Premium
Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review
Author(s) -
SchnellerPavelescu Luca,
Vergara de Caso Eduardo,
PastorTomás Natalia,
Gutiérrez Agulló María,
Ruiz Pérez Lorea,
Betlloch Mas Isabel
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13769
Subject(s) - pseudohypoparathyroidism , medicine , gnas complex locus , calcinosis cutis , presentation (obstetrics) , dermatology , mccune–albright syndrome , ossification , pediatric endocrinology , osteoma , pediatrics , multidisciplinary team , pathology , parathyroid hormone , surgery , calcinosis , calcification , hormone , biochemistry , chemistry , nursing , gene , calcium , precocious puberty
We report three cases of patients with pseudohypoparathyroidism or pseudopseudohypoparathyroidism. These diseases are considered GNAS inactivating mutation syndromes that are characterized by a diversity of alterations among which a particular phenotype and specific endocrine or ossification abnormalities may be found. These patients may present with hard cutaneous nodules, which can represent osteoma cutis. The presence of these lesions in pediatric patients should prompt the dermatologist's consideration of this group of diseases when reaching a diagnosis. A multidisciplinary team of pediatricians, endocrinologists, geneticists, and dermatologists should carefully evaluate these patients.