An Infant With Erythroderma, Skin Scaling, Chronic Emesis, and Intractable Diarrhea

Abstract

A 6-week-old Caucasian male was referred for evaluation of generalized pruritic rash, chronic emesis, and intractable diarrhea. He vomited after every feeding and had 5 to 6 loose stools per day. His symptoms did not improve after switching from cow milk formula to an extensively hydrolyzed formula. The family history obtained on admission was ''negative for history of skin disease/eczema.'' Physical examination showed an irritable infant with generalized erythroderma, severe skin scaling, purulent drainage from an ear canal, and crusted eyelids (Figure 1). His white blood cell count was 9900/mm 3 , hemoglobin 8.3 mg/dL, and platelets 605 000/mm 3 , with 31% neutrophils, 33% lymphocytes, 9% monocytes, and 27% eosinophils. The absolute eosinophil count was elevated at 3753 cells/mm 3 . IgG and IgM were within normal limits, but IgE was elevated to 157 kU/L (normal range < 17). Milk-specific IgE was not detected, but the infant's diet was changed to an amino acid-based formula. Lymphocyte subset profile showed a normal percentage of T and B cells. Mitogen response tests were normal. He was diagnosed with otitis externa and started on intravenous broad-spectrum antibiotics. Eye culture grew methicillin-sensitive Staphylococcus aureus (MSSA), and ear culture grew Pseudomonas aeruginosa. Skin biopsy showed psoriasiform dermatitis.

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity

“…The absence of other clinical signs may delay the diagnosis, especially in neonates and infants (Nieves et al, 2004). The presentation ranges from mild eczema to severe generalized erythroderma or other unusual skin manifestations with poor response to steroids (Halabi-Tawil et al, 2009; Redding et al, 2009). Focusing on the neonates and infants presenting erythroderma as single diffuse manifestation of IPEX syndrome at onset, Table 3 summarizes the possible clinical pictures that should be considered for differential diagnosis (Hoeger and Harper, 1998; Fraitag and Bodemer, 2010).…”

Recognizing Gastrointestinal and Hepatic Manifestations of Primary Immunodeficiency Diseases

“…Most patients also presented with or developed a severe rash that is typically described as eczematous. However, bullous pemphigoid (91,94), psoriasiform dermatitis (102,104), and alopecia universalis (102) have also been reported. Other autoimmune manifestations are common, including thyroiditis, hemolytic anemia, thrombocytopenia, and neutropenia.…”

“…Patients with IPEX typically have decreased numbers of Tregs, and those who are present are unable to suppress T-cell proliferation (89). Multiple patients with confirmed IPEX have been reviewed in several case reports and case series (90)(91)(92)(93)(94)(95)(96)(97)(98)(99)(100)(101)(102)(103)(104). The predominant presentation of IPEX is an infant with severe failure to thrive and watery diarrhea that persists despite gut rest.…”