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Eosinophilic cellulitis, also known as Wells' syndrome (not to be confused with Weil's disease), is a skin disease that presents with painful, red, raised, and warm patches of skin. [2] The rash comes on suddenly, lasts for a few weeks, and often repeatedly comes back. [2] Scar formation does not typically occur. [1]
The syndromes within CAPS overlap clinically, and patients may have features of more than one disorder. In a retrospective cohort of 136 CAPS patients with systemic involvement from 16 countries, [2] the most prevalent clinical features were fever (84% of cases, often with concurrent constitutional symptoms such as fatigue, malaise, mood disorders or failure to thrive), skin rash (either ...
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome.
Mowat–Wilson syndrome; Moyamoya disease; Moynahan syndrome; Muckle–Wells syndrome; Muenke syndrome; Muir–Torre syndrome; Mukamel syndrome; Multiple endocrine neoplasia type 1; Multiple endocrine neoplasia type 2; Multiple evanescent white dot syndrome; Multiple hamartoma syndrome; Multiple organ dysfunction syndrome; Multiple pterygium ...
Hay–Wells syndrome is the result of the invariant mutations of the p63 transcription factor that have been previously identified. Due to the diminished activities of p63, patients can experience a host of symptoms related to the operation of keratinocytes.
Reversible posterior leukoencephalopathy syndrome (RPLS) Posterior reversible encephalopathy syndrome visible on magnetic resonance imaging as multiple cortico-subcortical areas of T2-weighted hyperintense (white) signal involving the occipital and parietal lobes bilaterally and pons. Specialty: Neurology: Symptoms
Omenn syndrome is an autosomal recessive severe combined immunodeficiency. [1] It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome.
Amplified musculoskeletal pain is a syndrome which is a set of characteristic symptoms and signs. Essentially, the syndrome is characterized by diffuse, ongoing, daily pain associated with relatively high levels of incapability and greater care-seeking behavior.