Proteasome-associated Autoinflammatory Syndrome (PRAAS): aka Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE), Nakajo-Nishimura Syndrome (NNS), or Japanese Autoinflammmatory Syndrome (JMP)

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Acronym:
PRAAS/CANDLE/JMP, also subclasses: PSMB8-PRAAS, PSMB4/PSMB9-PRAAS, PSMA3/PSMB8-PRAAS

SAID group:
Proteasome-Associated Autoinflammatory Syndrome (PRAAS)

Gene:
PSMB8; also PSMB4, PSMB9, PSMA3, POMP [59]

Inheritance:
Autosomal recessive.

Ethnicity:
Unknown. Caucasian, Hispanic, Japanese patients, and one case in South Africa. [27] [60]

Frequency:
Unknown, but rare.

Timing of symptoms:
Chronic-frequent fevers with disease flares. Inflammatory flares and symptoms are often present before the age of 6 months. [26] [27]

Age of onset:
Onset at birth or in infancy. Progressive damage from chronic inflammation noted as the child grows. [26] [27]

Skin cutaneous:
Annular cutaneous plaques with residual purpura. Lipodsystrophy first noted on the face and around joints, and the limbs. Lips swell with flares. Persistently swollen, violaceous (purple-red) eyelids. [26] [27]

Neurologic:
Aseptic meningitis and systemic inflammation. Growth delays are common, with low height and weight. Developmental delays noted. [26] [27]

Auditory:
Some have frequent otitis and/or recurrent sinusitis. [27]

Ophthalamic:
Nodular episcleritis (inflammation on the eye). Conjunctivitis. Keratitis. Periorbital edema. Chronically swollen, violaceous (purple-red) eyelids. [26], [27]

Cardiopulmonary:
Clubbing of the fingers and/or toes. At risk for cardiac arrythmias and dilated cardiomyopathy. [26] [27]

Abdominal:
Diarrhea or loose bowels with flares. Hepatomegaly and splenomegaly (hepatosplenomegaly) with elevated liver enzymes. Delayed or slow growth. At risk for being underweight, or failure to thrive. At risk for multi-organ failure and death. [26], [27] Large abdomen from an enlarged liver and spleen is possible.

Lymphatic:
Splenomegaly, lymphadeopathy. [26], [27]

Joints bones muscles cartilage:
Joint contractures, muscle atrophy, panniculitis induced lipodystrophy, myositis, fatigue and malaise. Inflamed nose and ear cartilage (chondritis). Short stature. Delayed growth in height and weight is common. [26] [27]

Vasculitis:
Not noted. [26] [27]

Amyloidosis:
Not noted. [26] [27]

Abnormal labs:
Hypochromic or normocytic anemia. High CRP, ESR, triglycerides. Some with elevated platelets, TSH, and/or LDL. [26] [27]

Search Keywords:
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