Clinical Presentation and Diagnosis NLRP12-AID can occur in multiple ethnic groups, sporadically in both children and adults. [musculoskeletalkey.com]

Case Presentation A 39-year-old Caucasian female was essentially healthy until 3 months after the uneventful delivery of her daughter 1 year ago, when she presented with intermittent bouts of cutaneous flushing and diarrhea. [degruyter.com]

Case Presentation History of present illness A 66-year-old white woman presented with unexplained, recurrent episodes of high fever, abdominal pain, rash and arthralgias occurring over the previous three years. [the-rheumatologist.org]

The clinical presentations and their frequencies of the Yao syndrome patients are summarized (Table 2). [amjmed.com]

• Fishing

  A common food that has been associated globally with rhabdomyolysis syndrome is freshwater fish including freshwater cod, barracuda, buffalo fish, and pomfret. However, cases caused by freshwater fish have been relatively rare in China. [weekly.chinacdc.cn]

• Asthmatic Bronchitis

  Hereditary periodic fever syndromes: The patient continued to have episodic fever/chills, abdominal pain/diarrhea, and shortness of breath (asthmatic bronchitis), as well as rash and left knee pain/swelling. [the-rheumatologist.org]

• Palpitations

  Figure 1 Rash: cutaneous flushing on the face and neck, patchy erythema on upper chest and macules The patient reported several episodes of throat closing or spasmatic feeling, palpitations, and constricted breathing during disease flares with normal [degruyter.com]

• Hyperkeratosis

  Erythematous patches and plaques are observed on the chest in (A) and on the face and forehead in (B); spongiotic dermatitis is present (hematoxylin & eosin stain, 20×), demonstrating irregular epidermal hyperplasia with spongiosis with overlying hyperkeratosis [amjmed.com]

• Erythema of the Chest

  Figure 1 Rash: cutaneous flushing on the face and neck, patchy erythema on upper chest and macules The patient reported several episodes of throat closing or spasmatic feeling, palpitations, and constricted breathing during disease flares with normal [degruyter.com]

• Subcutaneous Nodule

  Subcutaneous nodules are common and prominent, but conspicuously absent from our patient.8 Generally, a CT finding of mesenteric panniculitis is a relatively common and nonspecific finding during evaluation of abdominal pain, and can be attributable to [the-rheumatologist.org]

As a result, she visited emergency rooms/clinics frequently, and she was hospitalized several times and underwent extensive multidisciplinary workup in several medical centers. [degruyter.com]

In addition, her illness duration, relapsing and remitting course, and extensive workup made malignancy a less likely etiology. [the-rheumatologist.org]

• Nephrolithiasis

  Nephrolithiasis MedGen UID: 98227 •Concept ID: C0392525 • Disease or Syndrome The presence of calculi (stones) in the kidneys. [ncbi.nlm.nih.gov]

• Colitis

  Genomic analysis of sulfasalazine effect in experimental colitis is consistent primarily with the modulation of NF-kappaB but not PPAR-gamma signaling. [amjmed.com]

• Lymphocytic Infiltrate

  There is superficial perivascular lymphocytic infiltrate in (C), and distal extremity nonpitting swelling can appear, lasting a few days to weeks, usually associated with arthralgia and rash in (D). [amjmed.com]

Glucocorticoids or sulfasalazine may be considered as the first-line treatment option, and interleukin (IL)-1/IL-6 inhibitors may be tried for refractory (difficult/treatment resistant) cases. [fmfandaid.org]

"Research letter: Effectiveness of canakinumab for the treatment of Yao syndrome patients". Journal of the American Academy of Dermatology. doi:10.1016/j.jaad.2019.09.020. ISSN 0190-9622. [en.wikipedia.org]

Research Letter: Effectiveness of Canakinumab for the Treatment of Yao Syndrome Patients. J Am Acad Dermatol. 2019 Sep 18. pii: S0190-9622(19)32757-4. doi: 10.1016/j.jaad.2019.09.020. [ouci.dntb.gov.ua]

