Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Al, Kaissi, A; Misof, BM; Laccone, F; Blouin, S; Roschger, P; Kircher, SG; Shboul, M; Mindler, GT; Girsch, W; Ganger, R.
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.
Calcif Tissue Int. 2021; 109(5):586-595
Doi: 10.1007/s00223-021-00862-z
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Girsch Werner
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Biopsy - administration & dosage
- Bone Density - administration & dosage
- Bone and Bones - administration & dosage
- Child - administration & dosage
- Female - administration & dosage
- Humans - administration & dosage
- Phenotype - administration & dosage
- Proteus Syndrome - genetics
- Find related publications in this database (Keywords)
- Proteus syndrome
- Transiliac bone biopsy
- Histomorphometry
- Bone mineralization density distribution
- Osteocyte lacunae sections characteristics