Li-Ching Fang, Taiwan
Mackay Memorial Hospital Department of pediatricsPresenter of 1 Presentation
NETHERTON SYNDROME ASSOCIATED WITH HYPOGAMMAGLOBULINEMIA IN IDENTICAL TWINS PRESENTING WITH SEVERE ATOPIC DERMATITIS
Abstract
Background and Aims
Netherton syndrome is an autosomal recessive congenital ichthyosiform dermatitis associated with elevated immunoglobulin E and atopic dermatitis presentation. We report two 8-months-old babies of identical twin brothers presenting with symptoms of Netherton syndromes and also are associated with hypogammaglobulinemia.
Methods
The peripheral blood samples were taken at follow up visits, and sent for isolation of cells and serum. The immunoglobulin levels were enumerated by immunoassay. The specific IgE levels were measured by fluoroenzyme immunoassay (ImmunoCAP kit). The cells were prepared for flow cytometry for calculating subtypes.
Results
Two identical twin brothers were presenting as severe atopic dermatitis-like eczema over whole body since 3-months-old. Since 5-months-old, they had frequent wheezing and upper airway symptoms. Despite failure to thrive, they also had trichorrhexis invaginata of their hairs. The eosinophil counts were 7695 to 15120/uL, about 40 to 46% of white blood cells. The IgE levels were 2086 to 5448 IU/mL. The IgG/A/M levels were less than 200mg/dL, less than 6 mg/dL, and 35 to 53 mg/dL respectively. IgG subclass 1 were low. The complement levels were normal. The CD4 and CD8 T cells, B cells, and CD16/CD56 (NK) cells were all within normal range. The hypogammaglobulinemia had persisted for more than 7 months and the patients were receiving IVIG therapy.
Conclusions
Recurrent sinopulmonary and cutaneous infections had been reported in Netherton syndrome but a true immunodeficiency had not been identified. We reported the twins presenting as typical Netherton syndrome, and a rarely recognized hypogammaglobulinemia.