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[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].
Hautarzt. 2006 Oct; 57(10):893-7.H

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 Gsalpha 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.

Authors+Show Affiliations

Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Germany. rfoelsterholst@dermatology.uni-kiel.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

ger

PubMed ID

16270203

Citation

Fölster-Holst, R, et al. "[Calcinosis Cutis in Albright Hereditary Osteodystrophy: Pseudohypoparathyroidism Type Ia]." Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, vol. 57, no. 10, 2006, pp. 893-7.
Fölster-Holst R, Riepe FG, Ahrens W, et al. [Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia]. Hautarzt. 2006;57(10):893-7.
Fölster-Holst, R., Riepe, F. G., Ahrens, W., Möller, M., Brasch, J., Partsch, C. J., Hiort, O., & Sippell, W. G. (2006). [Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia]. Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 57(10), 893-7.
Fölster-Holst R, et al. [Calcinosis Cutis in Albright Hereditary Osteodystrophy: Pseudohypoparathyroidism Type Ia]. Hautarzt. 2006;57(10):893-7. PubMed PMID: 16270203.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia]. AU - Fölster-Holst,R, AU - Riepe,F G, AU - Ahrens,W, AU - Möller,M, AU - Brasch,J, AU - Partsch,C-J, AU - Hiort,O, AU - Sippell,W G, PY - 2005/11/5/pubmed PY - 2007/1/18/medline PY - 2005/11/5/entrez SP - 893 EP - 7 JF - Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete JO - Hautarzt VL - 57 IS - 10 N2 - 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 Gsalpha 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. SN - 0017-8470 UR - https://www.unboundmedicine.com/medline/citation/16270203/[Calcinosis_cutis_in_Albright_hereditary_osteodystrophy:_pseudohypoparathyroidism_type_Ia]_ L2 - https://dx.doi.org/10.1007/s00105-005-1040-4 DB - PRIME DP - Unbound Medicine ER -