ABSTRACT
Figure 22.4 ● Hypogammaglobulinemia ● Histopathologic findings: lymphohistiocytic and eosinophilic infiltration of superficial dermis and lymph nodes
Genetics and pathogenesis
● Autosomal recessive inheritance ● Severe combined immunodeficiency due to identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity
Differential diagnosis
● Netherton syndrome ● Graft versus host disease
● Leiner’s syndrome Follow-up and therapy
The mortality (still very high at 46%) may be reduced when diagnosis is established early and treatment initiated rapidly
● Allogenic bone marrow transplantation ● Cord blood stem cell transplantation
REFERENCES
Aleman K, Noordzij JG, de Grost R, et al. Reviewing Omenn syndrome. Eur J Pediatr 2001; 160:718-25
Pruszkowski A, Bodemer C, Fraitag S, et al. Neonatal and infantile erythrodermas. A retrospective study of 51 patients. Arch Dermatol 2000; 136:875-80
Santagata S, Villa A, Sobacchi C, et al. The genetic and biochemical basis of Omenn syndrome. Immunol Rev 2000; 178:64-74
HYPER IgE SYNDROME
Synonyms
● Hyperimmunoglobulinemia E syndrome ● Job’s syndrome ● Staphylococcal abscess syndrome
Age of onset ● Early infancy
Clinical findings
Cutaneous manifestations ● Atopic-like dermatitis mainly localized on the scalp and flexures (Figure 22.5) ● Recurrent skin infections, including impetigo, furunculosis, paronychia, cellulitis and characteristic abscesses (cold abscesses) (Figure 22.6), warts (Figure 22.7), without warmth, tenderness
Figure 22.5 or erythema occurring mainly on the head and neck
● Mucocutaneous candidiasis
Extracutaneous manifestations ● Recurrent pulmonary bacterial abscesses and pneumonia due to Staphylococcus aureus and Haemophilus influenzae resulting in
pneumatoceles and empyemas ● Distinctive progressive coarsening of the facial features, including facial asymmetry,
prominent forehead, broad nasal bridge, deep-set eyes ● Occasionally dental abnormalities, bone fractures, scoliosis, hyperextensible joints ● Lymphomas
Course and prognosis
In case of prompt diagnosis and treatment the disease may have a chronic course, but death may occur early owing to deep infections.
