Lamellar Ichthyosis

Lentz, Conrad L.

doi:10.1001/archderm.1968.01610070009002

Cited by 21 publications

(6 citation statements)

References 17 publications

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“…Although the nature of the collodion-like membrane in LI has not been fully delineated, the membrane is composed of thickened stratum corneum in some cases (37,46). Ultrastructurally, a sheet of cells with characteristics of periderm was seen on the surface of the neonatal stratum corneum in TGase 1 Ϫ/Ϫ mice (data not shown).…”

Section: Discussionmentioning

confidence: 96%

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Matsuki

Yamashita

Ishida‐Yamamoto

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

269

194

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The stratum corneum of the skin serves as an effective barrier for maintenance of the internal milieu against the external environment. At the cell periphery of the stratum corneum is the cell envelope, a highly insoluble membranous structure composed of precursor proteins crosslinked by -(␥-glutamyl)lysine bonds. Transglutaminase 1 (TGase 1; keratinocyte TGase), a membrane-bound isozyme of the TGase family, has been proposed to catalyze this process of assembly. Deficient cross-linking of the cell envelope in some patients with the autosomal recessive skin disorder lamellar ichthyosis (LI) and several mutations of the TGase 1 gene that have been identified in families with LI suggest the importance of this gene in production of the cell envelope. In this study, we generated mice lacking the TGase 1 gene, and we report that they have erythrodermic skin with abnormal keratinization. In their stratum corneum, degradation of nuclei and keratohyalin F-granules was incomplete and cell envelope assembly was defective. The skin barrier function of TGase 1-null mice was markedly impaired, and these mice died within 4-5 h after birth. These results clearly demonstrate that the TGase 1 gene is essential to the development and maturation of the stratum corneum and to adaptation to the environment after birth. Thus, these TGase 1 knockout mice may be a useful model for severe cases of LI.

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Section: Discussionmentioning

confidence: 96%

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Matsuki

Yamashita

Ishida‐Yamamoto

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

269

194

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“…Neonatal TGase 1 Ϫ/Ϫ mice were frequently encased with a transparent membrane, just like collodion babies with LI. Although the nature of the collodion-like membrane in LI has not been fully delineated, the membrane is composed of thickened stratum corneum in some cases (37,46). Ultrastructurally, a sheet of cells with characteristics of periderm was seen on the surface of the neonatal stratum corneum in TGase 1 Ϫ/Ϫ mice (data not shown).…”

Section: Discussionmentioning

confidence: 96%

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Matsuki

Ishida‐Yamamoto

Yamada

et al. 1998

Journal of Dermatological Science

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“…[36][37][38][39] It has been reported that scalp hairs are absent or sparse in LI patients, 40 who exhibit an absence of normal sweating. 41 The textbook explanation for these symptoms is that alopecia may result from scarring due to frequent episodes of sepsis, and that the absence of normal sweating is due to the obstruction of the sweat glands. 42 However, these phenomena may be directly caused by the dysfunction of TGase 1.…”

Section: Discussionmentioning

confidence: 99%

“…᭧ 1998 British Association of Dermatologists, British Journal of Dermatology, 138,[37][38][39][40][41][42][43][44] …”

mentioning

confidence: 99%

Expression of transglutaminase 1 in human hair follicles, sebaceous glands and sweat glands

et al. 1998

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To explore the function of the enzyme transglutaminase 1 (TGase 1), its distribution was analysed by immunofluorescence microscopy, postembedding immunoelectron microscopy and in situ hybridization. TGase 1 was expressed in the outer root sheath (ORS) cells in the distal portion of the isthmus and infundibulum of human hair follicles. In the level of the proximal and middle portion of the isthmus, TGase 1 was observed in the keratinized area of the inner root sheath (IRS) and ORS cells. In the bulbar and suprabulbar portions, TGase 1 was present in the ORS and IRS cells. The cortex and medulla cells in these regions also contained TGase 1. A high level of fluorescence was observed at the cuticle of the cortex. Sebaceous and sweat gland cells contained abundant TGase 1. Possible functions of TGase 1 in these epidermal appendages are discussed.

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Lamellar Ichthyosis

Cited by 21 publications

References 17 publications

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Expression of transglutaminase 1 in human hair follicles, sebaceous glands and sweat glands

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