Term
| Cryopyrin-associated periodic syndromes (CAPS) |
|
Definition
| syn. to autoinflammatory syndromes |
|
|
Term
| Familial cold autoinflammatory syndrome (FCAS) |
|
Definition
| one of autoinflammatory syndromes AD PFS + rash and conjunctivitis precipitated by exposure to cold |
|
|
Term
| Muckle-Wells syndrome (MWS) |
|
Definition
one of autoinflammatory syndromes
AD
CAIS1 defect
Sensorineural deafness and urticaria |
|
|
Term
| Autoinflammatory syndromes, types |
|
Definition
FMF
Hyperimmunoglobulinemia D with recurrent fever (HIDS)
CAPS
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome)
Blau syndrome
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA)
Deficiency of the interleukin-1–receptor antagonist (DIRA) |
|
|
Term
| Autoinflammatory syndromes, pathogenesis |
|
Definition
NLRP3 mutations (encoding cryopyrin)
unregulated production of IL-1 beta
Clinically: Periodic fever syndrome
complications: AA amyloidosis
Rx:
Canakinumab: ab specific for IL-1 beta
Rilonacept: a fusion protein composed of IL-1 receptor and Fc portion of IgG1
Anakinra: IL-1 receptor antagonist |
|
|
Term
| Hyperimmunoglobulin D with recurrent fever (HIDS) |
|
Definition
Periodic fever syndrome +
mouth ulcer and diarrhea
inc. IgD and often IgA
Mevalonate kinase defect, a part of the HMG-CoA reductase pathway (cholesterol synthetic pathway)
Rx: as usual
Statins may help |
|
|
Term
|
Definition
| Acromegaly: hand and foot edema Dengue fever: hand and foot edema and flushing Hand and Foot syndrome: Chemotherapy-induced acral erythema Hand, foot and mouth disease |
|
|
Term
| Hand, foot and mouth disease |
|
Definition
Picornaviridae
febrile illness followed by a maculopapular rash of hands, feet and mouth |
|
|
Term
|
Definition
Picornaviridae
affect sheep, cows
not transmitted to humans |
|
|
Term
|
Definition
Chemotherapy-induced acral erythema:
Capecitabine |
|
|
