A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency: Implications for early ageing

Michihiro Kono, Yoshie Hasegawa-Murakami, Kazumitsu Sugiura, Masashi Ono, Kazuhiro Toriyama, Noriko Miyake, Atsushi Hatamochi, Yuzuru Kamei, Tomoki Kosho, Masashi Akiyama

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

Original languageEnglish
Pages (from-to)830-831
Number of pages2
JournalActa Dermato-Venereologica
Volume96
Issue number6
DOIs
Publication statusPublished - 09-2016

Fingerprint

Ehlers-Danlos Syndrome
Craniofacial Abnormalities
Decorin
Skin Manifestations
Joint Instability
Dermatan Sulfate
Skin
Loss of Heterozygosity
Contracture
Glycosaminoglycans
Hematoma
Connective Tissue
Collagen
Mutation
Genes
dermatan-4-sulfotransferase-1
Ehlers-Danlos syndrome type 1
carbohydrate sulfotransferases
Ehlers-Danlos syndrome type 2

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Kono, Michihiro ; Hasegawa-Murakami, Yoshie ; Sugiura, Kazumitsu ; Ono, Masashi ; Toriyama, Kazuhiro ; Miyake, Noriko ; Hatamochi, Atsushi ; Kamei, Yuzuru ; Kosho, Tomoki ; Akiyama, Masashi. / A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency : Implications for early ageing. In: Acta Dermato-Venereologica. 2016 ; Vol. 96, No. 6. pp. 830-831.
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abstract = "Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.",
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Kono, M, Hasegawa-Murakami, Y, Sugiura, K, Ono, M, Toriyama, K, Miyake, N, Hatamochi, A, Kamei, Y, Kosho, T & Akiyama, M 2016, 'A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency: Implications for early ageing', Acta Dermato-Venereologica, vol. 96, no. 6, pp. 830-831. https://doi.org/10.2340/00015555-2390

A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency : Implications for early ageing. / Kono, Michihiro; Hasegawa-Murakami, Yoshie; Sugiura, Kazumitsu; Ono, Masashi; Toriyama, Kazuhiro; Miyake, Noriko; Hatamochi, Atsushi; Kamei, Yuzuru; Kosho, Tomoki; Akiyama, Masashi.

In: Acta Dermato-Venereologica, Vol. 96, No. 6, 09.2016, p. 830-831.

Research output: Contribution to journalArticle

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T1 - A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency

T2 - Implications for early ageing

AU - Kono, Michihiro

AU - Hasegawa-Murakami, Yoshie

AU - Sugiura, Kazumitsu

AU - Ono, Masashi

AU - Toriyama, Kazuhiro

AU - Miyake, Noriko

AU - Hatamochi, Atsushi

AU - Kamei, Yuzuru

AU - Kosho, Tomoki

AU - Akiyama, Masashi

PY - 2016/9

Y1 - 2016/9

N2 - Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

AB - Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

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