Type 2 Gaucher disease: the collodion baby phenotype revisited

The association of Gaucher disease, the inherited deficiency of lysosomal g lucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generate d that also exhibited ichthyotic skin, confirming that the skin disorder an d enzyme deficiency were directly related. This paper details the clinical and molecular characterisation of 6 cases of type 2 Gaucher disease present ing with the collodion baby phenotype. The identified mutant glucocerebrosi dase alleles include two novel mutations (S196P and R131L) and two rare poi nt mutations (R120W and R257Q), as well as alleles resulting from recombina tion with the nearby glucocerebrosidase pseudogene. There is significant ge notypic heterogeneity in this rare subset of patients with type 2 Gaucher d isease. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis in the newborn period.