Sarcoidosis In Children Essay

2089 words - 9 pages

Sarcoidosis is a granulomatous inflammatory condition with multisystem involvement of unestablished etiology. A century has passed by since this condition was first described by Hutchinson, however there still remains a serious lack of awareness regarding this illness amongst the healthcare professionals involved in treating children.
The condition, although more common in the age group of 20 - 45 years, can very well involve children of any age. It is feared that due to lack of awareness and nature of the illness, cases may remain undiagnosed or misdiagnosed. Added to this is the paucity of large scale epidemiological studies in children, that has resulted in underestimation ...view middle of the document...

Clinical manifestations:
Unlike adult form of sarcoidosis, the disease is known to exist in at least two distinct clinical forms in children, depending upon the age at which the disease manifests.
Early onset childhood sarcoidosis is the name given when the disease presents in children less than 5 years of age. It has both sporadic and familial forms. Affected children often present in their first year of life with characteristic triad of skin lesions, uveitis and arthritis and a very few may develop lung lesions subsequently. ‘Blau syndrome’ which is now referred to as ‘Autosomal dominant granulomatous disease‘, is now considered as a familial form of this illness. Genetic mutations involving NOD2 (Nucleotide binding Oligomerization Domain 2) / CARD 15 gene have been identified in these disorders. A small subgroup of early onset disease with severe severe systemic involvement beginning with panniculitis has been described recently.
Late onset childhood sarcoidosis, also known as paediatric onset adult sarcoidosis is comparable to adult form of the illness and is characterised by protean manifestation and multisystem involvement. Early phase of the disease may be dominated by nonspecific constitutional symptoms like fever, malaise, weight loss and fatigue. Multiple organ involvement of varying severity may be seen in these children.
Pulmonary involvement is common with late onset disease and can be associated with varied chest symptoms and auscultatory findings. Asymptomatic pulmonary involvement is not uncommon and cases may get picked up incidentally on a chest radiograph done in a child. Symptoms may be that of dry cough, wheeze, dyspnoea or rarely hemoptysis and airway obstruction. Lung involvement may often be restricted to mediastinal lymphadenopathy or can be associated with parenchymal damage resulting commonly in restrictive interstitial lung disease.
Ocular sarcoidosis is a well known presentation of the illness. Involvement of eyes can be independent of other organ system involvement or precede their onset as an initial manifestation. Symptoms may vary depending on the pathology found in the eyes and may present as pain, redness, blurred vision, photophobia or proptosis. As with lung disease, ocular symptoms may sometimes go undetected for a period of time and this may catastrophically result in complete or partial loss of vision. Anterior uveitis and intermediate uveitis are more common than posterior uveitis. Anterior segment disease may cause granulomatous uveitis, iritis, iridocyclitis and conjunctival granulomas. Typical ‘Mutton-fat’ keratic precipitates may be seen at posterior corneal surface. Choroidal granulomas and vitreous opacities causing “snow ball appearances” may be distinctive features in some patients. Chorioretinitis, panuveitis, eyelid and lacrimal gland infiltration are other ocular manifestations seen. Slit lamp examination must be performed in all suspected cases of sarcoidosis.
Lymphadenopathy may be...

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