scholarly journals Prosthodontic Rehabilitation of a Female Child with Ectodermal Dysplasia: A Case Report

2021 ◽  
Vol 15 (3) ◽  
Author(s):  
Aleshba Saba Khan ◽  
Abdul Mueed Zaigham ◽  
Maryam Mumtaz
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Female Child

Ectodermal Dysplasia in two siblings: A Case report.

2019 ◽  
Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Heterogeneous Group ◽  
Eccrine Glands ◽  
Key Words Ectodermal Dysplasia

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

scholarly journals Bloodstream infection with Acinetobacter baumanii in a Plasmodium falciparum positive infant: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Charity Wiafe Akenten ◽  
Kennedy Gyau Boahen ◽  
Kwadwo Sarfo Marfo ◽  
Nimako Sarpong ◽  
Denise Dekker ◽  
...  
Keyword(s):  
Case Report ◽  
Bacterial Infections ◽  
Treatment Options ◽  
Female Child ◽  
Correct Choice ◽  
Blood Cultures ◽  
Microbial Culture ◽  
Acinetobacter Baumanii ◽  
Inappropriate Use ◽  
History Of

Abstract Background The increasing incidence of multi-antibiotic-resistant bacterial infections, coupled with the risk of co-infections in malaria-endemic regions, complicates accurate diagnosis and prolongs hospitalization, thereby increasing the total cost of illness. Further, there are challenges in making the correct choice of antibiotic treatment and duration, precipitated by a lack of access to microbial culture facilities in many hospitals in Ghana. The aim of this case report is to highlight the need for blood cultures or alternative rapid tests to be performed routinely in malaria patients, to diagnose co-infections with bacteria, especially when symptoms persist after antimalarial treatment. Case presentation A 6-month old black female child presented to the Agogo Presbyterian Hospital with fever, diarrhea, and a 3-day history of cough. A rapid diagnostic test for malaria and Malaria microscopy was positive for P. falciparum with a parasitemia of 224 parasites/μl. The patient was treated with Intravenous Artesunate, parental antibiotics (cefuroxime and gentamicin) and oral dispersible zinc tablets in addition to intravenous fluids. Blood culture yielded Acinetobacter baumanii, which was resistant to all of the third-generation antibiotics included in the susceptibility test conducted, but sensitive to ciprofloxacin and gentamicin. After augmenting treatment with intravenous ciprofloxacin, all symptoms resolved. Conclusion Even though this study cannot confirm whether the bacterial infection was nosocomial or otherwise, the case highlights the necessity to test malaria patients for possible co-infections, especially when fever persists after parasites have been cleared from the bloodstream. Bacterial blood cultures and antimicrobial susceptibility testing should be routinely performed to guide treatment options for febril illnesses in Ghana in order to reduce inappropriate use of broad-spectrum antibiotics and limit the development of antimicrobial resistance.

Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Congenital Hypothyroidism ◽  
Genetic Diseases ◽  
Female Child

scholarly journals EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature

2015 ◽  
Vol 14 (3) ◽  
pp. 10344-10351 ◽  
Author(s):  
S.X. Huang ◽  
J.L. Liang ◽  
W.G. Sui ◽  
H. Lin ◽  
W. Xue ◽  
...  
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals Fourth mandibular molar in a pediatric patient – Case report

2015 ◽  
Vol 5 (20) ◽  
pp. 229-231
Author(s):  
Atanas Vlaykov ◽  
Dian Sharlanov ◽  
Dilyana Vicheva
Keyword(s):  
Case Report ◽  
Oral Cavity ◽  
Treatment Modality ◽  
Treatment Plan ◽  
Female Child ◽  
Permanent Teeth ◽  
Radiographic Examination ◽  
Supernumerary Teeth ◽  
Patient Case ◽  
Mandibular Molar

Abstract Background. Supernumerary teeth are described as an excess of the normal teeth number of 20 deciduous and 32 permanent teeth and can occur in any dental region. Material and methods. The authors present the case of a 12-year-old female child with a paramolar in the maxilla, discovered accidentally during an orthopantomogram, emphasising the treatment modality and the complications that can appear. Conclusion. Supernumerary teeth can be present in any region of the oral cavity. Both practitioners and clinicians should be aware of the various types of paramolars and make a treatment plan after an accurate clinical and radiographic examination.

scholarly journals An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

2021 ◽  
Vol 9 (11) ◽  
Author(s):  
Miwako Toyohara ◽  
Yuko Kajiho ◽  
Etsushi Toyofuku ◽  
Chie Takahashi ◽  
Keiho Owada ◽  
...  
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Pneumocystis Pneumonia ◽  
Anhidrotic Ectodermal Dysplasia

scholarly journals Functioning adrenocortical carcinoma causing virilisation: a case report

2020 ◽  
Vol 7 (2) ◽  
pp. 442
Author(s):  
Vivek Parameswara Sarma ◽  
Sunil S. Menon
Keyword(s):  
Case Report ◽  
Steroid Hormone ◽  
Abdominal Mass ◽  
Female Child ◽  
Young Female ◽  
Imaging Features ◽  
Adrenal Hyperplasia ◽  
Fourth Decade ◽  
Localized Disease ◽  
Uncommon Tumor

Adrenocortical carticnoma (ACC) is an uncommon tumor with an incidence of 1-2 cases/million/year. It has two peak incidences; the first one in the first decade and the second one in the fourth decade. Most patients present with features of steroid hormone excess or abdominal mass effects, but about 15% of ACC are diagnosed incidentally. It is hormonally functional in 80 - 100% patients and the predisposing lesions include congenital adrenal hyperplasia and adenoma. ACC has significant syndromic and genetic association. Surgery offers the best chance of cure, especially in localized disease. Here, we present the case of virilization in a young female child secondary to a functioning ACC. The child had classical hormonal and imaging features of functioning ACC and underwent resection of the tumor (Adrenalectomy) with good outcome.

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