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Calcinosis cutis bei hereditärer Albright-Osteodystrophie

Pseudohypoparathyreoidismus Typ Ia

Calcinosis cutis in Albright hereditary osteodystrophy

Pseudohypoparathyroidism Type Ia

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Zusammenfassung

Die autosomal-dominant vererbte Albright-Osteodystrophie (AHO) ist charakterisiert durch einen Symptomenkomplex bestehend aus Minderwuchs, Brachymetakarpie, Fettleibigkeit, rundem Gesicht, kutanen Osteomen und einer mentalen Retardierung. Zu Grunde liegen Mutationen im GNAS-Gen auf Chromosom 20, das für das Gsα-Protein kodiert. Da dieses für die Signaltransduktion verschiedener Peptidhormone verantwortlich ist, kommt die AHO nicht selten in Kombination mit einer Endokrinopathie, wie z. B. einem Pseudohypoparathyreoidismus oder einer Hypothyreose, vor. Wir stellen einen 9 Monate alten männlichen Säugling mit den für dieses Syndrom typischen Veränderungen vor. Gesichert wurde die Diagnose biochemisch und molekulargenetisch. Ungewöhnlich ist die frühe Manifestation der Calcinosis cutis, die uns zur Durchführung einer umfangreichen Diagnostik veranlasste.

Abstract

Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity, round facies, cutaneous osteomas, and mental retardation. AHO is caused by mutations in the GNAS-gene localized on chromosome 20 encoding for Gsα protein, a signal transducer of endocrine pathways. Therefore, AHO is often associated with endocrinopathy such as pseudohypoparathyroidism or hypothyroidism. A nine-month-old boy presented with typical features of this syndrome. The diagnosis was confirmed by biochemical and molecular analyses. An unusual feature was calcinosis cutis at such an early age, which led to extensive differential diagnostic procedures.

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Authors and Affiliations

  1. Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel

    R. Fölster-Holst, M. Möller & J. Brasch

  2. Klinik für Allgemeine Pädiatrie, Pädiatrische Endokrinologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel

    F. G. Riepe, C.-J. Partsch & W. G. Sippell

  3. Kinderklinik, Pädiatrische Endokrinologie und Diabetes, Universitätsklinikum Schleswig-Holstein, Campus Lübeck

    W. Ahrens & O. Hiort

  4. Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Schittenhelmstraße 7, 24105 , Kiel

    R. Fölster-Holst

Authors
  1. R. Fölster-Holst
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  2. F. G. Riepe
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  3. W. Ahrens
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  4. M. Möller
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  5. J. Brasch
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  6. C.-J. Partsch
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  7. O. Hiort
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  8. W. G. Sippell
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Correspondence to R. Fölster-Holst.

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Fölster-Holst, R., Riepe, F.G., Ahrens, W. et al. Calcinosis cutis bei hereditärer Albright-Osteodystrophie. Hautarzt 57, 893–897 (2006). https://doi.org/10.1007/s00105-005-1040-4

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  • DOI: https://doi.org/10.1007/s00105-005-1040-4

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