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

Lavrijsen, A.P.M.

doi:10.1001/archderm.131.3.363

Cited by 13 publications

(4 citation statements)

References 3 publications

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“…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).…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Discussionmentioning

confidence: 99%

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Collodion baby and lamellar ichthyosis

Sandler

Hashimoto

1998

J Cutan Pathol

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It is important to differentiate the collodion baby from harlequin ichthyosis as the latter rarely survives past the first few days of life. Occasionally, babies share features of both disorders and defy a clinical diagnosis. We recently encountered such a baby who initially presented with harlequin-like features, but evolved into lamellar ichthyosis once the keratin cast was shed. Since the routine histology of all these ichthyoses is similar, we used electron microscopy to study serial biopsy specimens from the affected infant on days 7, 14, and 150, and compared them to our own other cases of harlequin ichthyosis and lamellar ichthyosis. Electron microscopic studies of our case revealed that the marginal band of cornified cells of the stratum corneum was absent when the baby exhibited collodion/harlequin ichthyosis features. Another biopsy taken when the clinical picture evolved into lamellar-like ichthyosis, showed a well-formed marginal band in the cornified cells. In harlequin ichthyosis, the marginal band is present at birth. It is suggested that electron microscopy can differentiate severe collodion baby from harlequin ichthyosis at birth using the absence of the marginal band. Previously reported features of harlequin ichthyosis, such as the presence of giant mitochondria and an abnormal formation of the marginal band in luminal villi of acrosyringeal eccrine duct, were absent in our case.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Collodion baby and lamellar ichthyosis

Sandler

Hashimoto

1998

J Cutan Pathol

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“…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.…”

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confidence: 99%

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

Raghunath

Hennies

Ahvazi

et al. 2003

Journal of Investigative Dermatology

105

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Spontaneous healing with no or only very mild ichthyosis distinguishes the "self-healing collodion baby" from other congenital ichthyoses. In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. Molecular modeling and biochemical assays of mutant proteins under elevated hydrostatic pressure suggest significantly reduced activity in G278R and a chelation of water molecules in D490G that locks the mutated enzyme in an inactive trans conformation in utero. After birth these water molecules are removed and the enzyme is predicted to isomerize back to a partially active cis form, explaining the dramatic improvement of this skin condition.

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“…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.…”

Section: Introductionmentioning

confidence: 99%