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

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 Cases

authors

Li YL,Han T,Hong F

doi

10.12998/wjcc.v8.i3.587

subject

Has Abstract

pub_date

2020-02-06 00:00:00

pages

587-593

issue

3

issn

2307-8960

journal_volume

8

pub_type

  • Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.

    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

    authors: Li N,Qiao C,Lv Y,Yang T,Liu H,Yu WQ,Liu CX

    更新日期:2019-11-06 00:00:00

  • Therapeutic experience of an 89-year-old high-risk patient with incarcerated cholecystolithiasis: A case report and literature review.

    abstract:BACKGROUND:The global pandemic of coronavirus disease 2019 pneumonia poses a particular challenge to the emergency surgical treatment of elderly patients with high-risk acute abdominal diseases. Elderly patients are a high-risk group for surgical treatment. If the incarceration of gallstones cannot be relieved, emergen...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i20.4908

    authors: Zhang ZM,Zhang C,Liu Z,Liu LM,Zhu MW,Zhao Y,Wan BJ,Deng H,Yang HY,Liao JH,Zhu HY,Wen X,Liu LL,Wang M,Ma XT,Zhang MM,Liu JJ,Liu TT,Huang NN,Yuan PY,Gao YJ,Zhao J,Guo XA,Liao F,Li FY,Wang XT,Yuan RJ,Wu

    更新日期:2020-10-26 00:00:00

  • Pulmonary benign metastasizing leiomyoma: A case report and review of the literature.

    abstract:BACKGROUND:Pulmonary benign metastatic leiomyoma (PBML), which is very rare, is a type of benign metastatic leiomyoma (BML). Here, we report a case of PBML, finally diagnosed through multidisciplinary team (MDT) discussions, and provide a literature review of the disease. CASE SUMMARY:A 55-year old asymptomatic woman ...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i14.3082

    authors: Dai HY,Guo SL,Shen J,Yang L

    更新日期:2020-07-26 00:00:00

  • Late-onset non-islet cell tumor hypoglycemia: A case report.

    abstract:BACKGROUND:Hypoglycemia due to non-insulin-producing tumors is referred to as non-islet cell tumor hypoglycemia (NICTH). As NICTH is a rare lesion, the natural course of NICTH is not well understood. We report a case of NICTH that was observed 30 years before the onset of hypoglycemia. CASE SUMMARY:A 50-year-old man w...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v9.i1.163

    authors: Matsumoto S,Yamada E,Nakajima Y,Yamaguchi N,Okamura T,Yajima T,Yoshino S,Horiguchi K,Ishida E,Yoshikawa M,Nagaoka J,Sekiguchi S,Sue M,Okada S,Fukuda I,Shirabe K,Yamada M

    更新日期:2021-01-06 00:00:00

  • Differential diagnosis of a vanishing brain space occupying lesion in a child.

    abstract::We describe clinical, diagnostic features and follow up of a patient with a vanishing brain lesion. A 14-year-old child admitted to the department of Neurology at September 2009 with a history of subacute onset of fever, anorexia, vomiting, blurring of vision and right hemiparesis since one month. Magnetic resonance i...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v3.i11.956

    authors: Hamed SA,Mekkawy MA,Abozaid H

    更新日期:2015-11-16 00:00:00

  • Treating aplasia cutis congenita in a newborn with the combination of ionic silver dressing and moist exposed burn ointment: A case report.

    abstract:BACKGROUND:Aplasia cutis congenita (ACC) in newborns is a condition in which congenital defects or hypoplasia is present in part of the epidermis, dermis and even subcutaneous tissue (including muscle and bones). First reported by Cordon in 1767, ACC is a rare disease with a low incidence of 1/100000 to 3/10000. Curren...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v7.i17.2611

    authors: Lei GF,Zhang JP,Wang XB,You XL,Gao JY,Li XM,Chen ML,Ning XQ,Sun JL

    更新日期:2019-09-06 00:00:00

  • Accuracy study of a binocular-stereo-vision-based navigation robot for minimally invasive interventional procedures.

