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Diagnosis and Syndromes

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144 papers 100 to 500 followers Downloadable Full Articles Only - New Cases/Rare Diagnosis/Case Reports
By Anoop Singh Ranhotra Hello from Nepal
Zainul S Hasanali, Christopher O'Hara
No abstract text is available yet for this article.
February 2017: Pediatrics in Review
C Miles Harmon, Abeer A Azzuqa, Sarangarajan Ranganathan, Burhan Mahmood, Misty Good
No abstract text is available yet for this article.
August 2015: Journal of Pediatrics
Maxence Cormerais, Florence Poizeau, Laure Darrieux, Laurent Tisseau, Gilles Safa
Wells' syndrome (WS), or eosinophilic cellulitis, is an uncommon inflammatory dermatosis of unknown etiology that typically presents with pruritic cellulitis-like plaques on the extremities. Therefore, WS is often misdiagnosed as bacterial cellulitis due to its similarity in presentation. Here, we report two cases of WS that masqueraded as bacterial facial cellulitis. Under treatment with oral prednisone and/or a combination therapy with levocetirizine and hydroxyzine, both patients showed a dramatic improvement of the skin lesions...
May 2015: Case Reports in Dermatology
Marissa Shams, Jeannette Hudgens, Jack L Lesher, Frances Florentino
Wells' syndrome is a rare disease that is even more uncommon in childhood. This case report illustrates the potential devastating extent of the disease and highlights the unusual presentation of bullae in a child. It is imperative to consider Wells' syndrome in patients with presumed cellulitis and eosinophilia who fail to respond to antibiotics.
March 2012: Pediatric Dermatology
Vanessa Mello Tonolli, Hamilton Ometto Stolf, Cláudio Sampieri Tonello, Rafaelle Batistella Pires, Luciana Patricia Fernandes Abbade
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents...
March 2014: Anais Brasileiros de Dermatologia
Yu-Chieh Chen, Teh-Ming Wang, Jiaan-Der Wang
No abstract text is available yet for this article.
November 2015: Journal of Pediatrics
Cécile Picard, Alexandre Belot, Anne Long, Olivier Rouviere, Franck Chotel, Frédérique Dijoud, Antoine Millon, Sophie Collardeau-Frachon
No abstract text is available yet for this article.
November 2015: Journal of Pediatrics
Clemens-Magnus Meier, Rhoikos Furtwaengler
No abstract text is available yet for this article.
February 2015: Journal of Pediatrics
Lakshmi Kannan, Vincent M Figueredo
A 31-year-old male smoker with diabetes mellitus presented to the emergency department with intermittent, exertional chest pain of 4 days' duration. Electrocardiography performed on arrival (Panel A) revealed anterolateral T-wave inversions with biphasic lateral T waves, which raised concern about..
January 1, 2015: New England Journal of Medicine
Karim El-Kersh, Heinz Jungbluth, Paul Gringras, Egambaram Senthilvel
Vici syndrome is a rare congenital multisystem disorder due to recessive mutations in the key autophagy regulator EPG5. Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement. Here we report on a 5-year-old girl who presented with global developmental delay, seizures, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and immunodeficiency with a low CD4 count and recurrent infections...
November 2015: Pediatrics
Meera Subash, Gaurav Patel, John Welker, Kenneth Nugent
Background. Brachial neuritis (BN) is a rare inflammatory condition of peripheral nerves, usually involving the cervicobrachial plexus. These patients present with sudden onset of shoulder and arm pain that evolves into muscle weakness and atrophy.. Case Report. A 33-year-old woman presented with a 1-month history of diffuse pain in her thorax. She had no trauma or inciting incident prior to the onset of this pain and was initially treated for muscle spasms. The patient was seen in the emergency room multiple times and was treated with several courses of antibiotics for pneumonia on the basis of clinical symptoms and abnormal x-rays...
