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Related to lamellar ichthyosis: congenital ichthyosiform erythroderma
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References in periodicals archive ?
KEY WORDS: Lamellar ichthyosis, Rickets, Vitamin D deficiency.
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
Child 2 was a 3.5-month-old female infant with severe growth failure (length 50 cm, weight 2.700 g); facial dysmorphia, brachycephaly, lamellar ichthyosis involving the whole integument, and pyodermic foci on scalp and buttocks; and polysplenia with a pancreas of normal size.
The company is also developing trifarotene for the treatment of lamellar ichthyosis.
The two most common phenotypes are lamellar ichthyosis and non-bullous congenital erythroderma which account for 75% of cases and others like Sjogren-Larsson syndrome, Netherton syndrome, Gaucher disease etc account for 15% of the cases.