Report of a family with an unusual expression of recessive ichthyosis. Review of 42 cases

Ocular Manifestations of Congenital Lamellar Ichthyosis

“…Lamellar ichthyosis and non-bullous ichthyosiform erythroderma lie at each end of a phenotypic spectrum of autosomal recessive, non-bullous ichthyotic disorders (7)(8)(9). Clinically, they are now regarded as distinct entities but are histologically indistinguishable (5).…”

Autosomal Recessive Congenital Ichthyosis in Sweden and Estonia: Clinical, Genetic and Ultrastructural Findings in Eighty-three Patients

“…Table II. Treatments used by patients in the three groups (see Table I non-LI/non-CIE in the past (21). This group of patients is probably at least as heterogeneous as group B in terms of clinical diversity and genetic background.…”

Differential patterns of filaggrin expression in lamellar ichthyosis

“…These manifestations are combined variably in each patient and hence LI can be described as phenotypically heterogeneous. 1,2 LI is also a genotypically heterogeneous process, 3,4 as although mutations in the epidermal transglutaminase gene (located on chromosome 14) have been reported in several families affected by LI, [4][5][6] in other cases no structural alterations in this gene have been found. 3,4,7 A second locus, located on chromosome 2, has been implicated in the pathogenesis of some cases of LI.…”