Specific Diseases of Large Animals and Man
Rebecca A. Krimins in Learning from Disease in Pets, 2020
There are a number of connective tissue disorders seen in large animal species that have similarity with human diseases. Ehlers-Danlos syndromes (EDS) are a group of diseases which display soft connective tissue fragility clinically affecting skin, ligaments, joints, organs, and blood vessels in people. There are a number of subtypes described within EDS and these are based on the phenotype, inheritance, and the underlying molecular or biochemical defect (Malfait and De Paepe 2014). Heritable equine regional dermal asthenia (HERDA) is a disorder of horses in which loose and fragile skin are the hallmark clinical signs (Brinkman et al. 2017; Halper 2014). This is an autosomal recessive disorder that has been well described in Quarter Horse breeds, with some estimates of an increasing incidence of heterozygotes in certain sub-populations (Rashmir-Raven and Spier 2015). The disease is due to a mutation in the gene that encodes cyclophilin B, which acts in the processing of procollagen and is required to form the triple helix of fibrillar collagen (Brinkman et al. 2017). Cyclophilin B also has functions of trafficking, processing, and chain association during collagen synthesis. The HERDA phenotype is most closely aligned with the EDS subtype VI, known as the kyphoscoliotic form (Brinkman et al. 2017; Rashmir-Raven and Spier 2015). Another subtype of EDS is type VIIC, dermatosparaxis, which is characterized by fragile skin. This condition has been described in sheep and cattle and is due to mutations of the ADAMTS2 gene or of the procollagen I N-proteinase gene in cattle (Halper 2014).
Disorders of bone and connective tissue
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
The Ehlers-Danlos group of disorders is extremely heterogeneous. The main features are hypermobility of skin and joints, skin fragility and bruising, and rarer vascular, visceral and ocular complications. It is important not to confuse the group with the much more common and essentially harmless benign familial joint hypermobility (also often dominantly inherited); it is sometimes associated with pain and limitation of mobility out of proportion to the associated physical signs. The classification of the Ehlers-Danlos syndromes has recently been simplified (Table 16.4). Autosomal dominant inheritance is the most common. Pregnancy may be dangerous in the severe forms. The vascular (type 4) form, although rare, is particularly important to recognise on account of the risks of bowel and arterial rupture and aneurysm formation. It results from defects in type III collagen. Other genetic abnormalities (including other collagen genes) have been identified in different forms.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Hearing loss is common and due to malformations of the auditory ossicles. Oral problems include malocclusion, periodontitis, gingival hyperplasia, hypodontia. Stature is generally within the normal range. Intellect is usually normal although neuro developmental delay has been reported in a minority of cases. Differential diagnosis:The so-called “recessive Larsen syndrome”, also including the Reunion Island form of Larsen syndrome, is radiographically different. Spondyloepiphyseal dysplasia (SED), Omani type, or humerospinal dysostosis, can be similar to Larsen syndrome at birth, but later develops progressive spondylodysplasia, epiphyseal dysplasia and rhizomelic limb shortening. It is caused by mutations in CHST3; omodysplasia (p. 238). Some overlap with disorders associated with mutations in FLNA in particular atelosteogenesis type 1/3 (pp. 142–50). Other disorders with multiple congenital dislocations: Desbuquois dysplasia (p. 269), diastrophic dysplasia (p. 112), pseudodiastrophic dysplasia shows dislocations particularly at the elbows and interphalangeal joints, large head, rhizomelic shortening of the limbs, cleft palate and different radiological features. Ehlers-Danlos syndromes comprise a heterogeneous group of connective tissue disorders also characterised by skin hyperextensibility, abnormal wound healing, hypotonia, easy bruising and vascular complications including spontaneous rupture of large arteries. Fetal akinesia deformation sequence consists of a combination of anomalies secondary to poor fetal movements, such as multiple joint contractures, facial anomalies, pulmonary hypoplasia and polyhydramnios.
HEMARTHROSIS DUE TO A RARE CAUSE OF HEMORRHAGIC DIATHESIS: Ehlers-Danlos Syndrome
Published in Pediatric Hematology and Oncology, 2008
Paola Giordano, Giovanni Carlo Del Vecchio, Rosanna Scaraggi, Fabio Cardinale, Biagio Moretti, Giuseppe Lassandro, Domenico De Mattia
The authors report a case of hemarthrosis complicated by severe anemia related to a congenital connective tissue disease: Ehlers-Danlos syndrome. A boy fell down and suffered tumefaction of both knees with bilateral rupture of the rotula tendon. He underwent surgical reinsertion of each tendon on the rotula. He later showed an unexpected ongoing hematic effusion, with severe anemia. He was screened for coagulation disorders with no results. On taking a more detailed history and investigating the patient's phenotypical features, the authors diagnosed Ehlers-Danlos syndrome, hypermobile variant. The hemarthrosis and anemia were thus concluded to be consequences of excessive tissue fragility due to a congenital connective tissue disease.
The lived experience of Joint Hypermobility and Ehlers-Danlos Syndromes: a systematic review and thematic synthesis
Published in Physical Therapy Reviews, 2019
Sarah E. Bennett, Nicola Walsh, Tim Moss, Shea Palmer
Background: Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) are heritable connective tissue disorders characterised by joint instability, pain, anxiety, depression and poor quality of life. However, peoples’ lived experiences are not well understood. Objective: To understand the lived experiences of people with JHS and EDS. Methods: A systematic review was conducted using PRISMA guidelines. Critical appraisal and a thematic synthesis of participants’ lived experiences were conducted. Eight online databases were searched from 1990 to February 2018: AMED, CINAHL, EMBASE, MEDLINE, PubMed, PsychINFO, SPORTDiscus and the Cochrane Library. Eligibility criteria were: (1) People with either JHS or EDS, clearly distinguished from generalised joint laxity; (2) Qualitative studies, or mixed qualitative and quantitative studies with qualitative data reported independently and (3) Published in English. Results: A total of nine studies were included. Five main themes were identified: (1) Lack of professional understanding; (2) Restricted life; (3) Social stigma; (4) Trying to ‘keep up’ and (5) Gaining control. The implications of these results are explored. Conclusions: Further qualitative research is required to examine the impact of JHS/EDS on a wider range of participants and in greater depth.
Otosclerosis associated with Ehlers-Danlos syndrome: report of a case
Published in Acta Oto-Laryngologica, 2007
Chie Miyajima, Shin-Ichi Ishimoto, Tatsuya Yamasoba
Hearing loss occurs rarely in Ehlers-Danlos syndrome (EDS). We report a case of a 24-year-old woman with EDS who had conductive deafness due to otosclerosis and scar tissues around the malleus and incus. The scar was considered to develop by inflammatory response specific to EDS that had been induced by otitis media with effusion. Following stapes mobilization and removal of the scar tissues, her hearing was improved for several months but showed deterioration thereafter, probably due to recurrence of ossicular fixation. The tendency toward scar formation, infection, and inflammatory response, especially to foreign bodies, in EDS needs to be kept in mind to determine treatment of choice in patients with EDS and conductive hearing loss.
Related Knowledge Centers
- Blood Coagulation
- Platelets
- Vascular Endothelium
- Hemostatic Disorders
- Genetic Skin Diseases
- Collagen Type III
- Skin Abnormalities