    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

    pub_type: 杂志文章

    doi:10.12998/wjcc.v8.i16.3440

    authors: Wang R,Han Y,Luo MZ,Wang NK,Sun WW,Wang SC,Zhang HD,Lu LJ

    更新日期:2020-08-26 00:00:00

  • Modified procedure for prolapse and hemorrhoids: Lower recurrence, higher satisfaction.

    abstract:BACKGROUND:Hemorrhoidal prolapse is a common benign disease with a high incidence. The treatment procedure for prolapse and hemorrhoids (PPH) remains an operative method used for internal hemorrhoid prolapse. Although it is related to less pos-operative pain, faster recovery and shorter hospital stays, the postoperativ...

    journal_title:World journal of clinical cases

    pub_type: 杂志文章

    doi:10.12998/wjcc.v9.i1.36

    authors: Chen YY,Cheng YF,Wang QP,Ye B,Huang CJ,Zhou CJ,Cai M,Ye YK,Liu CB

    更新日期:2021-01-06 00:00:00

  • Tattooing: A potential novel risk factor for iliopsoas abscess.

    abstract::Iliopsoas abscess (IPA) is an uncommon infection. The clinical presentation is usually insidious. Most patients present with nonspecific symptoms, leading to difficulty in prompt and accurate diagnosis. Delay in diagnosis can lead to complications, such as sepsis and death. Tattooing has become more popular over the r...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v2.i9.459

    authors: Gulati S,Jain A,Sattari M

    更新日期:2014-09-16 00:00:00

  • Small-cell neuroendocrine carcinoma of the rectum - a rare tumor type with poor prognosis: A case report and review of literature.

    abstract:BACKGROUND:Small-cell neuroendocrine carcinoma (SNEC) of the rectum is a rare tumor associated with poor prognosis. CASE SUMMARY:We report a case of a 77-year-old male who came into our hospital because of blood with his stool. An endoscopy revealed a cauliflower-like neoplasm in his rectum. Imaging examination showed...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i23.6095

    authors: Chen ZZ,Huang W,Wei ZQ

    更新日期:2020-12-06 00:00:00

  • Mediastinal small cell carcinoma with liver and bone marrow metastasis, mimicking lymphoma.

    abstract::Primary mediastinal neuroendocrine tumors are a rare malignancy that accounts for < 10% of all mediastinal tumors. The case presented here involves a 52-year-old man who had been suffering for 3 mo from chronic cough, anorexia and substantial weight loss, as well as 2 wk of jaundice prior to his admission. A computed ...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v3.i10.915

    authors: Nawarawong N,Pongpruttipan T,Aswakul P,Prachayakul V

    更新日期:2015-10-16 00:00:00

  • Heterotopic pancreas adenocarcinoma in the stomach: A case report and literature review.

    abstract:BACKGROUND:Heterotopic pancreas is a common lesion found in the gastrointestinal tract and is usually considered a benign disease. Reports of malignant change of heterotopic pancreas are scarce. CASE SUMMARY:A 44-year-old Chinese female underwent a gastroscopy to assess abdominal distension that had persisted for 2 mo...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i10.1979

    authors: Xiong Y,Xie Y,Jin DD,Wang XY

    更新日期:2020-05-26 00:00:00

  • Clinical outcomes for Conduits and Scaffolds in peripheral nerve repair.

    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

    doi:10.12998/wjcc.v3.i2.141

    authors: Gerth DJ,Tashiro J,Thaller SR

    更新日期:2015-02-16 00:00:00

  • Melanotic Xp11-associated tumor of the sigmoid colon: A case report.

    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

    authors: Wang G,Li GG,Zhu SM,Cai BJ,Yu PJ,Zhang CW

    更新日期:2019-03-06 00:00:00

  • Giant nonfunctional ectopic adrenocortical carcinoma on the anterior abdominal wall: A case report.

    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

    authors: Zhou DK,Liu ZH,Gao BQ,Wang WL

    更新日期:2019-08-06 00:00:00

  • Surgical resection of a large hypopharyngeal hemangioma in an adult using neodymium-doped yttrium aluminum garnet laser: A case report.

    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

    authors: Jin M,Wang CY,Da YX,Zhu W,Jiang H

    更新日期:2020-03-06 00:00:00

  • Medical research during the COVID-19 pandemic.

    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

    authors: AlNaamani K,AlSinani S,Barkun AN

    更新日期:2020-08-06 00:00:00

  • Allergic fungal rhinosinusitis accompanied by allergic bronchopulmonary aspergillosis: A case report and literature review.

    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

    authors: Cheng KJ,Zhou ML,Liu YC,Zhou SH

    更新日期:2019-11-26 00:00:00

  • High expression of squamous cell carcinoma antigen in poorly differentiated adenocarcinoma of the stomach: A case report.

    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

    authors: Wang L,Huang L,Xi L,Zhang SC,Zhang JX

    更新日期:2020-10-06 00:00:00

  • Proliferative verrucous leukoplakia may initially mimic lichenoid reactions.

