Introduction The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestati...

OBJECTIVE To report our experience on a multicentre series of 32 patients with either typical or atypical Cogan's syndrome, to combine our results with a detailed review of the literature, and to compare the clinical manifestations of typical and atypical Cogan's syndrome. METHODS Patients were identified from a survey conducted with physicians affiliated to the French National Society for In...

The antiphospholipid syndrome is an autoimmune disease characterised by recurrent arterial or venous thrombosis, pregnancy morbidity and the persistence of positive antiphospholipid antibodies. Many other clinical manifestations may occur including heart valve disease, livedo reticularis, thrombocytopenia and neurological manifestations such as migraine and seizures. We review a number of other...

The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neuro...

conclusions all clinical findings were directly related to the features described for eds. there are occasions when dentists would be the first health professionals to see these individuals at a young age; knowing the classic signs of eds could help in identifying and managing them properly. introduction this study aimed to elaborate a case with several complications and recommended some sugges...

Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome, which may involve multiple organ systems and shows highly variable clinical manifestations. Oral manifestations, including lesions on hard tissues, enamel hypoplasia and gingival hyperplasia have been previously described. We report a case of 25-year-old woman with this syndrome presenting multiple fibrous nodules on the bucca...

To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was ...

Acute carbon monoxide poisoning can lead to delayed manifestations. This has been called post-interval syndrome, which can present after an apparent period of normalcy following acute poisoning. We are reporting a patient who had an accidental exposure to carbon monoxide and presented later with all the manifestations of delayed poisoning. The various clinical manifestations and imaging finding...

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant syndrome. It also known as Hornstein–Knickenberg inherited disorder culminating in mutations folliculin coding gene (FLCN). The clinical exhibitions of the syn-drome are multi-systemic, comprising a constellation pulmonary, dermatologic and renal system manifestations. most common presentations include fibrofolliculomas, cell carc...