VINZENZ GRUPPE
     
 

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.

Al Kaissi, A, Misof, B, Laccone, F, Blouin, S, Roschger, P, Kircher, S.G., Shboul, M, Mindler, G.T., Girsch, W und Ganger, R (2021) Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome. Calcif Tissue Int..

Für diesen Eintrag wurde kein Volltext-Dokument angefügt.

Kurzfassung

Abstract Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse tissues of all germ layers, including the skeleton. Here, we present a 9-year-old girl with a somatic-activating mutation (c.49G > A; p.Glu17Lys) in AKT1 gene in a mosaic status typical for Proteus syndrome. She presented with hemihypertrophy of the right lower limb and a "moccasin" lesion among others. A transiliac bone biopsy was analyzed for bone histology/histomorphometry as well as bone mineralization density distribution (BMDD) and osteocyte lacunae sections (OLS) characteristics based on quantitative backscattered electron imaging. Bone histomorphometry revealed highly increased mineralizing surface (Z-score + 2.3) and mineral apposition rate (Z-score + 19.3), no osteoclasts (Z-score - 2.1), and an increased amount of primary bone in the external cortex. BMDD abnormalities included a decreased mode calcium concentration in cancellous bone (Z-score - 1.7) and an increased percentage of highly mineralized cortical bone area (Z-score + 2.4) compared to reference. OLS characteristics showed several differences compared to reference data; among them, there were the highly increased OLS-porosity, OLS-area, and OLS-perimeter on the external cortex (Z-scores + 6.8, + 4.4 and 5.4, respectively). Our findings suggest that increased bone formation reduced matrix mineralization in cancellous bone while the enhanced amount of primary bone in the external cortex increased the portion of highly mineralized cortical bone and caused OLS-characteristics abnormalities. Our results indicate further that remodeling of primary bone might be disturbed or delayed in agreement with the decreased number of osteoclasts observed in this child with Proteus syndrome.
Typ des Eintrags: Fachpublikation (peer reviewed)
Themengebiete: WE Skelett, Muskulatur
Bereiche: Orthopädisches Spital Speising > Kinderorthopädie und Fußchirurgie
Benutzer: Waltraud Krutzler
Hinterlegungsdatum: 25 Jan 2022 09:12
Letzte Änderung: 25 Jan 2022 09:12
URI: https://eprints.vinzenzgruppe.at/id/eprint/9563

Actions (login required)

Eintrag anzeigen
Eintrag anzeigen