Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

Congenital reticular ichthyosiform erythroderma.

Non-bullous congenital ichthyosiform erythroderma.

A 4-day-old neonate was brought with complaints of fissuring and peeling of skin involving almost the whole body. The neonate had generalized desquamation not even sparing the palms, soles and face. The parents informed that the baby was born, enclosed in a constricting parchmentlike membrane (collodion baby) that had gradually comeoff. There was a past history of a child born with similar pres...

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as gui...

CLINICAL REPORT Congenital Reticular Ichthyosiform Erythroderma — Ichthyosis Variegata: a Case Report and Review of the Literature

We present a 32-year-old white patient with congenital reticular ichthyosiform erythroderma, also known as ichthyosis variegata. The patient had typical clinical features with areas of normal appearing skin surrounded by erythematous hyperkeratotic patches. The smaller ‘‘confetti-like’’ patches were mostly present on the trunk, while the larger areas forming a reticular pattern predominated on ...

Collodion Baby with TGM1 gene mutation

Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB tha...