Childhood sarcoidosis: A case report

Author(s):  
Phuong Anh Le Thi

Childhood sarcoidosis is a rare multisystemic granulomatous disorder of unknown etiology. The diagnosis is often delayed due to lacking of recognition of clinical features. We report a 23 month-old boy who presented with multiple pinkish papules and painless cystic swellings in his ankles and wrists. A skin biopsy showed multiple sarcoidal granulomatous lesions. He was treated with steroids and had a good response. Childhood sarcoidosis is characterized by arthritis, uveitis, and cutaneous involvement. Glucocorticoids remain the first choice therapy for children with multisystem involvement. The prognosis of early-onset childhood sarcoidosis varies in different studies due to the rarity of the disease.

2020 ◽  
pp. 106-109
Author(s):  
Anh Le Thy Phuong

Childhood sarcoidosis is an uncommon disease and recognition of this disease in children is often delayed because of the lack of awareness and unfamiliarity with its clinical features. With the aim of providing clues for diagnosis and treatment of disease, we reported a a 23-month-old boy hospitalized for multiple pinkish papules  and painless cystic swellings in ankles and wrists, diagnosed with sarcoidosis, treated with corticosteroid and well recovered. This case reminds us to include childhood sarcoidosis in the differential diagnosis in pediatric patients who present with multiple papular eruptions along with systemic manifestations. It is characterized by arthritis, uveitis, and cutaneous involvement. The prognosis of early-onset childhood sarcoidosis varies in different studies due to the rarity of the disease. The treatment of choice in systemic involvement of childhood sarcoidosis is corticosteroids. Key words: sarcoidosis in children, childhood sarcoidosis, granulomatous disorder, arthritis, uveitis.


2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Sheetal Sharda ◽  
Inusha Panigrahi ◽  
Ram Kumar Marwaha

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.


2013 ◽  
Vol 17 (4) ◽  
pp. 287-290 ◽  
Author(s):  
Caridad Vera ◽  
Deana Funaro ◽  
Danielle Bouffard

Background: Sarcoidosis is a multisystemic disorder of unknown etiology that can affect multiple organs, including the lungs, skin, and eyes. Vulvar sarcoidosis has anecdotally been reported. Objective: The aim of this article is to describe a case of vulvar sarcoidosis and review the few cases that have been reported. Methods: We report the case of a 39-year-old woman who presented to the dermatologist with a 2-year history of vulvar pruritus. Results: Examination revealed infiltrated plaques on the vulva and perianal region. The biopsy demonstrated well-defined, nonnecrotizing granulomas in the dermis. Further investigation revealed hilar adenopathy consistent with sarcoidosis. The patient responded well to topical corticosteroids. Conclusion: In the presence of granulomatous lesions of the genital region, infectious causes, foreign body reaction, Crohn disease, and sarcoidosis should be part of the differential diagnosis.


2021 ◽  
Vol 12 ◽  
Author(s):  
Milica Miladinovic ◽  
Boris Wittekindt ◽  
Sebastian Fischer ◽  
Elise Gradhand ◽  
Steffen Kunzmann ◽  
...  

Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 24 patients with CGD who became symptomatic during the first six weeks of life. Although pulmonary complications and skin lesions due to infection were the leading symptoms, clinical features were extremely heterogenous. As follow-up was not well specified in most patients, the long-term prognosis of children with very early onset of CGD remains unknown.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Y. R. L. Tan ◽  
C.-T. C. Chow ◽  
I. Ganesan ◽  
H. M. E. Leow

Abstract Background Kawasaki Disease (KD) is a self-limiting vasculitis of unknown etiology. Although there are well-recognized clinical features associated with classic KD, there have been increasing numbers of atypical clinical presentations with increased dependence on the American Heart Association diagnostic algorithm for incomplete KD. Case presentation We report on a child who was initially treated for Escherichia coli left pyelonephritis and Influenza A and Rhinovirus / Enterovirus upper respiratory tract infection. The child developed an acute hydrocele and a maculopapular rash during the illness course, which prompted further evaluation for concomitant atypical KD, although there were no other physical signs suggestive of classic KD at the time. Subsequent diagnosis of atypical KD was made with confirmation on echocardiography, with timely administration of intravenous immunoglobulin. Conclusions Although there are well recognized clinical features associated with classic Kawasaki Disease, there have been increasing numbers of atypical clinical presentations with increased dependence on the American Heart Association diagnostic algorithm for incomplete Kawasaki Disease. This case report highlights the importance of considering a diagnosis of KD in a child with prolonged fever and unexplainable symptoms suggestive of inflammation, in this case, the rare presentation of an acute hydrocele. We recommend that for any child with prolonged unexplained fever, Kawasaki Disease should be considered. Trial registration Not applicable.


2021 ◽  
Vol 8 (2) ◽  
pp. 136-139
Author(s):  
Nang Hseng Kyio ◽  
Tugce Kıran ◽  
Ali Eser ◽  
Guven Cetin ◽  
Cumali Karatoprak

Objective: Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis of unknown etiology. It is a multisystemic disease that can involve bones, skin, brain, retroperitoneum, cardiovascular system, endocrine system, and lungs. Diagnosis is made by clinical findings, imaging results, and histopathological examination. BRAFV600E (B-rapidly accelerated fibrosarcoma gene) mutation is found in more than half of the cases. When Erdheim-Chester disease is not considered the differential diagnosis, it is not possible to diagnose and treat. In this case report, an Erdheim-Chester case with symptomatic, multisystem involvement, BRAFV600E mutation, and initiated vemurafenib treatment is presented in the light of literature data.


Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.


2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Takashi Matsushita ◽  
Tomoyasu Kumano ◽  
Kazuhiko Takehara

Primary cutaneous follicle center lymphoma (PCFCL) accounts for the majority of primary cutaneous B-cell lymphomas. We report a 60-year-old womanwith PCFCL. She had a red nodule (25 × 25 mm) on the right side of the lower jaw. She was diagnosed with PCFCL by skin biopsy. And then, she was treated with radiation therapy (total 30.6 Gy), which completely eliminated the nodule. Our case suggests that radiation therapy may be a first choice for PCFCL patients with a solitary lesion or localized lesions.    


2020 ◽  
Vol 31 ◽  
pp. S52-S53
Author(s):  
W.R. Chae ◽  
M. Fuentes Casan ◽  
F. Gutknecht ◽  
A. Ljubez ◽  
S.M. Gold ◽  
...  

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