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cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature

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World Journal of Clinical Cases 2020年第3期8卷 587-593页

作者： Yun-Ling Li Ting Han Fang Hong Department of Dermatology The Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052Zhejiang ProvinceChina Department of Children’s Health Care The Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052Zhejiang ProvinceChina Department of Genetics and Metabolism The Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052Zhejiang ProvinceChina

BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS *** SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(***133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level *** These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.

关键词： Pseudohypoparathyroidism type Ia cutaneous nodules GNAS Pseudohypoparathyroidism Case report

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Juvenile Xanthogranuloma: A Case Report with Literature Review

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Open Journal of Pediatrics 2024年第3期14卷 531-535页

作者： Ayad Ghanam Manal Azizi Hind Zahiri Aziza El Ouali Abdeladim Babakhouya Maria Rkain Department of Pediatrics Mohammed VI University Hospital Faculty of Medicine and Pharmacy Mohammed First University Oujda Morocco

Juvenile xanthogranuloma (XGJ) is the most common form of non-Langerhansian histiocytosis. We report a pediatric case of multiple XGJ without visceral involvement in a 6-month-old female infant who was hospitalized with disseminated congenital skin nodules, of firm consistency, of variable diameter ranging from a few millimetres to 1 cm, involving the face, scalp, trunk and limbs. There was no mucosal localization. The remainder of the somatic examination was unremarkable. The diagnosis of disseminated XGJ was confirmed by skin biopsy without visceral or systemic involvement. Therapeutic abstention was recommended. This observation underlines the fact that XGJ is a rare clinical entity that should not be overlooked when faced with congenital skin nodules.

关键词： cutaneous nodules Juvenile Xanthogranuloma Child

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