• Korean Journal of Veterinary Research
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• v.56 no.1
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• pp.53-55
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• 2016

A 1-year-old Korean domestic short-haired cat presented with skin hyperextensibility and a severely macerated wound on the skin of the dorsal part of the neck. Diagnostic studies including histopathology and skin extensibility index revealed congenital cutaneous asthenia (Ehlers-Danlos syndrome). In this cat, the skin wounds and defects were successfully managed with standard wound management and cosmetic surgery. Although skin hyperextensibility is persistent, the cat has lived well without other complications to date. To the best of our knowledge, this is the first report of cutaneous asthenia in a cat in Korea.

• Journal of Veterinary Clinics
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• v.41 no.2
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• pp.101-105
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• 2024

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder in dogs and cats and has been mostly reported in purebred cats. In this study, we report a case of a 1-year-old castrated male Korean shorthair cat, who presented with multiple small skin tears and bruises distributed over the entire trunk area. The cat's skin was hyperextensible and easily torn with gentle touch. The skin extensibility index of the cat was 25%, indicating the possibility of EDS. The cat exhibited no signs of pruritus or inflammation, and no underlying disease was found. However, radiography revealed hip joint subluxation and arthritis. Following this, biopsy of the lacerated skin was performed. Histopathological examination of the skin revealed that in the dermis adjacent to the lesions, the collagen fibers were irregular in size and width, with a slightly thinner epidermis, and increased interfibrillar spaces containing low numbers of scattered well-differentiated fibroblasts and mast cells. Histopathological examination of the skin confirmed EDS. The symptoms observed in the cat, including skin hyperextensibility, multiple bruising, hip joint subluxation, and arthritis, corresponded to the classical subtype of EDS in humans. Thus, this study is a rare report of a classical EDS case in a Korean shorthair cat. This study suggests that skin extensibility index and biopsy are useful diagnostic procedures for confirming EDS in animals until a more definitive genetic test is established.

• Annals of Clinical Neurophysiology
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• v.12 no.1
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• pp.27-31
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• 2010

Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.43-47
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• 2019

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Archives of Craniofacial Surgery
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• v.20 no.2
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• pp.130-133
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• 2019

Ehlers-Danlos syndrome (EDS) is an inherited disorder of collagen biosynthesis and structure, characterized by skin hyperextensibility, joint hypermobility, aberrant scars, and tissue friability. Besides the skin, skeleton (joint) and vessels, other organs such as the eyes and the intestine can be affected in this syndrome. Accordingly, interdisciplinary cooperation is necessary for a successful treatment. Three basic surgical problems are arising due to an EDS: decreased the strength of the tissue causes making the wound dehiscence, increased bleeding tendency due to the blood vessel fragility, and delayed wound healing period. Surgery patients with an EDS require an experienced surgeon in treating EDS patients; the treatment process requires careful tissue handling and a long postoperative care. A surgeon should also recognize whether the patient shows a resistance to local anesthetics and a high risk of hematoma formation. This report describes a patient with a wide open wound on the foot dorsum and delayed wound healing after the primary approximation of the wound margins.