title: Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis.
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.
  
  
  CONCLUSIONS
  This was a retrospective study with a small number of patients.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
authors.forename: Amani
authors.initials: A
authors.lastname: Olaiwan
authors.forename: Marie-Olivia
authors.initials: MO
authors.lastname: Chandesris
authors.forename: Sylvie
authors.initials: S
authors.lastname: Fraitag
authors.forename: Olivier
authors.initials: O
authors.lastname: Lortholary
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Yves
authors.initials: Y
authors.lastname: de Prost
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D025202:Molecular Diagnostic Techniques; D012189:Retrospective Studies; D012871:Skin Diseases / Q000209:etiology; D055815:Young Adult