Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis - 12/11/11
Abstract |
Background |
Recent identification of STAT3 mutations in autosomal dominant (AD) hyper-IgE syndrome (HIES) has improved the clinical, genetic, and molecular classification of the HIES.
Objective |
We sought to characterize the cutaneous signs observed in molecularly diagnosed AD-HIES.
Methods |
We conducted a retrospective study of 21 patients with AD-HIES and confirmed STAT3 mutations, treated at Necker-Enfants Malades Hospital, Paris, France.
Results |
A papulopustular rash on the face and scalp before the age of 2 months was observed in 67% of patients. This “early rash” was distinguished from other neonatal pustular eruptions by crusted papules and pustules, rash intensity, and a continuum with chronic dermatitis. An eczematous dermatitis was almost always present before the age of 18 months (95% of patients) and was mainly confined to the face, scalp, chest, and buttocks. All patients presented with infected dermatitis (Staphylococcus aureus) and 59% had chronic candidiasis of the oral mucosa and nails. Cutaneous herpes virus infections were not unusually severe. Coarse facial skin at puberty, and sometimes at a younger age, with prominent follicular ostia resembling atrophoderma vermiculatum was not related to severe acne or facial abscesses.
Limitations |
This was a retrospective study with a small number of patients.
Conclusion |
When associated with serum IgE levels 10 times the age-appropriate level, a neonatal papulopustular rash progressing to a chronic impetiginized eczematous dermatitis that differs from classic atopic dermatitis is highly suggestive of AD-HIES. Early recognition is important for initiation of prophylactic antistaphylococcal and antifungal treatment.
Le texte complet de cet article est disponible en PDF.Key words : autosomal dominant, Buckley syndrome, cutaneous findings, cutaneous signs, hyper-IgE syndrome, Job syndrome, STAT3
Plan
Funding sources: None. |
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Conflicts of interest: None declared. |
Vol 65 - N° 6
P. 1167-1172 - décembre 2011 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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