Prompt recognition, diagnosis, and treatment of the entity may avoid unnecessary testing, cut medical costs, and improve patient well-being. [amjmed.com]

A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease. Am J Med. 2017;130(3):365 e13- e18. [5]McDonald C, et al. [ard.bmj.com]

PMID: 27984003 Prognosis Trueb B, Zhuang L, Keller I, Köckritz LV, Kuchen S, Dufour JF, Villiger PM J Clin Rheumatol 2021 Dec 1;27(8S):S592-S594. doi: 10.1097/RHU.0000000000000963. [ncbi.nlm.nih.gov]

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling. [mayocliniclabs.com]

While the clinical phenotypes and genotypes of Yao syndrome have been well characterized,, a systematic analysis of the therapeutic strategy, regimen, and prognosis of the disease has yet to be conducted. [amjmed.com]

Treatment Most patients with HIDS have a normal lifespan and carry a good prognosis. However, if the attacks are frequent and severe, the quality of life will be significantly affected. [musculoskeletalkey.com]

To date few periodic syndromes remain of unknown origin like PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis and adenitis), characterized by periodic fever attacks with early onset, of non-infective origin, with benign prognosis in the [ijponline.biomedcentral.com]

At present, the etiology and pathogenes is of food-borne rhabdomyolysis syndrome are not clear. To prevent the recurrence of similar events, the following suggestions should be considered. [weekly.chinacdc.cn]

Keratoconjunctivitis sicca Pericarditis Skin rash Abnormality of the musculoskeletal system Arthritis Abnormality of the respiratory system Pleuritis Constitutional symptom Abdominal pain Arthralgia Chest pain Myalgia Growth abnormality Weight loss Etiology [ncbi.nlm.nih.gov]

Routine and specific tests for bacterial and viral etiology, as well as imaging studies, did not reveal any infection. [the-rheumatologist.org]

Reappearance of the dyspnea after discontinuation of prednisone prompted a diagnosis of pneumonitis of unclear etiology requiring home oxygenation. [atsjournals.org]

The etiologies for fever of unknown origin, for instance, rheumatic diseases, infection, and malignancy, should also be considered and excluded based upon their specific clinical features [11]. [musculoskeletalkey.com]

Chinese Field Epidemiology Training Program, China CDC, Beijing, China 3. Guangxi Zhuang Autonomous Region Center for Disease Control and prevention, Nanning, Guangxi, China 4. Western China Field Epidemiological Training Program, Beijing, China 5. [weekly.chinacdc.cn]

Epidemiological data about inflammatory diseases are poor; generally they are quite rare diseases. No gender prevalence has been described; only some reports recorded mild predominance in males for FMF [6]. [ijponline.biomedcentral.com]

TNF Receptor-Associated Periodic Fever Syndrome Pathophysiology TRAPS is caused by mutations in the TNFRSF1A gene in chromosome 12p13 which encodes the 55-kD, the TNF receptor 1 (TNFR1) for TNF-α. [musculoskeletalkey.com]

Selected Publications Yao Syndrome by Yao Q: Pathophysiology, Diagnosis, and Management. Book: Autoinflammatory Syndromes edited by Petros Efthimiou, Springer, 2019. Autoinflammatory diseases by Shen M, Wu D and Yao Q. [renaissance.stonybrookmedicine.edu]

Nevertheless, these data suggest that both Yao syndrome and asthma could share certain pathophysiologic mechanisms. [amjmed.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Autoinflammatory disorders include several monogenic defects associated with abnormal activation of the innate immune system [mayocliniclabs.com]

To prevent the recurrence of similar events, the following suggestions should be considered. [weekly.chinacdc.cn]

In FMF patients with amyloidosis, colchicine could prevent the progression of nephrotic syndrome. [musculoskeletalkey.com]

It greatly reduces the frequency and intensity of clinical attacks and prevents the development of renal amyloidosis. In adults the dose is 1 mg/day. [ijponline.biomedcentral.com]