma Hobson, Carol Chu, Charles Mein, David Kelsell, and Edel O'Toole.
• Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, 4 Newark St, London E1 2AT, England. s.rajpopat@qmul.ac.uk
• Arch Dermatol. 2011 Jun 1; 147 (6): 681-6.

ObjectiveTo assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients.DesignMulticenter, retrospective, questionnaire-based survey.SettingDermatology research institute.ParticipantsPatients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis.Main Outcome MeasuresReferring physicians were asked to complete a questionnaire using the patients' notes, detailing the clinical outcome of the affected child. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques.ResultsOf the 45 cases, the ages of the survivors ranged from 10 months to 25 years, with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve survival, since 83% of those treated survived, whereas 76% who were not given retinoids died. Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected 44%. Three children developed an inflammatory arthritis, and developmental delay was reported in 32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas all deaths were associated with homozygous mutations.ConclusionsHarlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.

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