Linear skin atrophy preceding calcinosis cutis in pseudo- pseudohypoparathyroidism

K. Lau*, R. P. Willig, O. Hiort, P. H. Hoeger

*Korrespondierende/r Autor/-in für diese Arbeit
8 Zitate (Scopus)

Abstract

Albright hereditary osteodystrophy (AHO) is a syndrome caused by inactivating mutations in the GNAS (guanine nucleotide-binding protein, alpha-stimulating) gene. Patients with AHO have short stature, obesity, brachydactyly and subcutaneous calcifications. AHO can be associated with pseudohypoparathyroidism type IA (PHP-IA) with upregulation of parathyroid hormone, whereas in pseudo-pseudohypoparathyroidism (PPHP), an endocrinopathy is not present. We report the case of a 5-month-old male infant who presented with slowly progressive linear atrophic skin lesions. The histological findings showed evidence of dermal hypoplasia. The child's father had PHP-IA. Four months after presentation, the infant developed calcifications within the pre-existent atrophic lesions. No alterations in calcium metabolism were noted. Analysis of the GNAS gene identified a short duplication leading to a frameshift mutation. We conclude that linear atrophic skin lesions may be an early sign of imminent cutaneous calcifications in AHO.

OriginalspracheEnglisch
ZeitschriftClinical and Experimental Dermatology
Jahrgang37
Ausgabenummer6
Seiten (von - bis)646-648
Seitenumfang3
ISSN0307-6938
DOIs
PublikationsstatusVeröffentlicht - 08.2012

Strategische Forschungsbereiche und Zentren

  • Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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