    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

    authors: Lopes MA,Feio P,Santos-Silva AR,Vargas PA

    更新日期:2015-10-16 00:00:00

  • Synchronous multiple primary gastrointestinal cancers with CDH1 mutations: A case report.

    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

    authors: Hu MN,Lv W,Hu RY,Si YF,Lu XW,Deng YJ,Deng H

    更新日期:2019-07-06 00:00:00

  • Hepatic amyloidosis leading to hepatic venular occlusive disease and Budd-Chiari syndrome: A case report.

    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

    authors: Li TT,Wu YF,Liu FQ,He FL

    更新日期:2019-10-26 00:00:00

  • Can cyclin-dependent kinase 4/6 inhibitors convert inoperable breast cancer relapse to operability? A case report.

    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

    authors: Palleschi M,Maltoni R,Barzotti E,Melegari E,Curcio A,Cecconetto L,Sarti S,Manunta S,Rocca A

    更新日期:2020-02-06 00:00:00

  • Modified laparoscopic Sugarbaker repair of parastomal hernia with a three-point anchoring technique.

    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

    authors: Huang DY,Pan L,Chen QL,Cai XY,Fang J

    更新日期:2018-11-26 00:00:00

  • Sebaceous lymphadenocarcinoma of the parotid gland: A case report.

    abstract:BACKGROUND:Sebaceous lymphadenoma is a benign tumor that occurs rarely in the salivary glands, most commonly in the parotid glands or periparotid lymph nodes, and even more rarely undergoes malignant transformation into a sebaceous lymphadenocarcinoma. CASE SUMMARY:We report an 82-year-old woman who presented with a p...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i22.5751

    authors: Hao FY,Wang YL,Li SM,Xue LF

    更新日期:2020-11-26 00:00:00

  • Diffuse large B-cell lymphoma arising from follicular lymphoma with warthin's tumor of the parotid gland - immunophenotypic and genetic features: A case report.

    abstract:BACKGROUND:Warthin's tumor (WT) is composed of several cysts that are lined with tall, bilayered oncocytic columnar cells and lymphoid stroma. Within WT, the two components rarely transform into carcinoma or lymphoma, and when it does, carcinoma is the most common type. Approximately 28 cases of lymphoma with WT have b...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v7.i22.3895

    authors: Wang CS,Chu X,Yang D,Ren L,Meng NL,Lv XX,Yun T,Cao YS

    更新日期:2019-11-26 00:00:00

  • Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature.

    abstract:BACKGROUND:Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula, although the consanguineous marriage rate is very high. We report the first family from the Arabian Peninsula harboring a novel frameshift mutation in the SACS gene. CASE SUMMARY:A 33...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i8.1477

    authors: Al-Ajmi A,Shamsah S,Janicijevic A,Williams M,Al-Mulla F

    更新日期:2020-04-26 00:00:00

  • Drug-targeting methodologies with applications: A review.

    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

    doi:10.12998/wjcc.v2.i12.742

    authors: Kleinstreuer C,Feng Y,Childress E

    更新日期:2014-12-16 00:00:00

  • Treatment of afferent loop syndrome using fluoroscopic-guided nasointestinal tube placement: Two case reports.

    abstract:BACKGROUND:Afferent loop syndrome (ALS) is a rare mechanical complication that occurs after reconstruction of the stomach or esophagus to the jejunum, such as Billroth II gastrojejunostomy, Roux-en-Y gastrojejunostomy, or Roux-en-Y esophagoje-junostomy. Traditionally, an operation is the first choice for benign causes....

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v8.i21.5353

    authors: Hu HT,Ma FH,Wu ZM,Qi XH,Zhong YX,Xie YB,Tian YT

    更新日期:2020-11-06 00:00:00

  • A large basal cell adenoma extending to the ipsilateral skull base and mastoid in the right parotid gland: A case report.

    abstract:BACKGROUND:Basal cell adenoma (BCA) is a rare benign tumour that has unique histological characteristics and primarily arises in the parotid glands. According to published reports, nearby tissue destruction by BCA seems impossible. CASE SUMMARY:We presented a case of a 54-year-old woman with a mass in the deep lobe of...

    journal_title:World journal of clinical cases

    pub_type:

    doi:10.12998/wjcc.v7.i11.1351

    authors: Du LY,Weng XH,Shen ZY,Cheng B

    更新日期:2019-06-06 00:00:00