Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: Case report and review of the literature

Gölles, A.; Stolz, P.; Freyschmidt, Juergen; Schmitt, R.

doi:10.1016/j.ejrad.2010.11.034

Cited by 12 publications

(8 citation statements)

References 7 publications

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“…These characteristics were clusters of chondrocytes surrounded by a faint fibrillary matrix, 7 and ossification centres in the cartilaginous matrix with a small area of unabsorbed calcified cartilage above it. 23,24,27,28 We identified these clusters of chondrocytes and ossification centres in both cases of DEH. The faint fibrillary matrix surrounding these clumps of chondrocytes was also clearly detected in the Safranin-O and collagen type II staining.…”

Section: Discussionmentioning

confidence: 88%

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Stevens

Welting

Witlox

et al. 2017

Journal of Children's Orthopaedics

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PurposeDysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases.MethodsTissue samples of two age- and gender-matched cases with DEH and hereditary multiple exostoses were histologically compared. Sections were stained with Safranin-O for detection of proteoglycans and immunohistochemistry was performed for detection of collagen type II, collagen type X as a marker of hypertrophic chondrocytes and Sox9 as a marker of proliferative chondrocytes. Due to the rarity, descriptions of the included DEH patients were outlined.ResultsHistologically, chondrocyte clusters in a fibrillary matrix, a thick disorganised cartilage cap and ossification centres with small amounts of unabsorbed cartilage, were observed in DEH. In contrast, cartilage organisation of osteochondromas displays characteristics of the normal growth plate. Collagen type II was clearly detected in the cartilaginous extracellular matrix in osteochondromas, while weak expression was observed in DEH. Collagen type X was not detected in DEH, while expressed in the matrix surrounding hypertrophic chondrocytes in osteochondromas. Sox9 staining was positive in hypertrophic chondrocytes in osteochondromas, while expressed in nuclei of chondrocyte clusters in DEH.ConclusionBoth morphological and immunohistological differences were observed in histological sections of DEH and osteochondromas. These results support the previously identified clinical, radiological and genetic differences and imply a different aetiology between DEH and osteochondroma formation.

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Section: Discussionmentioning

confidence: 88%

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Stevens

Welting

Witlox

et al. 2017

Journal of Children's Orthopaedics

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“…El diagnóstico diferencial con el osteocondroma se hace en función de la localización, dado que mientras la DEH es epifisaria el osteocondroma se desarrolla en la metáfisis o en la diáfisis. La osteocondromatosis sinovial puede distinguirse de la DEH porque en la primera no existen irregularidades en el contorno de los huesos mientras que estas irregularidades sí se encuentran en la DEH 7 .…”

Section: Discussionunclassified

“…La RMN es fundamental en el diagnóstico de la DEH porque facilita la localización del origen de la lesión en la epífisis, permite valorar el grado de afectación de la misma y delimitar el componente cartilaginoso no osificado. La hiperintensidad en T2 es típica de la envoltura cartilaginosa, con mayor intensidad que la unión hueso-cartílago normal 7 . La biopsia raramente es necesaria dada la elevada especificidad de la RMN.…”

Section: Discussionunclassified

Displasia epifisaria hemimélica en falange proximal del tercer dedo de la mano

Alcazar

Escobar

Calvo

2015

Rev Iberoam Cir Mano

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“…Afecta mayormente a los huesos largos del miembro inferior y huesos del tarso, en especial la rodilla, el tobillo y el astrágalo (8,35) . Existen casos raros reportados a nivel de la cadera, patela, la columna (36)(37)(38) y en la mano (39) . Se describen tres formas, una localizada, una clásica, afectando más de un área en una sola extremidad, y una forma generalizada, considerándose rara la afectación bilateral (1,40) .…”

Section: Musculoesqueléticounclassified

Osteocondroma: diagnóstico radiológico, complicaciones y variantes

P¹,

M²,

José³

et al. 2013

Rev. chil. radiol.

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Understanding and recognising the spectrum of appearances of osteochondroma is important because it represents the most frequent pseudotumoral bone lesion. There are pathognomonic radiological features that are evident with the currently available imaging methods. The recognition of these features and their potential complications and variants, enables a correct diagnosis to be made, the identification of possible complications and is a guide for the therapeutic decisions of non-conclusive cases.

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Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: Case report and review of the literature

Cited by 12 publications

References 7 publications

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Displasia epifisaria hemimélica en falange proximal del tercer dedo de la mano

Osteocondroma: diagnóstico radiológico, complicaciones y variantes

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