ICE is an acronym for ichthyosis-cheek-eyebrow. Very rare
genetic disorder characterized by ichthyosis vulgaris associated with sparse
Autosomal dominant inheritance has been
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).
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.
Sidransky E, Feinstein A, Goodman RM: Ichthyosis-cheek-eyebrow (ICE)
syndrome: A new autosomal dominant disorder. Clin Genet
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”).
GNPTA Deficiency; Inclusion Cell Disease; Leroy Disease;
Mucolipidosis II (ML II); N-Acetylglucosaminyl-1-Phosphotransferase
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.
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.
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.
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