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Chronic recurrent multifocal osteomyelitis dyserythropoietic
anemia (or Majeed) syndrome
Î SS 218. Majeed syndrome should be suspected in patients presenting
in early childhood with chronic recurrent multifocal osteomyelitis
(CRMO), congenital dyserythropoietic anemia, and dermatosis. (C)
Î SS 219. A variety of anti-inflammatory modalities should be tried in
patients with Majeed syndrome. (C)
Other autoinflammatory syndromes
Î SS 220. Patients presenting with features of H syndrome, including
cardiac anomalies, cutaneous hyperpigmentation, hypertrichosis,
hepatosplenomegaly, short status, and contractures of the fingers and
toes, should be screened for sensorineural hearing loss and insulin-
dependent diabetes. (D)
Î SS 221. CARD14 mutations should be considered in patients with
generalized pustular psoriasis and familial pityriasis rubra pilaris. (C)
Î SS 222. A diagnosis of cherubism should be considered in children
presenting with bilateral, symmetric, painless enlargement of the
cheeks and mandible. (C)
Î SS 223. Patients with inherited atypical cold urticaria should be
studied for phospholipase Cγ2–associated antibody deficiency and
immune dysregulation (PLAID). (C)
Î SS 224. Children with early-onset medium-vessel vasculitis
(polyarteritis nodosa) should be screened for mutations of ADA2. (C)
Î SS 225. Children with early-onset (<4 years of age) inflammatory
bowel disease should be screened for mutations of IL10 or its
receptor. (C)
Î SS 226. Periodic fever with aphthous stomatitis, pharyngitis, and
adenitis (PFAPA) should be suspected in young children presenting
with the characteristic clinical features. (C)
Î SS 227. Initial management of PFAPA syndrome should be with oral
glucocorticoids during acute episodes. (C)
