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Linear skin atrophy preceding calcinosis cutis in pseudo‐pseudohypoparathyroidism
Author(s) -
Lau K.,
Willig R. P.,
Hiort O.,
Hoeger P. H.
Publication year - 2012
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2011.04292.x
Subject(s) - pseudohypoparathyroidism , gnas complex locus , medicine , short stature , calcinosis cutis , frameshift mutation , endocrinology , calcinosis , osteodystrophy , parathyroid hormone , calcification , mutation , calcium , biology , gene , genetics
Summary 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.