Dermatan 4‐<i>O</i>‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

Mochida, Kosuke; Amano, Masahiro; Miyake, Noriko; Matsumoto, Naomichi; Hatamochi, Atsushi; Kosho, Tomoki

doi:10.1111/1346-8138.13273

Cited by 14 publications

(10 citation statements)

References 5 publications

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“…The most frequent of all vascular complications was the formation of hematomas (53/100, 53%), either spontaneously (10/53, 19%) or after minor trauma (32/53, 60%), such as a minor fall. They were reported primarily in mcEDS patients (25/46, 54%) ( DSE : 2/3, 67% CHST14 : 23/43, 53%) 6 , 115 , 116 , 117 , 118 , 119 , 120 , 121 , 122 and clEDS patients (10/19, 53%), 53 , 55 , 56 , 57 and, to a lesser extent, in patients with dEDS (2/15, 13%) 72 , 74 and cEDS- COL5A1 (3/110, 3%). 34 , 38 Most hematomas were subcutaneous (41/53, 77%), but epidural, spinal, scalp, and stomach wall hematomas were reported as well.…”

Section: Resultsmentioning

confidence: 99%

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt

Damme

Malfait

2018

Genetics in Medicine

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PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among “nonvascular” EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications.ResultsA total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS.ConclusionPotentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.

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Section: Resultsmentioning

confidence: 99%

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt

Damme

Malfait

2018

Genetics in Medicine

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“…The ages of patients with CHST14 mutations at the latest publication ranged from 0 day to 59 years. [Dündar et al, ; Sonoda and Kouno, ; Dündar et al, ; Janecke et al, ; Yasui et al, ; Kosho et al, ; Kosho et al, ; Malfait et al, ; Shimizu et al, ; Mendoza‐Londono et al, ; Winters et al, ; Voermans et al, ; Syx et al, ; Janecke et al, ; Mochida et al, ].…”

Section: Musculocontractural Eds (Mceds)mentioning

confidence: 99%

The Ehlers–Danlos syndromes, rare types

Brady¹,

Demirdas²,

Fournel‐Gigleux³

et al. 2017

American J of Med Genetics Pt C

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188

288

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The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen‐modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS‐variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.

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“…All these conditions are now concluded to be a single clinical entity, with the proposed names "D4ST1-deficient EDS (DDEDS)" [16], "EDS caused by a CHST14/D4ST1 deficiency" [11], or "EDS, musculocontractural type 1 (EDSMC1) (MIM#601776) in order to distinguish a subsequently identified form of EDS caused by biallelic loss-of-function mutations in DSE, which is registered as "EDS, musculocontractural type 2 (EDSMC2)" (#615539) [17,18]. To date, 40 patients from 27 families have been reported to have a CHST14/D4ST1 deficiency, manifesting multiple congenital malformations (craniofacial characteristics, multiple congenital contractures, and visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation) [10][11][12][13][14][15][19][20][21][22][23][24][25][26].…”

Section: Introductionmentioning

confidence: 99%

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

Mizumoto

Kosho

Hatamochi

et al. 2017

Clinical Biochemistry

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This is the first study to perform a urinary disaccharide compositional analysis of chondroitin sulfate (CS)/DS chains in patients with EDS caused by a CHST14/D4ST1 deficiency, and demonstrated the absence of DS chains. This result suggests systemic DS depletion in this disorder, and also proposes the usefulness of a urinary disaccharide compositional analysis of CS/DS chains as a non-invasive screening method for this disorder.

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Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

Cited by 14 publications

References 5 publications

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

The Ehlers–Danlos syndromes, rare types

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

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