Novel ALDH3A2 Heterozygous Mutations Are Associated with Defective Lamellar Granule Formation in a Japanese Family of Sjögren–Larsson Syndrome Akihiko.

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Novel ALDH3A2 Heterozygous Mutations Are Associated with Defective Lamellar Granule Formation in a Japanese Family of Sjögren–Larsson Syndrome Akihiko Shibaki, Masashi Akiyama, Hiroshi Shimizu Journal of Investigative Dermatology Volume 123, Issue 6, Pages 1197-1199 (December 2004) DOI: 10.1111/j.0022-202X.2004.23505.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features and fatty aldehyde dehydrogenase (FALDH) gene (ALDH3A2) mutations. (A) Low magnification clinical view of case 1. Xerotic skin and fine scales over the entire body and spastic paresis on both lower extremities. (B) High magnification clinical view of case 2. Fine gray scales present on the dorsal feet. (C) Sequence analysis of the ALDH3A2. A combination of heterozygous mutations derived from their mother (481delA in exon 4) and father (1087–1089delGTA in exon 7) were detected. (D) A sequence alignment between the FALDH, rat class 3 and human class 1 and class 2 ALDH showing the relative locations of key residues in these enzymes. Strictly conserved residues are highlighted in red, while highly conserved residues are shown in blue. Secondary structure components found in the class 3 rat ALDH structure are presented in blue, bars represent α-helices and arrows represent β-strands. (Modified from the paper byLiu et al, 1997.) Journal of Investigative Dermatology 2004 123, 1197-1199DOI: (10.1111/j.0022-202X.2004.23505.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Morphological features of the patient's epidermis. (A) Histopathology of ichthyotic skin lesion of case 1. Orthohyperkeratosis with mild hypergranulosis was observed. (B) Ultrastructurally, at the stratum granulosum/stratum corneum interface, abnormal apparently empty lamellar granules (white arrowheads) were seen in the granular cells and lipid vacuoles (white arrows) were observed in the cornified cells. (C–E) Vacuoles, presumably lipid droplets (white arrows) and irregularly shaped abnormal intercellular materials (black arrows) were apparent in the stratum corneum layers. Scale bars=50 (A) and 0.3 μm (B–E). Journal of Investigative Dermatology 2004 123, 1197-1199DOI: (10.1111/j.0022-202X.2004.23505.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions