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      Life-threatening large subcutaneous hematoma after minor head trauma: A young female patient who was suspected of having new Ehlers–Danlos syndrome

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          Abstract

          Life-threatening large subcutaneous hematomas after minor injury are rare clinical states for young people; however these patients may have hidden diseases, which can cause a tendency to bleed. A 31-year-old woman visited our hospital after minor injury. The first computed tomography (CT) scan revealed a small subcutaneous hematoma, but her head bulged and the second CT scan revealed her subcutaneous hematoma had become enlarged. Two surgeries were needed to stop the bleeding and. Though she received intensive care, she died 48 days after onset. The new Ehlers–Danlos syndrome (EDS), known as EDS Kosho type (EDSKT), is a connective tissue disease, in which patients often experience large subcutaneous hematomas. We suspected our patient had EDSKT because her clinical features were compatible with this syndrome. Our findings support the notion that large subcutaneous hematomas in young patients with connective tissue disease can be fatal; a careful follow-up is required.

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          Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

          M. Pepin, U Schwarze, A Superti-Furga … (2000)
          Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented. We reviewed the clinical and family histories of and medical and surgical complications in 220 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their affected relatives. We identified the underlying COL3A1 mutation in 135 index patients. Complications were rare in childhood; 25 percent of the index patients had a first complication by the age of 20 years, and more than 80 percent had had at least one complication by the age of 40. The calculated median survival of the entire cohort was 48 years. Most deaths resulted from arterial rupture. Bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but rarely led to death. Complications of pregnancy led to death in 12 of the 81 women who became pregnant. The types of complications were not associated with specific mutations in COL3A1. Although most affected patients survive the first and second major complications, Ehlers-Danlos syndrome type IV results in premature death. The diagnosis should be considered in young people who come to medical attention because of uterine rupture during pregnancy or arterial or visceral rupture.
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            Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

            Rie Kawamura, Noriko Miyake, Atsushi Hatamochi … (2010)
            Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder involving skin and joint laxity and tissue fragility. A new type of EDS, similar to kyphoscoliosis type but without lysyl hydroxylase deficiency, has been investigated. We have identified a homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases. CHST14 encodes dermatan 4-O-sulfotransferase 1 (D4ST1), which transfers active sulfate from 3'-phosphoadenosine 5'-phosphosulfate to position 4 of the N-acetyl-D-galactosamine (GalNAc) residues of dermatan sulfate (DS). Transfection experiments of mutants and enzyme assays using fibroblast lysates of patients showed the loss of D4ST1 activity. CHST14 mutations altered the glycosaminoglycan (GAG) components in patients' fibroblasts. Interestingly, DS of decorin proteoglycan, a key regulator of collagen fibril assembly, was completely lost and replaced by chondroitin sulfate (CS) in the patients' fibroblasts, leading to decreased flexibility of GAG chains. The loss of the decorin DS proteoglycan due to CHST14 mutations may preclude proper collagen bundle formation or maintenance of collagen bundles while the sizes and shapes of collagen fibrils are unchanged as observed in the patients' dermal tissues. These findings indicate the important role of decorin DS in the extracellular matrix and a novel pathomechanism in EDS.
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              A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

              Tomoki Kosho, Noriko Miyake, Atsushi Hatamochi … (2010)
              We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro-retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria-like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Asian J Neurosurg
                Journal ID (iso-abbrev): Asian J Neurosurg
                Journal ID (publisher-id): AJNS
                Title: Asian Journal of Neurosurgery
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 1793-5482
                ISSN (Electronic): 2248-9614
                Publication date (Print): Apr-Jun 2015
                Volume: 10
                Issue: 2
                Pages: 148-150
                Affiliations
                [1]Department of Neurosurgery, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan
                [1 ]Department of Neurosurgery, Faculty of Medicine, Showa University, Tokyo, Japan
                Author notes
                Address for correspondence: Dr. Takahiro Ota, Department of Neurosurgery, Tokyo Metropolitan Tama Medical Center, 2-8-29 Musashidai, Fuchu-shi, Tokyo 183-8524, Japan. E-mail: toota-tky@ 123456umin.org
                Article
                Publisher ID: AJNS-10-148
                DOI: 10.4103/1793-5482.154985
                PMC ID: 4421959
                SO-VID: 3765533e-e3a0-43a4-accb-12234561e29c
                Copyright © Copyright: © Asian Journal of Neurosurgery
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Surgery
                Keywords: ehlers-danlos syndrome kosho type,large subcutaneous hematoma,minor head injury,tendency of bleeding
                Data availability:
                ScienceOpen disciplines: Surgery
                Keywords: ehlers-danlos syndrome kosho type, large subcutaneous hematoma, minor head injury, tendency of bleeding

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