Lamellar ichthyosis.
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis (LI). LI and nonbullous congenital ichthyosiform erythroderma (NBCIE) represent phenotypes at the poles of the autosomal recessive ichthyosis spectrum. Mutations in genes encoding transglutaminase 1 (TGM1), the ABCA12 transporter (ABCA12), ichthyin, lipoxygenase 3 (ALOXE3), and 12(R)-lipoxygenase (ALOX12B) have been shown to underlie both NBCIE and LI.
Victor
Frank
F
Department of Dermatology, New York University School of Medicine, USA.
Schaffer
Julie V
JV
D002648:Child; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D008297:Male; D012867:Skin / Q000473:pathology*