X-Linked Ichthyosis

Mesquita-Guimarães, J

doi:10.1159/000250264

Cited by 23 publications

(4 citation statements)

References 8 publications

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“…A similar finding was also observed in the U nnaT host type hereditary palm oplantar hyperkeratosis [14] and X-linked ichthyosis [19], and is thought to be related to retention hyperkeratosis. Although the reason why the horny cells in our case lack flattening is unknown, the prominent hyperkeratosis may be related to the presence of numerous desmosomal discs.…”

Section: Discussionsupporting

confidence: 82%

Hidrotic Ectodermal Dysplasia: A Clinical and Ultrastructural Observation

Ando

Tanaka²,

Horiguchi³

et al. 1988

Dermatology

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Hidrotic ectodermal dysplasia (HED) was observed in a 49-year-old Japanese man. His clinical signs included alopecia, dystrophic nails and palmoplantar keratoderma, but his teeth, facial appearance and sweating were normal. In his family, 9 members in 5 generations were affected, suggesting that the disorder has an autosomal dominant mode of inheritance. Biopsy specimens of the hyperkeratotic lesions of the palm and sole were studied with an electron microscope. The most prominent feature was the increase of the number of desmosomal discs in the thickened stratum corneum, suggesting that hyperkeratosis observed in HED is due to the delayed desquamation of the stratum corneum.

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Section: Discussionsupporting

confidence: 82%

Hidrotic Ectodermal Dysplasia: A Clinical and Ultrastructural Observation

Ando

Tanaka²,

Horiguchi³

et al. 1988

Dermatology

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“…There is some evidence that there is a direct relationship between steroid sulfatase deficiency, cholesterol sulphate accumulation, and disease expression . Ultrastructural studies of RXLI show a lack of desmosomal disk disappearance (AntonLamprecht, 1974), normal LBs, and LB secretion (Mesquita-Guimarã es, 1981).…”

Section: Human Disorders Of Cornificationmentioning

confidence: 99%

Morphology of lipid alterations in the epidermis: A review

Menon

Ghadially

1997

Microsc. Res. Tech.

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“…Further, the accumulated stratum corneum in recessive X-linked ichthyosis may be caused by the inhibition of trypsin-like and chymotrypsin-like proteases by excessive CS. This could account for the abnormal persistence of numerous desmosomal structures in the outermost layers of the stratum corneum in this disease (Anton-Lamprecht, 1974;Bazex et al, 1978;Mesquita-Guimaraes, 1981). Our results suggest a possible new role of CS as an inhibitor in desquamation.…”

Section: Discussionmentioning

confidence: 53%

“…Lundström and Egelrud also reported that chymotrypsin-like enzyme activity in the stratum corneum may play a role in the desquamation process (Lundström and Egelrud, 1991;Sondell et al, 1995). It was reported that numerous desmosomal structures remained in the outermost layers of the stratum corneum in recessive X-linked ichthyosis (Anton-lamprecht, 1974;Bazex et al, 1978;Mesquita-Guimaraes, 1981). Because CS inhibited the serine protease, acrosin, required for normal sperm capacitation (Burck and Zimmerman, 1980), in this study we examined the possibility that CS acts as a protease inhibitor, retarding desquamation of stratum corneum.…”

mentioning

confidence: 99%

Cholesterol Sulfate Inhibits Proteases that are Involved in Desquamation of Stratum Corneum

Sato

Denda

Nakanishi

et al. 1998

Journal of Investigative Dermatology

104

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We previously reported that desmosomes play a key role in the adhesion of corneocytes, and their digestion by two types of serine proteases leads to desquamation. Patients with recessive X-linked ichthyosis show hyperkeratosis attributable to desmosomes, associated with an increased content of cholesterol sulfate (CS) and an increased thickness of stratum corneum. In this study, therefore, we examined the possibility that CS provokes the abnormal desquamation, acting as a protease inhibitor. Scaling was induced on mice after topical application of chymostatin and leupeptin. Visible scale was also observed on mice after topical application of CS. We found that the stratum corneum thickness of CS-treated mice was increased in comparison with that of vehicle-treated mice. The thickness of the epidermis and the labeling index with proliferating cell nuclear antigen from CS-treated mice was almost the same as that from vehicle-treated mice. Moreover, in the stratum corneum of CS-treated mice, the content of desmosomes was higher than that in vehicle-treated mice. CS also inhibited the protease-induced cell dissociation of human stratum corneum sheets. In vitro, CS competitively inhibited both types of serine protease: the Ki for trypsin was 5.5 x 10(-6) M and that for chymotrypsin was 2.1 x 10(-6) M. These results indicate that CS retards desquamation by acting as a protease inhibitor. Thus, accumulation of stratum corneum in recessive X-linked ichthyosis may be a result of the inhibition by excessive CS of proteases involved in the dissolution of desmosomes, required for desquamation of the stratum corneum.

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X-Linked Ichthyosis

Cited by 23 publications

References 8 publications

Hidrotic Ectodermal Dysplasia: A Clinical and Ultrastructural Observation

Hidrotic Ectodermal Dysplasia: A Clinical and Ultrastructural Observation

Morphology of lipid alterations in the epidermis: A review

Cholesterol Sulfate Inhibits Proteases that are Involved in Desquamation of Stratum Corneum

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