Transient mid-ventricular ballooning syndrome is a variant form of Takotsubo cardiomyopathy (TTC). The precipitating factors and clinical course are similar, and the clinical manifestations mimic those of acute coronary syndrome, which are characterized by transient left ventricular dysfunction without significant coronary artery disease. Takotsubo cardiomyopathy with transient left bundle bran...

Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...

MYH9-related disorders, previously distinguished in four syndromes (Epstein syndrome, Fechter syndrome, Sebastian syndrome, May-Hegglin anomaly) based on the combination of different clinical findings at the time of diagnosis; appear to be only one rare nosological entity (MYH9RD). It has been recognized that they are all phenotypic variants due to mutation in MYH9 gene (heterozygous pathogenic...

Malignant acanthosis nigricans is a rare paraneoplastic skin syndrome mostly associated with gastric adenocarcinoma. Florid cutaneous papillomatosis and tripe palms syndrome are considered to be abortive clinical variants of acanthosis nigricans. Clinical manifestations include pruritic, hyperkeratotic and hyperpigmented plaques with a subsequent formation of velvety papillomas in the involved ...

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 manifestat...

The aim of the work – to provide variants extrapulmonary manifestations coronavirus disease (COVID-19) based on analysis relevant course in adults. Results. paper presents two clinical cases with manifestation symptoms, which required some individualization therapy. first observation showed that a 56-year-old patient moderate COVID-19, development oxygen dependence 8th day was combined symptoms...

Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially in rare genetic disorders. Here we demonstrate the use of whole exome sequencing (WES) for accur...

Antiphospholipid syndrome is an acquired thrombophilia characterized by venous or artery thrombosis sometimes accompanied by thrombocytopenia in the presence of anti-phospholipid antibodies. The 14th International Antiphos-pholipid Antibodies Congress was combined with the 4th Latin American Congress on Autoimmunity and took place in Rio de Janeiro in September 2013. In this special issue we ha...

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

OBJECTIVES Neurological manifestations seem common in primary Sjögren's syndrome (pSS) but their reported prevalences vary. We investigated the prevalence and epidemiology of neurological manifestations in a French nationwide multicentre prospective cohort of patients with pSS, the Assessment of Systemic Signs and Evolution in Sjögren's syndrome (ASSESS) cohort. METHODS The ASSESS cohort, est...