Absent transglutaminase TGK expression in two of three patients with lamellar ichthyosis

Collodion baby and lamellar ichthyosis

“…Chemically, it is produced by the synthesis of loricrin, involncrin, SPRR2 and others, and these are formed with the involvement of transglutaminase of keratinocyte (TGK). In some cases of lamellar ichthyosis, TGK was absent (18,19), whereas in others, it was present (20). The gene of TGK is located in chromosome 14qll and found mutated in some cases (21)(22)(23)(24)(25).…”

“…The gene of TGK is located in chromosome 14qll and found mutated in some cases (21)(22)(23)(24)(25). Erom the view point of marginal band-related TGK, socalled lamellar ichthyosis seems to be an ill-defined entity and currently is believed to be heterogeneous (19,26). Reflecting this heterogeneity, Niemi et al (9) found that the marginal band may or may not be present in lamellar ichthyosis.…”

Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation

“…In the OMIM catalog SHCB is listed jointly as lamellar exfoliation of newborn or desquamation of newborn together with ichthyosis congenita and lamellar ichthyosis (#242300). In 30%^40% of cases with autosomal recessive congenital ichthyosis, mutations in theTGM1 gene have been found (Huber et al, 1995;1997;Lavrijsen and Maruyama, 1995;Parmentier et al, 1995;Russell et al, 1995;Laiho et al, 1997;Hennies et al, 1998a;Raghunath et al, 1998;Tok et al, 1999;Akiyama et al, 2001;Cserhalmi-Friedman et al, 2001). The genetic basis of SHCB is not known.…”

Three Novel Point Mutations in the Keratinocyte Transglutaminase (TGK) Gene in Lamellar Ichthyosis: Significance for Mutant Transcript Level, TGK Immunodetection and Activity

“…The final stages of epidermal differentiation implicate the formation of the comified cell envelope, a specialized structure in the cell periphery of terminally differentiated kératinocytes which assumes protective functions [3], Cell envelope formation develops at the cytoplasmic side of the plasma membrane of the stratum granulosum cells and is completed in comeocytes of the stratum comeum. This process involves the sequential deposition of struc tural precursor proteins such as involucrin, small prolinerich proteins and loricrin which are covalently crosslinked by transglutaminase 1 (TGM 1, also termed kérati nocyte transglutaminase, or TGK) and transglutaminase 3 (TGM3) [3][4][5][6][7], Immunohistologic studies by Hohl et al [8] and Lavrijsen et al [9] have reported absent or diminished mem brane-bound and cytoplasmic expression of kératinocyte transglutaminase (TGK) in skin of LI patients, as detected by the anti-TGK antibody B.C1. These results raised the possibility that the pathophysiology of LI may involve deficient expression of TGK resulting in impaired crosslinkage and deposition of precursor stmctural proteins of the cell envelope.…”