ErkrankungKalzinose, tumoröse; Differentialdiagnose

NGS +

Störung des P/Ca Metabolismus, insbesondere in jüngeren Altersgruppen, kalzifizierte Ablagerungen in nebeneinander liegenden Gelenkregionen (Hüfte, Ellenbogen, Sprunggelenk, Schulterblatt) ohne Gelenkbeteiligung. Die Läsionen zeigen eine Kollagennekrobiose, gefolgt von Zystenbildung, Fremdkörperreaktion mit Verkalkung; 2 Formen: normocalcemische Tumorkalzinose, familiäre Tumorkalzinose

• Alias: Familial Tumoral Calcinosis
• Alias: Hyperostosis-Hyperphosphatemia Syndrome
• Alias: Hyperphosphatemic Familial Tumoral Calcinosis
• Alias: Morbus Teutschländer (GALNT3)
• Alias: Primary Hyperphosphatemic Tumoral Calcinosis
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
• Allelic: Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
• Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
• Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
• Allelic: Hypophosphatemic rickets, AD (FGF23)
• Allelic: Hypophosphatemic rickets, Ar, 2 (ENPP1)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Obesity, susceptibility to (ENPP1)
• Allelic: Osteogenesis imperfecta, type I-IV (COL1A1)
• Allelic: Porphyria, hepatoerythropoietic (UROD)
• Allelic: Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Allelic: Pseudopseudohypoparathyroidism (GNAS)
• Allelic: Pseudoxanthoma elasticum (ABCC6)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Arterial calcification, generalized, of infancy, 1 (ENPP1)
• Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Caffey disease (COL1A1)
• Calcification of joints + arteries (NT5E)
• Cole disease (ENPP1)
• Fibrodysplasia ossificans progressiva (ACVR1)
• MIRAGE syndrome (SAMD9)
• Osseous heteroplasia, progressive (GNAS)
• Porphyria cutanea tarda (UROD)
• Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Tumoral calcinosis, hyperphosphatemic, familial, 1 (GALNT3)
• Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
• Tumoral calcinosis, hyperphosphatemic, familial, 3 (KL)