April 2014: Journal of Investigative Medicine High Impact Case Reports
Pieta R Winter, Tinte Itinteang, Phillip Leadbitter, Swee T Tan
UNLABELLED: PHACE syndrome comprises a spectrum of anomalies including posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye anomalies. PHACE should be considered in any patient with a large facial segmental infantile haemangioma (IH), and multidisciplinary management is crucial. Low-dose propranolol is effectively for the treatment of IH associated with PHACE syndrome. Recent evidence suggests IH is comprised of mesoderm-derived haemogenic endothelium...
February 2016: Acta Paediatrica
Nathen J Murawski, Eileen M Moore, Jennifer D Thomas, Edward P Riley
Prenatal alcohol exposure can cause a number of physical, behavioral, cognitive, and neural impairments, collectively known as fetal alcohol spectrum disorders (FASD). This article examines basic research that has been or could be translated into practical applications for the diagnosis or treatment of FASD. Diagnosing FASD continues to be a challenge, but advances are being made at both basic science and clinical levels. These include identification of biomarkers, recognition of subtle facial characteristics of exposure, and examination of the relation between face, brain, and behavior...
2015: Alcohol Research: Current Reviews
K A Scherf, K Brockow, T Biedermann, P Koehler, H Wieser
Wheat-dependent exercise-induced anaphylaxis (WDEIA) is a rare, but potentially severe food allergy exclusively occurring when wheat ingestion is accompanied by augmenting cofactors. It is clinically characterized by anaphylactic reactions ranging from urticaria and angioedema to dyspnoea, hypotension, collapse, and shock. WDEIA usually develops after ingestion of wheat products followed by physical exercise. Other cofactors are acetylsalicylic acid and other non-steroidal anti-inflammatory drugs, alcohol, and infections...
January 2016: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
Omid Zahedi Niaki, Wendy Sissons, Van-Hung Nguyen, Ramin Zargham, Fatemeh Jafarian
Linear atrophoderma of Moulin (LAM) is an acquired skin condition that manifests in early childhood and adolescence. It likely represents a form of cutaneous mosaicism that presents with linear, hyperpigmented and atrophic lesions appearing on the trunk and limbs. Its clinical appearance varies and may closely resemble that of atrophoderma of Pasini and Pierini (APP) and linear scleroderma. LAM usually follows a benign course and no effective treatment options exist. We present a case of a young and healthy patient that developed such lesions on her upper and lower extremities over 5 years...
2015: Pediatric Rheumatology Online Journal
Vinod Kumar
No abstract text is available yet for this article.
September 2015: Journal of Pediatric Ophthalmology and Strabismus
William J Murray, Kevin R Kazacos
The raccoon roundworm, Baylisascaris procyonis, is increasingly recognized as a cause of zoonotic visceral, ocular, and neural larva migrans and, in particular, of devastating encephalitis in young children. Exposure occurs mainly at raccoon latrines, where large numbers of infective eggs may be accidentally ingested. Risk factors for infection include contact with raccoon latrines, pica/geophagia, age of <4 years, and male sex. The severity of central nervous system (CNS) disease depends on the number of eggs ingested, the extent and location of larval migration, and the severity of ensuing inflammation and necrosis...
November 15, 2004: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Riccardo Cavalli, Gregorio P Milani, Cristina Chelleri, Stefano Donelli, Emilio F Fossali
No abstract text is available yet for this article.
December 19, 2015: Lancet
Ramesh Grandhi, Neal Godse, Richard W Williamson, Ricardo A Hanel
No abstract text is available yet for this article.
June 23, 2015: BMJ Case Reports
Arianna Lamberti, Georgios Filippou, Antonella Adinolfi, Michele Fimiani, Pietro Rubegni
Infantile perianal pyramidal protrusion, it is a rare benign cutaneous condition described in relatively recent times. It is considered to be under-reported in the pediatric literature because it is often mistaken for other conditions. The unawareness of this lesion may be responsible for an excessive concern both in physician and in parents, which leads to overly aggressive and unnecessary treatments. Thus its recognition has many implications regarding proper management and treatment. We report a typical presentation of IPPP in which the diagnosis was based on the use of non-invasive diagnostic tools and in particular of dermoscopy and ultrasonography...
April 2015: Dermatology Practical & Conceptual
2015-07-01 14:47:24
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