FAMILIAL EOSINOPHILIC CELLULITIS, DYSMORPHIC HABITUS, AND MENTAL-RETARDATION

Background: Eosinophilic cellulitis is a polymorphous, chronic disease characterized by eosinophil infiltration and granulomatous inflammati on. Objective: Our purpose was to describe the clinical, histologic, a nd immunohistologic findings in three family members who have had eosi nophilic cellulitis since childhood associated with mental retardation and abnormal body habitus. Methods: Family members were evaluated. Mu ltiple skin biopsy specimens were obtained and examined after hematoxy lin-and-eosin staining, by immunofluorescence and by electron microsco py. Blood specimens were analyzed by immunoassays for eosinophil granu le proteins and eosinophil active cytokines. Results: Three short-stat ured, mentally retarded family members with abnormal body habitus in a t least two generations had recurrent eosinophilic cellulitis. Periphe ral blood and bone marrow eosinophilia was present. Plasma eosinophil granule major basic protein and eosinophil-derived neurotoxin levels w ere elevated with normal plasma eosinophil cationic protein levels. Eo sinophil survival in culture was increased by patients' plasma and was blocked with monoclonal interleukin-5 antibody. The level of plasma i nterleukin-5 was elevated. Lesional skin biopsy specimens showed massi ve staining for three eosinophil granule proteins. Electron microscopy showed eosinophil disruption. Conclusion: Eosinophilic cellulitis, me ntal retardation, and abnormal body habitus were likely inherited as a dominant syndrome in this family in which eosinophil involvement was striking.