Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

[lamellar ichthyosis]

To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA 12 gene mutations in these patients .Multicenter , retrospective , questionnaire-based survey .Dermatology research institute .Patients with harlequin ichthyosis for whom we had performed ABCA 12 mutation analysis .Referring physicians were asked to complete a questionnaire using the patients ' notes , detailing the clinical outcome of the affected child . In each case , the causative ABCA 12 mutation was identified using standard polymerase chain reaction and sequencing techniques .Of 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 .Harlequin 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 .

Diseases
Validation

Diseases presenting "respiratory failure" symptom

achondroplasia

allergic bronchopulmonary aspergillosis

congenital diaphragmatic hernia

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

harlequin ichthyosis

heparin-induced thrombocytopenia

inclusion body myositis

junctional epidermolysis bullosa

lamellar ichthyosis

legionellosis

lymphangioleiomyomatosis

proteus syndrome

pyruvate dehydrogenase deficiency

typhoid

von hippel-lindau disease

This symptom has already been validated