Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome

Abstract

Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures. Prophylactic treatment of Candida infections and prophylactic antimicrobial therapy for staphylococcal skin infections and sinopulmonary infections are essential. An awareness of the oral and maxillofacial features of HIES may facilitate early diagnosis with genetic counselling and may improve future patient care. This study describes oral, dental, and maxillofacial manifestations in 14 patients with genetically defined AD-HIES. We also review the literature and propose recommendations for the complex care of patients with this rare primary immunodeficiency.

Keywords: dentist; hyper-IgE syndrome; intraoral; maxillofacial.

Fig. 1

Facial appearance of patients. All patients above the age of 7 had shown at least partial facial features of AD-HIES. Facial features include coarse face, rough facial skin, prominent forehead, deep-set eyes, increased inter-alar distances, and wide fleshy nasal tip. Of the 14 patients, 9 contributed to having photo documentation

Fig. 2

Oral and dental abnormalities. Patient 3: Dental caries affecting roots of all maxillary premolars (14, 15, 24, 25), root of 12 (right upper second incisor) and tooth 22 (left upper second incisor) mesially. Patient 3: Angular cheilitis on both sides with typical erythematous appearance and fissures in their middle. Patient 5: Lower dentition with tongue frenum in the midline. Root of 73 (left primary tooth No 3) persisting distally from intact permanent canine (33). On the right side between the canine (43) and first premolar (44) there is a first primary molar (84) with occlusal carious lesions. First upper permanent molars (36, 46) are missing from both sides. Patient 6: P2 anomaly and high-arched palate. Mixed dentition containing primary teeth 55, 54, 53 and 63, 64, 65. Caries affecting tooth 64 distally. L1 type lip lesion. Patient 7: Total destruction of both upper first permanent molars together with the present primary teeth. Teeth 65, 52, 62 are missing. Patient 8: Mesial caries on tooth 12 (right upper second incisor) and plaque-induced gingivitis (appearing as marginal linear erythema) in both arches. Second premolars (35, 45), first and second molars (36, 37, 46, 47) are missing on both sides; therefore the margin of the tongue becomes visible. Patient 12: No characteristic palatal lesion, but the patient has got a high arched (gothic) palate. The second right permanent incisor (12) has a carious lesion mesially, 15 is missing and the first left premolar (24) appears as a root

Fig. 3

Intraoral manifestations in the sample