scholarly journals Congenital Hypotrichosis Simplex: A Case Report

2019 ◽  
Vol 43 (1) ◽  
pp. 59-61
Author(s):  
Maria Kibtiar ◽  
Romana Akther ◽  
Mohammed Mahbubul Islam ◽  
Shahana A Rahman

Congenital hypotrichosis simplex of scalp is a rare disorder which only affect the scalp hair. Rest of the hair bearing areas are spared. In this disorder the scalp hair are absent or sparse. We describe a 5 month old boy presented with no growth of scalp hair since birth in this case report. After taking detailed history, a thorough physical examination was done. Other causes of alopecia were ruled out and finally the child was diagnosed as a case of Congenital Hypotrichosis Simplex (CHS). Bangladesh J Child Health 2019; VOL 43 (1) :59-61

2012 ◽  
Vol 87 (5) ◽  
pp. 775-777 ◽  
Author(s):  
Raquel Bissacotti Steglich ◽  
Renata Elise Tonoli ◽  
Giselle Martins Pinto ◽  
Fernanda Melo Müller ◽  
Isabelle Maffei Guarenti ◽  
...  

A 33-year-old woman presented with a 3-year history of progressive alopecia of the scalp. Past treatment with hydroxicloroquine did not show improvement. Physical examination revealed multiple areas of alopecia with atrophic aspect of the scalp, and axillary and pubic hypotrichosis. Dermoscopy showed hyperkeratosis and accentuation of follicular ostia. Anatomopathological examination revealed decrease in the number of hair follicles, upper perifollicular infiltrate and areas with fibrosis. The Piccardi-Lassueur-Graham-Little syndrome is a rare disorder, characterized by the triad of multifocal scarring alopecia of the scalp, keratotic follicular eruption and hypotrichosis of axillary and pubic regions. Management is a challenge and many medications tried have controversial results. We report a case of this rare syndrome which improved with corticoids.


The Healer ◽  
2021 ◽  
Vol 2 (02) ◽  
pp. 102-105
Author(s):  
Khushboo Jha ◽  
Kajal Jha ◽  
K. Bharathi ◽  
Sonu Verma

ABSTRACT: A  female  patient  of  25  years  of  age  came  to  OPD  of Arogyam Health Care on 15\5\2076 B.S. with complaints of want issue since 3 years. She had not achieved her menses since 3 months and her menstruation was irregular since menarche. Methodology:  Detailed  history  with  all  necessary  clinical,  physical  examination  and laboratory  investigations  were  carried  out.  No gross physical and chemical abnormality was found. All the laboratory investigations (including USG and hormonal analysis) were found to be normal. So the treatment was planned according to the symptoms. Diagnosis made on the basis on the basis of presenting complaints was Vandhaytwa.  Patient was treated with Arogyavardhi vati, Dashmoolarista, Kanchanar guggulu, Matra vasti and nasya with Mahanarayan taila, Bandhyaharan churna and Aswagandha churna. Patient was kept on follow. Result: Patient had got her menstruation regularly with normal duration while taking medicine.  Also  the  amount  of  flow  was  also  improved  and the patient got conceived.  Keywords: Vandhyatwa, Vasti, Nasya, Arogyavardhini vati, Dashmoolarishta


2012 ◽  
Vol 1 (2) ◽  
pp. 81-84 ◽  
Author(s):  
Shekhar Bhattacharjee ◽  
Swapna Bhattacharjee

Primary pulmonary hypertension (PPH) is a rare disease which usually presents with  shortness of breath. We report a case of a female patient who presented with dyspnoea. We  diagnosed her as a case of PPH on the basis of detailed history, careful physical examination  and common investigations like electrocardiogram (ECG), chest radiography and Doppler  echocardiograhy.   DOI: http://dx.doi.org/10.3329/jemc.v1i2.11468   J Enam Med Col 2011; 1(2): 81-84


Author(s):  
Sang Ngoc Nguyen ◽  
Tuan Nguyen ◽  
Lam Vu ◽  
Cuong Hoang

Fishbone perforation, a severe complication causing damage to nearby organs, is difficult to diagnose because the patient and family cannot remember the history of fishbone ingestion exactly. A detailed history of eating, as well as a thorough physical examination and diagnostic imaging, are needed to make an accurate diagnosis.


