scholarly journals Cold Induced Sweating Syndrome with Urinary System Anomaly Association

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Salim Aljabari ◽  
Emily Howard ◽  
Todd Bell ◽  
Tetyana L. Vasylyeva
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cytokine Receptor ◽  
Cold Weather ◽  
Facial Features ◽  
High Grade ◽  
Urinary System ◽  
High Grade Fever ◽  
Rare Autosomal Recessive Disorder ◽  
First Case

Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1orCLCF1genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained recurrent episodes of high-grade fever. We are presenting the first case of CISS with urinary system anomaly, which might relate to CRLF1/CLCF1 complex role in the embryonal nephrogenesis.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (1) ◽  
pp. 135-137
Author(s):  
Renata Hubner Frainer ◽  
Luciana Boff de Abreu ◽  
Giselle Martins Pinto ◽  
André Vicente Esteves de Carvalho ◽  
Luana Pizarro Meneghello
Keyword(s):  
Macular Degeneration ◽  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Recognition ◽  
Association Studies ◽  
Autosomal Recessive Disorder ◽  
Macular Dystrophy ◽  
Rare Autosomal Recessive Disorder ◽  
Ocular Defect ◽  
Eye Examination

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.

scholarly journals Multiple Nail Candidosis in a Child with APECED Syndrome

2019 ◽  
Vol 4 (1) ◽  
pp. 01-01
Author(s):  
Chaouche M ◽  
Dah Cherif A ◽  
Barbach Y ◽  
Gallouj S ◽  
Mernissi FZ
Keyword(s):  
Early Childhood ◽  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Tissue Specific ◽  
Rare Autosomal Recessive Disorder ◽  
Mucocutaneous Candidiasis ◽  
Classic Triad ◽  
Autoimmune Polyendocrinopathy ◽  
Dermatological Disorders

The APECED syndrome (autoimmune polyendocrinopathy, candidosis, ectodermal dystrophy) is a rare autosomal recessive disorder that develops in early childhood and results in tissue-specific multiorgan autoimmunity, leading to the hypofunction of multiple glands. Is clinically defined as the presence of at least two components of the classic triad of hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. We report a case in a child, illustrating the importance of dermatological disorders.

scholarly journals A Rare Fungal Infiltration of Lungs in a Healthy Young Girl

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Rajesh Gupta ◽  
Nidhi Goel ◽  
Anupama Gupta ◽  
K. B. Gupta ◽  
Uma Chaudhary ◽  
...  
Keyword(s):  
Broad Spectrum ◽  
Human Disease ◽  
Young Girl ◽  
High Grade ◽  
Healthy Patient ◽  
High Grade Fever ◽  
Cunninghamella Bertholletiae ◽  
First Case ◽  
Pulmonary Infiltration

Cunninghamella bertholletiaeis an opportunistic fungal organism found in soil and is a rare cause of human disease. The few reported cases ofC. bertholletiaehave involved immune compromised hosts. We report a case ofC. bertholletiaein an otherwise healthy patient presenting with persistent high-grade fever and pulmonary infiltration resistant to antibiotics. The organism is isolated through bronchoscopy and responded to broad spectrum antifungal. This is the first case ofC. bertholletiaereported in the literature in an immune competent individual.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran

2016 ◽  
Vol 29 (8) ◽  
Author(s):  
Mahnaz Seifi-Alan ◽  
Roshanak Shamsi ◽  
Aria Setoodeh ◽  
Fatemeh Sayarifard ◽  
Parisa Aghasi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrinopathy

AbstractAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (

Clinical and Microscopic Hair Features of Griscelli Syndrome Associated with Asymmetric Crying Facies in an Infant

2008 ◽  
Vol 11 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Mustafa Akcakus ◽  
Esad Koklu ◽  
Nazmi Narin ◽  
Mehmet Kose
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Partial Albinism ◽  
Griscelli Syndrome ◽  
Depressor Anguli Oris

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by immunodeficiency and partial albinism. Asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Asymmetric crying facies may be isolated or it may be associated with various anomalies. We report a 3-month-old Turkish boy who had clinical and microscopic hair features of GS associated with ACF. To the best of our knowledge, this is the 1st case of this association to be reported in the literature.

scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals Severe Infantile Transaldolase Deficiency

2019 ◽  
pp. 1-5 ◽  
Author(s):  
Khaled Alqoaer ◽  
Ziad Asaad ◽  
Maisa Halabi
Keyword(s):  
Pentose Phosphate Pathway ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Pentose Phosphate ◽  
Early Presentation ◽  
Rare Autosomal Recessive Disorder ◽  
Poor Outcome

Transaldolase TALDO deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALDO deficiency.

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