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At a Glance

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ICE is an acronym for ichthyosis-cheek-eyebrow. Very rare genetic disorder characterized by ichthyosis vulgaris associated with sparse lateral eyebrows.

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Genetic Inheritance

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Autosomal dominant inheritance has been advocated.

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Clinical Aspects

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Acronymic syndrome characterized by ichthyosis vulgaris, prominent and full cheeks, and sparse lateral eyebrows. Other features involve the head (brachycephaly, folded helix, large nose, high-arched palate), thorax and spine (kyphoscoliosis, pes planus, pectus excavatum or carinatum, asymmetrical rib cage with abnormally placed nipples), and limb (flat foot, genu valgum, arachnodactyly of toes and fingers).

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Anesthetic Considerations

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Cutaneous lesion could make venous access difficult. Perimedullar blockade is not contraindicated however could be difficult to realize because of the presence of kyphoscoliosis and skin lesions. Careful intraoperative monitoring is needed because of skeletal deformation.

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References

Sidransky E, Feinstein A, Goodman RM: Ichthyosis-cheek-eyebrow (ICE) syndrome: A new autosomal dominant disorder. Clin Genet 31:137, 1987.  [PubMed: 3568439]

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At a Glance

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I-cell disease stands for inclusion cell disease. It is a genetically inherited lysosomal storage disease clinically similar to Hurler syndrome (without mucopolysaccharides) and originally characterized by the presence of intracytoplasmic inclusions in fibroblasts (“inclusion cells” or “I cells”).

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Synonyms

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GNPTA Deficiency; Inclusion Cell Disease; Leroy Disease; Mucolipidosis II (ML II); N-Acetylglucosaminyl-1-Phosphotransferase Deficiency.

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Nature

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Genetic disorder involving abnormal trafficking of lysosomal enzymes. The disease was classified as mucolipidosis type II because it had clinical characteristics of both the mucopolysaccharidoses and the sphingolipidoses.

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Incidence

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1:640,000 live births in the Netherlands. In the French Canadian population of Saguenay Lac Saint-Jean of the province of Quebec, the estimated prevalence at birth is 1:6184, giving a carrier frequency of 1/39. No ethnic or sexual predilection. Life expectancy is reduced (first decade); patients usually die of pneumonia or congestive heart failure.

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Genetic Inheritance

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Autosomal recessive. Caused by a deficiency of the enzyme N-acetylglucosaminyl-1-phosphotransferase, which is produced by the GNPTA gene located at chromosome band 4q21-q23.

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Pathophysiology

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The disease results from abnormal enzyme transport. The deficiency is N-acetylglucosamine-1-phosphotransferase, a membrane enzyme that catalyzes the formation of mannose-6-phosphate (Man-6-P) on nascent lysosomal enzymes (by ribosomes). This Man-6-P component is recognized by Man-6-P receptors, which direct the transfer of lysosomal enzymes into lysosomes. This failed internalization results in release of lysosome enzymes into the extracellular medium instead. Although all cells are deficient in phosphotransferase activity, not all cells are deficient in lysosomal enzyme content, indicating that some cells have Man-6-P–independent pathways. The functional deficiency of lysosomal enzymes results in abnormal cell architecture (vacuolization and formation of inclusions) in cells of mesenchymal origin, which involves several tissues ...

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