Abstract:
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 mutation. CASE 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.399delT (p.Ser133Argfs*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 decreased. CONCLUSION:These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.
journal_name
World J Clin Casesjournal_title
World journal of clinical casesauthors
Li YL,Han T,Hong Fdoi
10.12998/wjcc.v8.i3.587subject
Has Abstractpub_date
2020-02-06 00:00:00pages
587-593issue
3issn
2307-8960journal_volume
8pub_type
abstract:BACKGROUND:Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying feature. The etiology of FADS is heterogeneous and mostly still unknown. A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology. However, the...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i21.3655
更新日期:2019-11-06 00:00:00
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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doi:10.12998/wjcc.v8.i14.3082
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v9.i1.163
更新日期:2021-01-06 00:00:00
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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abstract:BACKGROUND:Medical robot is a promising surgical tool, but no specific one has been designed for interventional treatment of chronic pain. We developed a computed tomography-image based navigation robot using a new registration method with binocular vision. This kind of robot is appropriate for minimal invasive interve...
journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v9.i1.36
更新日期:2021-01-06 00:00:00
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i23.6095
更新日期:2020-12-06 00:00:00
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v3.i10.915
更新日期:2015-10-16 00:00:00
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i10.1979
更新日期:2020-05-26 00:00:00
abstract::The gold standard of peripheral nerve repair is nerve autograft when tensionless repair is not possible. Use of nerve autograft has several shortcomings, however. These include limited availability of donor tissue, sacrifice of a functional nerve, and possible neuroma formation. In order to address these deficiencies,...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
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更新日期:2015-02-16 00:00:00
abstract:BACKGROUND:Melanotic Xp11-associated tumors are rare mesenchymal-derived tumors. So far, most primary melanotic Xp11-associated tumors have been reported in the kidney, and reports of this tumor in the gastrointestinal tract are rare. CASE SUMMARY:Here we describe the case of a 25-year-old woman who presented with a m...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i5.684
更新日期:2019-03-06 00:00:00
abstract:BACKGROUND:Adrenocortical cancer (ACC) is an infrequent and often aggressive malignancy with a very poor prognosis. It can be classified as functional or nonfunctional. Nonfunctional ACC is hampered by the absence of specific signs or symptoms; only abdominal pain with or without incidental adrenal occupation is typica...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i15.2075
更新日期:2019-08-06 00:00:00
abstract:BACKGROUND:Generally, hemangiomas do not require surgical intervention; however, cases of large hemangiomas, potentially involving the throat and trachea, necessitate surgical therapy. Here, we present a case of hypopharyngeal hemangioma in an adult that was successfully treated with neodymium-doped yttrium aluminum ga...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i5.932
更新日期:2020-03-06 00:00:00
abstract::The current pandemic of coronavirus disease 2019 (COVID-19) which was first detected in Wuhan, China in December 2019 is caused by the novel coronavirus named severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). The virus has quickly spread to a large number of countries leading to a great number of deaths. U...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v8.i15.3156
更新日期:2020-08-06 00:00:00
abstract:BACKGROUND:Concomitant allergic fungal rhinosinusitis (AFRS) and allergic bronchopulmonary aspergillosis (ABPA) are extremely rare, with no more than 20 cases reported in the English literature. CASE SUMMARY:A 52-year-old female patient complained of right-sided nasal obstruction, rhinorrhea, sneezing, epistaxis, and ...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i22.3821
更新日期:2019-11-26 00:00:00
abstract:BACKGROUND:Squamous cell carcinoma antigen (SCCA) is regarded as a specific indicator of epithelial malignancies and is widely used in the diagnosis of squamous cell carcinoma (SCC). However, the expression of SCCA in gastric adenocarcinoma has not been studied in detail. CASE SUMMARY:A 52-year-old man was admitted to...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i19.4572
更新日期:2020-10-06 00:00:00
abstract::Proliferative verrucous leukoplakia is an intriguing disease, which occurs particularly in women aged greater than 60 years, is not associated with tobacco and alcohol, and has a high risk of recurrence and malignant transformation. Although it is well known that the typical presentation is characterized by multifocal...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v3.i10.861
更新日期:2015-10-16 00:00:00
abstract:BACKGROUND:Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between CDH1 mutatio...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i13.1703
更新日期:2019-07-06 00:00:00
abstract:BACKGROUND:Systemic amyloidosis in which multiple systems can be involved has become a common clinical disease. When the liver is affected, symptoms such as abdominal distension, fatigue, edema, liver, and jaundice could appear. To date, hepatic amyloidosis combined with hepatic venular occlusive disease and Budd-Chiar...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i20.3282
更新日期:2019-10-26 00:00:00
abstract:BACKGROUND:Pathological complete response (pCR) is rare in hormone receptor-positive (HR+) HER2-negative breast cancer (BC) treated with either endocrine therapy (ET) or chemotherapy. Radical resection of locoregional relapse, although potentially curative in some cases, is challenging when the tumor invades critical s...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i3.517
更新日期:2020-02-06 00:00:00
abstract:AIM:To retrospectively evaluate the safety and feasibility of a new modified laparoscopic Sugarbaker repair in patients with parastomal hernias. METHODS:A retrospective study was performed to analyze eight patients who underwent parastomal hernia repair between June 2016 and January 2018. All of these patients receive...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v6.i14.759
更新日期:2018-11-26 00:00:00
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i22.5751
更新日期:2020-11-26 00:00:00
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i22.3895
更新日期:2019-11-26 00:00:00
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i8.1477
更新日期:2020-04-26 00:00:00
abstract::Targeted drug delivery to solid tumors is a very active research area, focusing mainly on improved drug formulation and associated best delivery methods/devices. Drug-targeting has the potential to greatly improve drug-delivery efficacy, reduce side effects, and lower the treatment costs. However, the vast majority of...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
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更新日期:2014-12-16 00:00:00
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journal_title:World journal of clinical cases
pub_type:
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更新日期:2020-11-06 00:00:00
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journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i11.1351
更新日期:2019-06-06 00:00:00