Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review
| Autor: | María Gutiérrez Agulló, Lorea Ruiz Pérez, Luca Schneller-Pavelescu, Natalia Pastor‐Tomás, Isabel Betlloch Mas, Eduardo Vergara-de Caso |
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| Rok vydání: | 2019 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Dermatology Multidisciplinary team Skin Diseases 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine GNAS complex locus Medicine Humans Osteoma cutis Child Pseudohypoparathyroidism biology business.industry Ossification Cutaneous nodules medicine.disease 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health biology.protein Pseudopseudohypoparathyroidism Female medicine.symptom business Skin lesion |
| Zdroj: | Pediatric dermatology. 36(3) |
| ISSN: | 1525-1470 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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