PEDIATRICS Vol. 112 No. 2 August 2003, pp. 487
CLINICAL FINDINGS LEADING TO THE DIAGNOSIS OF X-LINKED AGAMMAGLOBULINEMIA
Scott H. Sicherer, MD
New York, NY
Conley ME, Howard V. J Pediatr. 2002;141:566–571
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Purposes of the Studies.
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Hyper-immunoglobulin E (HIE) syndrome is an immunodeficiency
disorder characterized by recurrent skin abcesses, pneumonia,
elevated serum IgE, and increased incidence of dental abnormalities
(retained primary teeth), bone fractures and scoliosis. X-linked
agammaglobulinemia (XLA) attributable to a mutation in the gene
for Bruton’s tyrosine kinase (BTK) typically results in
recurrent bacterial infections in the first few years of life.
These studies reviewed the clinical features of patients with
these diagnoses and report clinical features that could lead
to earlier diagnosis.
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Study Populations.
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Eight children with hyper-IgE syndrome were identified from
5 pediatric dermatology practices through a retrospective chart
review. Eighty-two patients with clinical features leading to
the diagnosis of XLA, and proven mutations in the BTK gene culled
from 53 institutions were evaluated.
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Methods.
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The clinical history, laboratory results and clinical photographs
were obtained from chart review (hyper-IgE) or from structured
survey forms completed by referring physicians or genetic counselors
(XLA).
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Results.
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The 8 children recruited from dermatology practices had been
evaluated for a papulopustular eruption on the face and scalp
in the first year of life and were not diagnosed with HIE until
an average of 18 months later. Six developed the rash by 1 month
of age and most also developed lesions in the axillae, upper
trunk, extremities and diaper area. Five children later developed
excematous dermatitis, but the initial rash was not consistent
with atopic dermatitis and among 6 who underwent skin biopsy;
an eosinophilic spongiotic dermatitis was observed. At the time
of the eruption, 6 patients had otitis media, pneumonia or unexplained
fevers, 2 had fractures and 7 had persistent peripheral blood
eosinophilia. The mean age of diagnosis for sporadic XLA was
35 months. Fewer that 10% of patients with sporadic XLA were
diagnosed before a hospitalization for infection and 38% were
not diagnosed until after >1 hospitalization. Patients with
more dramatic infections were diagnosed earlier. Most patients
had recurrent otitis media before diagnosis.
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Conclusions.
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A papulopustular eruption with the described features and distribution,
along with additional findings such as early infections, fractures,
and/or eosinophilia, should prompt an evaluation for HIE. Children
with 3 or more episodes of otitis media or sinusitis should
be examined closely and if the tonsils or cervical lymph nodes
are unusually small or absent, serum immunoglobulin levels should
be screened with appropriate referral for additional studies
if they are abnormal.
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Reviewer’s Comments.
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Prompt diagnosis of immunodeficiency disorders allows for earlier
treatment and can prevent sequelae. Knowing the results of these
2 studies will allow pediatricians to increase the chance for
early diagnosis. It must be kept in mind, however, that the
presentations emphasized here are not the only ones that are
possible with these disorders. Vigilance in keeping primary
immunodeficiency disorders on the differential diagnosis of
recurrent, recalcitrant, and unusual infections is key.
PEDIATRICS (ISSN 1098-4275). ©2003 by the American Academy of Pediatrics
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Purposes of the Studies.
Study Populations.
