The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa : article

Abstract

Dermatosparaxis is a heritable collagen dysplasia causing skin extensibility and fragility. In Belgian Blue cattle this mutation has been described as a 3 base pair (bp) change followed by a 17 bp deletion in the gene coding for procollagen 1 N-Proteinase (pNPI). An outbreak in a commercial Drakensberger herd in South Africa followed the introduction in late 2000 of a 3-year-old bull that developed skin lesions in 2001 and was culled in 2002. Some of his offspring were similarly affected, 1 of which was kept as a breeding bull after his sire's death. Two affected calves were referred to the Onderstepoort Veterinary Academic Hospital in October 2005. Detailed examination revealed only skin abnormalities limited to the lateral extremities of the thorax, abdomen and pelvis, viz. either acute lacerations of varying sizes, slow healing defects or thin scars in chronic cases. During a subsequent farm visit, 13 animals with similar wounds were seen in the herd of 146 animals. Electron microscopic examination of skin biopsies revealed haphazard arrangement and loose packing of dermal collagen fibrils within collagen fibres. The fibrils showed size variation and slightly irregular outlines on cross-section, consistent with mild dermatosparaxis. DNA samples of affected calves were analysed using primers designed to amplify the region of the pNPI gene that contained the mutation described in Belgian Blue cattle, but this mutation could not be demonstrated in any of the animals tested. It is concluded that a form of dermatosparaxis with a different gene mutation from that described in Belgian Blue cattle exists in Drakensberger cattle in South Africa. This possibly also explains the milder and more delayed clinical signs and the milder dermal collagen ultrastructural abnormalities

Dermatosparaxis in two Limousin calves

“…The clinical and pathological features described in these two calves are consistent with a diagnosis of dermatosparaxis [ 1 , 2 , 16 , 17 ] and is the first reported case of this disease in this breed. The skin fragility and hyperhidrosis, along with the marked fragmentation and depletion of superficial dermal collagen, are consistent with previous bovine cases [ 1 ].…”

“…An autosomal recessive mode of inheritance has been described in Belgian Blue cattle associated with a deletion or single nucleotide substitution that results in a premature stop codon in the “ADAM metalloproteinase with thrombospondin type 1 motif 2” (ADAMTS2) gene. This leads to abnormal processing of procollagen 1 [ 16 ]. The recessive nature of the gene was highlighted by the fact that the disease first occurred after inbreedings [ 2 ].…”

Descripción de un caso clínico compatible con Dermatosparaxis (síndrome de Elhers-Danlos tipo VIIc) en un ternero cruza Charolais con Hereford

“…Estos parches de fibras alteradas pueden verse acompañados por reacción inflamatoria, necrosis, fibrosis y formación de tejido de granulación (Argis y Myers, 2017; Mauldin y Peters-Kennedy, 2016). Estos hallazgos histopatológicos fueron confirmados parcialmente en nuestro estudio, debido a que en nuestro caso la evolución del cuadro fue de pocos días, pero se han reportado casos en los que las lesiones pueden ser incluso más sutiles, por lo que para arribar a un correcto diagnóstico, se recomienda que la biopsia cutánea incluya la dermis profunda, que es donde se identifican las lesiones más severas, o que se complemente el estudio histopatológico con un estudio ultraestructural de las fibras mediante microscopía electrónica de transmisión y de barrido (Argis y Myers, 2017;Carty et al, 2016;Holm et al, 2008;Noito y Okada, 2020), el cual no se desarrolló en nuestro reporte.…”

“…El síndrome de Ehlers Danlos tipo VIIc ha sido reportado en humanos (Smith et al, 1992), así como la dermatosparaxis en caninos (Gething, 1971;Paciello et al, 2003), felinos (Butler, 1975;Patterson y Minor, 1977), ovinos (Fjølstad y Helle, 1974), bovinos (Hanset y Ansay, 1967;O'Hara et al, 1970), equinos (Bridges y McMullan, 1984), visones (Hegreberg et al, 1970), conejos (Sinke et al, 1997) y búfalos (Láu, 1997), puede variar la severidad de los signos clínicos entre las especies (Van Leuven, 1987). En lo que refiere al ganado bovino, se han reportado casos en razas holando, hereford, belgian blue, charolais, simmental (Jayasekara et al, 1979), drakensberger (Holm et al, 2008) y limousin (Carty et al, 2016). En bovinos de la raza belgian blue se determinó que la enfermedad se debe a una deleción de diecisiete pares de bases (pb) en el inicio del exón 2 del gen ADAMTS2 que codifica para la enzima pNPI.…”

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

“…This abnormal ultrastructure has been considered pathognomonic for severe dermatosparaxis [ 42 ] and diagnoses have been based partly or completely on this laboratory finding [ 23 , 65 ]. Nonetheless, less extreme deviations from the normal ultrastructure have been found in the dermis of individuals with less severe forms of dermatosparaxis [ 45 , 49 , 51 , 66 ], and also in dermal samples from human patients with the Arthrochalasia subtype of EDS, characterized by articular hypermobility, dislocations and subluxations, and by fragile tissue and hyperextensible skin [ 67 ]. Arthrochalasia results from heterozygous COL1A1 or COL1A2 mutations that disrupt the procollagen-aminopeptidase cleavage sites in the encoded proteins resulting in the retention of the aminopropeptide on some of the expressed α1(I) or α2(I) subunits [ 2 , 34 , 67 , 68 ].…”