2020 ◽  
Vol 16 (3) ◽  
pp. 295-300
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
◽  
Milena Wronecka ◽  
Natalia Panasiuk ◽  
Karolina Kasiak ◽  
...  

In December 2019, China reported cases of infections caused by a new zoonotic coronavirus, which gradually developed into a pandemic. The disease was initially believed to be mild in children. In April 2020, a possible relationship between a new paediatric multisystem inflammatory syndrome and SARS-CoV-2 was found. In May, the Royal College of Paediatrics and Child Health published the criteria for the diagnosis of this new disease. We present a case of a 6-year-old boy retrospectively diagnosed with SARS-CoV-2-related multisystem inflammatory syndrome based on medical history, physical examination, laboratory and imaging findings, as well as the available literature.


ORL ro ◽  
2016 ◽  
Vol 1 (1) ◽  
pp. 48-50
Author(s):  
Adina A. Zamfir-Chiru-Anton ◽  
D.C. Gheorghe

The authors present the case of a 4-year-old child admitted to the ENT Department with possible pulmonary foreign body aspiration. A detailed history revealed a clinical picture that seemed to depict an absence episode (with partial loss of conscience and cianosis) occured when eating, less the symptomes of a respiratory foreign body. Diagnosis needed full respiratory endoscopy and neurologic evaluation for correct assesment and effective therapy approach.


2019 ◽  
Vol 30 (4) ◽  
pp. 541-544
Author(s):  
Justin Slavin ◽  
Marcello DiStasio ◽  
Paul F. Dellaripa ◽  
Michael Groff

The authors present a case report of a patient discovered to have a rotatory subluxation of the C1–2 joint and a large retroodontoid pannus with an enhancing lesion in the odontoid process eventually proving to be caused by gout. This patient represented a diagnostic conundrum as she had known prior diagnoses of not only gout but also sarcoidosis and possible rheumatoid arthritis, and was in the demographic range where concern for an oncological process cannot fully be ruled out. Because she presented with signs and symptoms of atlantoaxial instability, she required posterior stabilization to reduce the rotatory subluxation and to stabilize the C1–2 instability. However, despite the presence of a large retroodontoid pannus, she had no evidence of spinal cord compression on physical examination or imaging and did not require an anterior procedure to decompress the pannus. To confirm the diagnosis but avoid additional procedures and morbidity, the authors proceeded with the fusion as well as a posterior biopsy to the retroodontoid pannus and confirmed a diagnosis of gout.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.


2015 ◽  
Vol 6 (2) ◽  
pp. ar.2015.6.0127 ◽  
Author(s):  
Juliette O. Flam ◽  
Christopher D. Brook ◽  
Rachel Sobel ◽  
John C. Lee ◽  
Michael P. Platt

Introduction Epithelial myoepithelial carcinoma (EMC) of the nasal cavity is a rare tumor, and here we describe the first case of EMC of the nasal cavity presenting with epiphora. A case presentation and review of the literature is provided. Methods A case report is described of a 63-year-old man who presented with unilateral epiphora and was found via a thorough history and physical examination to have a nasal tumor. The physical examination consisted of an ocular examination, including probing and irrigation, and a detailed nasal examination (anterior rhinoscopy, nasal endoscopy). The nasal examination was prompted by the patient's report of concurrent nasal symptoms during history taking. Immunohistochemistry subsequently identified the nasal tumor as EMC. A literature search was performed to gain insights into similar malignancies of the nasal cavity. Results Eight cases of EMC of the nasal cavity were identified in the literature, none of the patients presented with epiphora. The case presented here resulted in resolution of the patient's symptoms and no evidence of disease after surgical excision. Conclusion Epithelial myoepithelial is a rare salivary gland malignancy that can arise in the nasal cavity. Unilateral epiphora with concurrent nasal symptoms should prompt nasal cavity examination for the possibility of an obstructive tumor.


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