Atypical extensive lupus tumidus‐like eruption as an early presentation of VEXAS syndrome

Author(s):  
Emmanuel Ribereau‐Gayon ◽  
Mael Heiblig ◽  
Estelle Bourbon ◽  
Pierre Sujobert ◽  
Olivier Harou ◽  
...  
2021 ◽  
Vol 77 (18) ◽  
pp. 3058
Author(s):  
Malamo Countouris ◽  
Agnes Koczo ◽  
Harmony Reynolds ◽  
Anais Hausvater ◽  
Suresh Mulukutla ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Njoku Isaac Omoke ◽  
Omolade Ayoola Lasebikan ◽  
Francis Ndubuisi Ahaotu ◽  
Ugochukwu Uzodimma Nnadozie ◽  
Gregory Chinedu Nwigwe

AbstractMachete cut fracture is an important component of morbidity associated with machete injuries although it is under reported. This was a retrospective study to assess machete cut fractures in patients seen in Federal Teaching Hospital Abakaliki and National Orthopaedic Hospital Enugu from 2009 to 2018. There were 91 patients with 154 fractures, male- to- female ratio was 10:1 and mean age was 31.6 ± 14.6 years. The aetiological factors were assault (57, 62.6%), armed robbery (29, 31.9%) and accidental injury (5, 5.5%). The three top bones involved were ulna, metacarpal and finger-phalanx. Fracture was communited in (17, 11.0%), and Gustilo Anderson grade IIIC in (22, 14.3%). Injury to hospital arrival interval later than 6 h was common and correlated with prolonged length of hospital stay (p < 0.001). Anaemia, wound infection and hemorrhagic shock were the three top complications. Nine (5.8%) fractures ended in extremity amputation. Eleven (12.1%) patients left against medical advice, and 5 (5.5%) were transferred. Normal union in 98.3% of the fractures treated and followed up for a minimum of one year. Case fatality rate was 2.2%; none of the patient that died had pre hospital care, and hemorrhagic shock accounted for all the mortality. These call for appropriate injury preventive mechanisms, and improved rates of early presentation of patients to hospital, and pre hospital care.


2012 ◽  
Vol 36 (3) ◽  
pp. 297-300 ◽  
Author(s):  
K Sawaki ◽  
K Mishima ◽  
A Sato ◽  
Y Goda ◽  
A Osugi ◽  
...  

Zimmermann–Laband syndrome is a very rare disorder characterized by gingival fibromatosis, abnormalities of soft cartilages of the nose and/or ears, hypoplastic or absent nails and terminal phalanges, joint hypermobility, hypatoslenomegaly, mild hirsutism and learning difficulties. Early presentation of Zimmer–mann–Laband syndrome in a newborn has rarely been described. This paper describes a newborn patient with Zimmermann–Laband syndrome.


2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.


2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Umair Masood ◽  
Anuj Sharma ◽  
Wajihuddin Syed ◽  
Divey Manocha

A healthy 27-year-old female presented to the hospital after she collapsed an hour into her first marathon run on a hot humid day. On presentation, she was hyperthermic, encephalopathic, tachycardic, and hypotensive. On admission, she was found to have lactic acidosis, rhabdomyolysis, and acute kidney injury and was treated with cold normal saline and cooling blankets. She subsequently started having abdominal pain and bloody bowel movements. Computed tomography of the abdomen revealed ascending colon thickening. Furthermore, her lab findings showed transaminitis and elevated coagulation parameters. Due to the acute hypotensive state from the heat stroke, patient had developed bowel ischemia, ischemic hepatitis, and disseminated intravascular coagulation, all of which are uncommon complications of heat stroke. She was managed aggressively with intravenous fluid hydration with resolution of her symptoms over the course of 4 days. In addition to the uncommon complications, early presentation of this bowel ischemia despite adequate hydration in such a healthy individual is another unique aspect of the case.


Diabetes Care ◽  
1998 ◽  
Vol 21 (1) ◽  
pp. 80-86 ◽  
Author(s):  
N. D. Neufeld ◽  
L. J. Raffel ◽  
C. Landon ◽  
Y. -D. I. Chen ◽  
C. M. Vadheim

2000 ◽  
Vol 6 (2) ◽  
pp. 83-92 ◽  
Author(s):  
Chris Hollis

Schizophrenia is a devastating chronic disorder that typically presents in early adult life and impacts on a broad swathe of social and psychological functioning. It is not surprising that psychiatrists have tended to be circumspect about making this ominous diagnosis in children and adolescents. Genuine concerns about the validity of applying ‘adult’ psychotic diagnoses in this young age group, together with the lack of diagnosis-specific interventions, have suggested a cautious approach to diagnosis. Furthermore, the relative rarity of schizophrenia in this age group has meant that most psychiatrists have relatively little experience with ‘atypical’ early presentation of the disorder.


2011 ◽  
Vol 27 (5) ◽  
pp. S203
Author(s):  
J. Hubacek ◽  
D. Lundberg ◽  
B. Schlosser ◽  
M. Traboulsi

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