RESUMO
A retrospective assessment of clinical characteristics, complications/ associations, laboratory investigations, treatment modalities and outcome in an inceptional cohort of 22 (male-13) children with juvenile dermatomyositis (JDM) receiving treatment at Jaslok Hospital, Mumbai during 1997- 2012 was performed . Mean age at diagnosis was 7.52 ± 3.99 years. Typical skin rash and muscle weakness were present in all children. Common complications included cutaneous ulcers (27.27%), dysphagia (22.72%) and calcinosis (18.18%).All patients presented with at least one of the serum muscle enzymes elevated. Absence of mortality and cardio-pulmonary complications and a monocyclic course in 72.7% of our patients are at variance from Western series.
RESUMO
Vasculitis is defined as the presence of inflammation in a blood vessel that may occur as a primary process or secondary to an underlying disease. Primary vasculitides are rare in children. These are defined by both the size of vessels involved and the type of inflammatory response. Clinical features consist of multi-organ involvement on a background of constitutional features reflecting the size and location of the blood vessels involved. Whilst some vasculitides are best diagnosed clinically, many forms require sophisticated imaging and other investigations (auto antibodies) to reveal the correct diagnosis. Prompt recognition and treatment is crucial as many of the vasculitides cause significant morbidity or mortality. Treatment options range from symptomatic therapy, immunosuppresive agents, intravenous immunoglobulin (IVIG) or biologic agents and are determined by the type of vasculitis, the severity of the inflammation, and the organ systems affected. Early detection and aggressive treatment is crucial for the best outcomes in the most severe forms of childhood vasculitis.
RESUMO
CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1.This is the first report of this entity from India.