A Mother and Two Children With Nonbullous Congenital Ichthyosiform Erythroderma

Abstract

A mother and her two daughters were all afflicted by congenital nonbullous ichthyosis. The clinical and ultrastructural picture are in accordance with recessive congenital ichthyosiform erythroderma. The mode of inheritance for the children is assumed to be by pseudo-dominance. Nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis are probably heterogeneous.

Primary hereditary ichthyoses in the Eastern Province of Saudi Arabia

“…The majority (20 of the 24 patients) were born as collodion membrane babies. These findings are consistent with previous observations 6,7 , 11,13 , 14 …”

“…Some authorities regard NBIE as a severe variant of LI, whereas others refer to it as “erythrodermic lamellar ichthyosis.” 1 Clinically, the differentiation of NBIE from other congenital dermatoses, such as congenital psoriasis, congenital pityriasis rubra pilaris, and Leiner's disease, is sometimes difficult 1 . NBIE is inherited as an autosomal‐recessive trait 1,7 . It may be caused by the same genetic entity as that which produces LI, with different clinical expression, 1,7 , 8 or by a different genetic entity 1,7 , 8 …”

“…NBIE is inherited as an autosomal‐recessive trait 1,7 . It may be caused by the same genetic entity as that which produces LI, with different clinical expression, 1,7 , 8 or by a different genetic entity 1,7 , 8 Collodion membrane baby.…”

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

“…They hypothesised that hypohidrosis in patients with ARCI is due to dysfunction of TGase-1 in sweat glands and that TGase-1 may contribute to the reinforcement of the characteristic spiral architecture of the acrosyringia 65. Several case series support our finding of an association between the presence of mutations predicted to truncate TGase-1 and hypohidrosis and/or heat intolerance 15 17 69. Consistent with our findings, Yotsumoto et al reported a Japanese patient with ARCI and homozygosity for TGM1 missense mutations, who had reduced TGase-1 enzyme activity but normal sweating 32…”

Consequences of Seven Novel Mutations on the Expression and Structure of Keratinocyte Transglutaminase

“…The face is not involved and there is no alopecia or ectropion. The clinical data of the affected members of family LI-20 have been described earlier (36). Patient IV.4 of LI-22 (see Fig.…”