PMC9188366_01
Clinical features of the patient: dark, thickened and tightened lamellar scales spread over almost all the skin surface with hair loss and ectropion.
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Following the ichthyosis, he had light-to-dark-brown ichthyotic keratotic scales with hair loss, ectropion, and incomplete eye closure (Figure 1).
Dermoscopic features of the patient. Dermoscopy (x50 magnification) shows alopecia and pustules on his head (A), greasy light-brown scales on his face (B), "sheet-like" scales on his hand (C), pre-thoracic skin (D) as well as "bark-like" thickened scales with deep fissures between scales on the abdominal area (E) and on his thigh (F).
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Dermoscopy showed alopecia and pustules on his head (Figure 2A), greasy light-brown scales on his face (Figure 2B), "sheet-like" scales on his hand (Figure 2C), pre-thoracic skin (Figure 2D) and "bark-like" thickened scales with deep fissures between scales on the abdominal area (Figure 2E) and on his thigh (Figure 2F).
Histology (hematoxylin and eosin, x100 magnification) shows severe lamellar hyperkeratosis, mild hypertrophy of the spinous layer, and vacuolated degeneration of some spinous cells. In the stratum corneum, there were some cross-sections of hair shaft (arrows). One of those structures was highlighted and magnified in the upper right corner (red box).
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Histopathology (Figure 3) showed severe lamellar hyperkeratosis, mild hypertrophy of the spinous layer, and vacuolated degeneration of some spinous cells. In the stratum corneum, there were some cross-sections of hair shaft (arrows in Figure 3). One of those structures was highlighted and magnified in the upper right corner (red box in Figure 3).
TGM1 mutations. (A) and (B) TGM1 mutations in the proband. (C) TGM1 structure. TGM1 has 15 exons and the translation start is located in the second exon. (D) Protein domains of TGM1. It consists of five chains (817 amino acids): anchoring domain (1-92), beta-sandwich domain (94-246), catalytic domain (247-572), beta-barrel 1 domain (573-688), and beta-barrel-2 domain (689-817).
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The other was c.607C>T (p.Gln203*) (NM_000359.3; exon 4) on Chr14:24258646 (NC_000014.9) (Figure 4).