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Ehlers-Danlos syndrome is an umbrella term for a clinically and genetically heterogeneous group of hereditary soft connective tissue disorders mainly featuring abnormal cutaneous texture (doughy/velvety, soft, thin, and/or variably hyperextensible skin), easy bruising, and joint hypermobility. Currently, musculoskeletal manifestations related to joint hypermobility are perceived as the most prevalent determinants of the quality of life of affected individuals. The 2017 International Classification of Ehlers-Danlos syndromes and related disorders identifies 13 clinical types due to deleterious variants in 19 different genes. Recent publications point out the possibility of a wider spectrum of conditions that may be considered members of the Ehlers-Danlos syndrome community. Most Ehlers-Danlos syndromes are due to inherited abnormalities affecting the biogenesis of fibrillar collagens and other components of the extracellular matrix. The introduction of next-generation sequencing technologies in the diagnostic setting fastened patients' classification and improved our knowledge on the phenotypic variability of many Ehlers-Danlos syndromes. This is impacting significantly patients' management and family counseling. At the same time, most individuals presenting with joint hypermobility and associated musculoskeletal manifestations still remain without a firm diagnosis, due to a too vague clinical presentation and/or the lack of an identifiable molecular biomarker. These individuals are currently defined with the term "hypermobility spectrum disorders". Hence, in parallel with a continuous update of the International Classification of Ehlers-Danlos syndromes, the scientific community is investing efforts in offering a more efficient framework for classifying and, hopefully, managing individuals with joint hypermobility.

Hereditary equine regional derma asthenia (HERDA), an autosomal-recessive trait, found in Quarter Horses, causes abnormal collagen structure. Owing to current breeding practices, 3.5% of registered quarter horses and 28.3% of the cow horse population are heterozygote carriers. Research demonstrated homozygote horses develop hyperextensible skin susceptible to injury and other abnormal tissues containing high fibrillar collagen content. No research exists determining the effects of the disease in heterozygote carriers. Currently, 30% of cutting sires are HERDA carriers, potentially increasing the number of heterozygous individuals when bred. The objective of the present study is to gauge knowledge of the disease, perception, and concerns of the diseases' impact on horse performance and perceived value and breeding decisions. A Qualtrics link was distributed to horse owners via extension specialists and was available online on equine-related Facebook pages. Overall group means and standard deviations for constructs were reported. A total of 228 responses were collected. Most participants were involved in reining and cutting and 34.6% reported they were very familiar with the disease. Participants (78.5%) reported that HERDA status affects value of a breeding animal. Owners of HERDA carriers (62.5%) noticed no difference in performance or injury compared with noncarriers. Respondents (95.2%) believed that all breeding animals should have HERDA status available. Respondents are attempting to make informed breeding decisions based on HERDA status by pairing carriers with noncarriers; however, it remains to be seen if that is adequate to control the disease. Education regarding breeding practices and its impact on the genetic pool are warranted.

Hereditary equine dermal asthenia (HERDA) is an autosomal recessive skin disease that affects predominantly Quarter Horses and related breeds. Typical symptoms are easy bruising and hyperextensible skin on the back. The prognosis is guarded, as affected horses cannot be ridden normally and are often euthanised. In the Quarter Horse, HERDA is associated with a mutation in cyclophilin B (PPIB), an enzyme involved in triple helix formation of collagen. Here we describe the case of a Swiss Warmblood filly with symptoms of HERDA without PPIB-mutation and in which we also could exclude Ehlers-Danlos syndrome Type IV, VI, VIIA, VIIB and VIIC (dermatosparaxis type) as etiological diseases.

A 7-month-old male cross breed dog was presented with hyperextensible skin and atrophic scarring. A diagnosis of Ehlers-Danlos syndrome was made based on clinical signs, histopathology and electron microscopy. Two weeks after presentation, the dog died suddenly. Post-mortem examination revealed haemothorax and rupture of the left subclavian artery. Histological findings, including Goldner's modified Masson's trichrome staining and transmission electron microscopy of the subclavian artery, revealed abnormalities in the structure and arrangement of collagen fibrils, suggesting that the defective collagen formation extended to the vasculature. To the authors' knowledge, this is the first report of Ehlers-Danlos syndrome with vascular involvement in animals.

Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000. Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual. We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up.

Elastoderma is an uncommon acquired skin disorder, which is characterized by increased laxity and a loss of recoil of affected skin. Unlike other elastolytic dis-orders that produce increased skin laxity, elastoderma is accompanied by an accumulation of elastin without calcification. We describe here a case of elastoderma, which, to our knowledge, is the fourth case described in the literature.CASE REPORT

HEREDITARY equine regional dermal asthenia (herda) is a dermatopathy of horses, clinically characterised by hyperextensible skin. It was first documented by [Lerner and McCracken (1978)][1] and was subsequently determined to be caused by a defect of dermal collagen fibrils and their arrangement ([

Background: The Ehlers-Danlos syndrome encompasses a group of hereditary disorders of the connective tissue, characterized by soft, hyperextensible skin, joint hypermobility and differential fragility of the vessels and tissues with variable severity.The main forms are classical, hypermobile, vascular, kyphoscoliotic A/B, arthrochalasis A/B and dermatosparaxis types. Patients and Methods: We our experiences in diagnosis and classification of Ehlers-Danlos-syndrome, especially with the combination of clinical and morphological criteria, at the dermatological department of the University of Heidelberg with more than 600 patients between 1984 and 2004. Results: We classified those types of EDS which are characterized by regular and characteristic ultrastructural changes in the components of the dermis, especially on the collagen (especially classical, hypermobile and vascular types as well as arthrochalasis and dermatosparaxis types).The combination of clinical and morphologic features facilitates the choice of molecular genetic candidate genes for investigation. Conclusions: Besides the skin, the skeleton and the vessels, many organ systems - for example the eyes and intestine - can be affected in Ehlers-Danlos syndrome. Accordingly, interdisciplinary cooperation (pediatrics, surgery, orthopedics, rheumatology, neurology, genetics) is necessary. As the connective tissue of the skin is accessible for biopsy and diagnostic investigation, dermatologists should be trained in the diagnostic approach and classification of this syndrome.

Ehler-Danlos syndrome (EDS) is heritable connective tissue disorders with varied manifestations whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility. Os odontoideum describes a condition in which the dens is separated from the axis body. The exact frequency is unknown. Known cases are either incidentally detected or are diagnosed when patients become symptomatic. Cervical dislocation has been described with type VI lesions but no association with Os odontoideum was found in the English literature. We describe a case of 5-year-old boy a case of Ehler Danlos syndrome presenting with features of cervical dislocation due to Os odontoideum.

A case of Ehlers-Danlos Syndrome in a 19 years old male involving cutaneous and skeletal systems is reported. A clinical scoring system to diagnose such cases is highlighted.

Two sisters nine and 12 years of age presented with a similar clinical picture consisting of severe scoliosis, recurrent joint dislocation and hyperextensible skin and joints. Amino acid a...

Ehlers–Danlos syndrome is a rare inherited illness, which includes an autosomal dominant and also a recessive X–linked variant. Its main clinical characteristic is a generalised connective tissue involving collagen and elastin, causing fragile and hyperextensible skin, loose jointedness and bruising. Many clinical subtypes are described, each of a different severity degree pattern. The correlation of this syndrome and headache disorders is rare. In this paper we describe the case of a young woman with Type II (less severe) Ehlers–Danlos Syndrome and headache.