Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

Last update 01 Nov 2024

Basic Info

Synonyms

DERMATOSPARAXIS, Dermatosparaxis, Dermatosparaxis EDS

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Introduction

A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility.

100 Clinical Results associated with Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

100 Translational Medicine associated with Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

0 Patents (Medical) associated with Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

116

Literatures (Medical) associated with Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

01 Aug 2024·Veterinary Dermatology

Ehlers–Danlos syndrome (cutaneous asthenia) in a Campbell's dwarf hamster (Phodopus campbelli)

Article

Author: Wilczyńska, Anna ; Szadkowski, Mateusz ; Śmiech, Anna ; Szczepanik, Marcin ; Ciszewska-Ceran, Jagoda ; Wilkołek, Piotr

AbstractA case of cutaneous asthenia in a Campbell's dwarf hamster is described. The animal was found to have hyperextensible skin, glaucoma and lens dislocation. Histopathological examination revealed an irregular, haphazard arrangement of collagen fibres in the dermis. The animal underwent surgical reduction of the skin folds which provided only temporary relief.

30 Aug 2023·G3: Genes, Genomes, Genetics

Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers–Danlos syndrome

Article

Author: Schäfer, Laura ; Leeb, Tosso ; Lühken, Gesine ; Thom, Nina ; Herden, Christiane ; Müller, Janina ; Schlohsarczyk, Elfi K ; Gärtner, Ulrich ; Simon, Rebecca ; Kiener, Sarah

AbstractWe investigated 4 European domestic shorthair kittens with skin lesions consistent with the dermatosparaxis type of the Ehlers–Danlos syndrome, a connective tissue disorder. The kittens were sired by the same tomcat but were born by 3 different mothers. The kittens had easily torn skin resulting in nonhealing skin wounds. Both clinically and histologically, the skin showed thin epidermis in addition to inflammatory changes. Changes in collagen fibers were visible in electron micrographs. The complete genome of an affected kitten was sequenced. A one base pair duplication leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). All 4 affected cats carried the frameshift duplication in a homozygous state. Genotypes at this variant showed perfect cosegregation with the autosomal recessive Ehlers–Danlos syndrome phenotype in the available family. The mutant allele did not occur in 48 unrelated control cats. ADAMTS2 loss-of-function variants cause autosomal recessive forms of Ehlers–Danlos syndrome in humans, mice, dogs, cattle, and sheep. The available evidence from our investigation together with the functional knowledge on ADAMTS2 in other species allows to classify the identified ADAMTS2 variant as pathogenic and most likely causative variant for the observed Ehlers–Danlos syndrome.

30 Jun 2023·Life (Basel, Switzerland)

Comparing Tear Film Viscosity between Sjögren and Non-Sjögren Dry Eye Disease.

Article

Author: Chen, Alexander ; Lai, Hung-Yin ; Fang, Po-Chiung ; Kuo, Ming-Tse ; Yu, Hun-Ju

This study aimed to compare tear film viscosity (TFV) in Sjögren and non-Sjögren dry eye diseases (DEDs). This was a cross-sectional observational study. A total of 68 DED patients were enrolled, including 32 patients with Sjögren syndrome (SS) and 36 without SS. TFV was assessed by a tear film analyzer and determined by the momentary moving speed (MMS; MMS (t) = α × t^-β, t = time (s)) with its power-law fitting-derived parameters (α and β). Among the four indices of TFV (MMS (0.1 s), MMS (2.0 s), α, and β), the SS-DED patients had significantly lower MMS (0.1 s) (p = 2.01 × 10^-5), α (p = 0.0375), and β (p = 0.0076). The SS-DED group also had significantly higher OSDI, lower central and nasal tear meniscus height (TMH), and higher OSS. MMS (0.1 s) was significantly correlated with nasal TMH and OSS (ρ = 0.2520, p = 0.0381 in nasal TMH; ρ = -0.3487, p = 0.0036 in OSS). Index β was not correlated with any non-TFV tests. In conclusion, MMS (0.1 s), α, and β are promising TFV indices in distinguishing SS-DED from non-SS-DED patients early. Among these TFV indices, lower MMS is the best alternative clue for detecting SS-DED.

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Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

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