<unk>  was once considered strictly a childhood disease, but adults have been diagnosed with it. The affected tends to range from 4 to 14 years old, with 10 as the median age. As stated above,<unk>  occurs 1:1,000,000 and primarily in girls with a 5:1 ratio. That means out of six million, there will probably be 5 girls and 1 boy with the condition. Majeed syndrome Majeed syndrome is an autoinflammatory disorder consisting of<unk> , congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, two unrelated families with Majeed syndrome have been reported. Mutations in LPIN2 have been found in both families. Here we report a third consanguineous family with Majeed syndrome with a novel mutation. The patient, a 3-year-old Arabic girl, had hepatosplenomegaly and anemia as a neonate. At age 15 months, she developed<unk>  episodes of fever and<unk><unk> . In addition, bone marrow aspiration demonstrated significant dyserythropoiesis (defective red cell formation), suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. A homozygous single-basepair change was detected in the donor splice site of exon 17 (c.2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the cause of Majeed syndrome. Congenital dyserythropoietic anemia and<unk> , uncommon childhood diseases of unknown cause, occurred in three children (two brothers and a female cousin). Their parents are consanguineous, and the clinical course of their illness was similar. The two brothers also had Sweet syndrome. The association of Sweet syndrome with<unk>  and congenital dyserythropoietic anemia in this family suggests that these rare conditions may be interrelated.
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