Hyper-IgE Syndrome Presenting as Abnormal Dentition and Coarse Facies

Madam, Hyper-IgE syndrome (HIES), also known as Job syndrome, is a primary immunodeficiency syndrome characterized by recurrent infection, distinctive facial characteristics, and eczema. It is mostly due to two types of mutations: the STAT3 mutation is inherited autosomal dominantly, whereas the DOCK8 mutation is inherited autosomal recessively.[1] A 14-year-old girl presented to us with complaints of the coarseness of face since infancy. On examination, the face showed multiple pustules along with erythematous to skin-colored crusted papules, frontal and mandibular prominence, high intercanthal distance, and broad depressed nasal bridge and abnormal dentition [Figures 1a, b and 2]. Facial asymmetry was a striking feature. On further questioning, neither the child nor the parents gave any history of recurrent infections. No other family members had a similar history. Thorough investigations were done with the differentials of atopic dermatitis, HIES, Demodex folliculitis, and eosinophilic pustular folliculitis. Serology showed a raised eosinophil count, remarkably raised serum immunoglobulin E level (10,000 KIU/L). Histopathological study showed moderate acanthosis, mild epidermal, and follicular spongiosis with lymphocytic exocytosis and moderate perivascular predominant lymphohistiocytic infiltration with occasional neutrophils [Figure 3a] and an occasional Langerhans cell [Figure 3b, blue arrow]. Dermoscopy revealed white-to-pinkish white structureless areas with surrounding skin showing brown structureless areas [Figure 3c]. The patient was started on amoxicillin and clavulanic acid (500 mg + 125 mg) twice daily for 7 days, along with isotretinoin 20 mg daily for 3 months. Pustules resolved within 10 days and papules and scarring improved within 1 month [Figures 4b and 4b]. By the end of 3 months, the coarseness of the face had drastically improved.Figure 1: (a) Initial presentation of the patient with coarse facies. (b) Complete resolution post treatment at 3 monthsFigure 2: Abnormal dentitionFigure 3: (a) Histopathology showing moderate acanthosis, mild epidermal, and follicular spongiosis with lymphocytic exocytosis and moderate perivascular predominant lymphohistiocytic infiltration with occasional neutrophils. (b) Occasional Langerhans cell. (c) Dermoscopy showing white-to-pinkish white structureless areas with surrounding skin showing brown structureless areasFigure 4: (a) Erythematous papules and pustules along the mandible and neck. (b) Complete resolution posttreatment at 3 monthsHIES is an uncommon and frequently undetected condition with clinical symptoms appearing at a very young age, usually within months after birth. Individuals with HIES are more prone to infections (most commonly Staphylococcus aureus). Treatment involves mainly supportive care. Antimicrobial prophylaxis such as trimethoprim-sulfamethoxazole 2.5 mg/kg twice daily is recommended to prevent S. aureus skin and lung infection. Bleach baths are also very effective.[2] Other treatment modalities tried in this condition are summarized in Table 1.[2-4] Interval radiographic scanning for early diagnosis and control of lung infections and dental and skeletal abnormalities is required in addition to efforts to prevent infections. Vaccination requires special care. Vaccinations, especially live vaccinations, are generally well tolerated; nevertheless, the pneumococcal polysaccharide vaccine may cause severe necrotic responses in such patients.[5]Table 1: Various treatment modalities in hyper-IgE syndromeThe primary point of contact for our patient is a dermatologist owing to the skin eruption as there was no history of recurrent infections. The distinctive facial characteristics and skin eruptions are critical clues in making an early diagnosis to prevent further complications. We report this case for all the dermatologists to be aware of this condition which can present with only facial coarseness and dental abnormalities. Declaration of patient consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) have given their consent for the images and other clinical information of their child to be reported in the journal. The parent (s)/guardian(s) understand that the names and initials of their child will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.