Familial eosinophilic cellulitis, dysmorphic habitus, and mental retardation.
BACKGROUND
Eosinophilic cellulitis is a polymorphous, chronic disease characterized by eosinophil infiltration and granulomatous inflammation.


OBJECTIVE
Our purpose was to describe the clinical, histologic, and immunohistologic findings in three family members who have had eosinophilic cellulitis since childhood associated with mental retardation and abnormal body habitus.


METHODS
Family members were evaluated. Multiple skin biopsy specimens were obtained and examined after hematoxylin-and-eosin staining, by immunofluorescence and by electron microscopy. Blood specimens were analyzed by immunoassays for eosinophil granule proteins and eosinophil active cytokines.


RESULTS
Three short-statured, mentally retarded family members with abnormal body habitus in at least two generations had recurrent eosinophilic cellulitis. Peripheral blood and bone marrow eosinophilia was present. Plasma eosinophil granule major basic protein and eosinophil-derived neurotoxin levels were elevated with normal plasma eosinophil cationic protein levels. Eosinophil survival in culture was increased by patients' plasma and was blocked with monoclonal interleukin-5 antibody. The level of plasma interleukin-5 was elevated. Lesional skin biopsy specimens showed massive staining for three eosinophil granule proteins. Electron microscopy showed eosinophil disruption.


CONCLUSIONS
Eosinophilic cellulitis, mental retardation, and abnormal body habitus were likely inherited as a dominant syndrome in this family in which eosinophil involvement was striking.
Davis
M D
MD
Department of Dermatology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
Brown
A C
AC
Blackston
R D
RD
Gaughf
C
C
Peterson
E A
EA
Gleich
G J
GJ
Leiferman
K M
KM
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001798:Blood Proteins / Q000032:analysis; D001827:Body Height; D002481:Cellulitis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D047091:Eosinophil Granule Proteins; D047208:Eosinophil-Derived Neurotoxin; D004802:Eosinophilia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011506:Proteins / Q000032:analysis; D012260:Ribonucleases; D012867:Skin / Q000737:chemistry / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology
D001798:Blood Proteins; D047091:Eosinophil Granule Proteins; D011506:Proteins; D047208:Eosinophil-Derived Neurotoxin; D012260:Ribonucleases