[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].
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.
Fölster-Holst
R
R
Dermatologie, Venerologie und Allergologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Germany. rfoelsterholst@dermatology.uni-kiel.de
Riepe
F G
FG
Ahrens
W
W
Möller
M
M
Brasch
J
J
Partsch
C-J
CJ
Hiort
O
O
Sippell
W G
WG
D002114:Calcinosis / Q000175:diagnosis* / Q000235:genetics; D002864:Chromogranins; D003937:Diagnosis, Differential; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis* / Q000235:genetics; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D011546:Pseudohypoaldosteronism / Q000175:diagnosis* / Q000235:genetics; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs