A 13-year-old boy was referred to our clinic to evaluate his ophthalmic symptoms. He received all of his programmed vaccinations on time. He did not have parental consanguinity, and his two siblings were healthy. His symptoms started with postulated ulcers 8 years ago. He mentioned several recurrences of these lesions that caused hospitalization. He also had 4 episodes of feverless pneumonia leads to intravenous antibiotic therapy, which was the last six months ago. He had a history of three lower limb fractures. He pointed out that his vision began to decrease from one year ago. On physical examination, his vital signs were stable. His weight was 30 kg and height 131 cm, which were both under the fifth percentile. Diffuse eczematous exfoliative rashes and discharging ulcerative lesions stood on the face, neck, chest, limbs, and oral and nasal mucosa (Fig. 1). A prominent discharging orifice was observed on his left submental area. Visual acuity was no light perception (NLP) bilaterally. The skin of eyelids was eczematous with telangiectatic vessels and dysmorphic lashes. Severe ulcerative blepharitis and palpebral follicular conjunctivitis were seen in both eyes. Diffuse vertical and horizontal symblepharons were formed in the lower and upper conjunctival fornix of both eyes, and ocular movements were limited. Vigorous corneal conjunctivalization due to spontaneous corneal perforation was observed on the exam. Cornea seemed to be dysmorphic with haziness and deep vascularisation (Fig. 2, A, and B). B-scan showed a phthisic pattern of the posterior segments.
White blood cell count was 9200 × 109 /L with 40.4% neutrophils, 24.7% lymphocytes, 28.7% eosinophils, hemoglobin 10.7 g/dL, and platelet count was 424 × 109/L. Erythrocyte sedimentation rate increased to 24 mm/h and C-reactive protein reached to102 mg/L. Blood biochemistry values were normal. An enzyme-linked immunosorbent assay (ELISA) was performed to quantify immunoglobulins count. Serum IgG, IgA, and IgM levels were in normal ranges, but IgE level significantly increased to 2250 IU (normal range < 250 IU). Nitroblue tetrazolium test, a neutrophil function index, was normal. In immunophenotyping with the flow cytometry, a decrease in T-cell markers (CD2, CD3, CD4, CD5, CD7) was prominent. CD19, CD20, and CD22 were in the normal range, and CD11b, CD13, CD15, CD43 had elevated percentages. CD56, an NK cell marker, had low level than the normal range. CD34 and CD117 were negative. Real-time PCR analysis for STAT3 mutations did not show any mutation in the coding and intronic regions.
Eye discharge culture and blood culture were negative. Skin lesions biopsy showed acanthosis, basketweave appearance, and cell nuclei enlargement that concluded as wart-like plaque lesion; its smear and culture also were positive for Staphylococcus aureus. The culture of dental sinus showed Actinomyces israelii and HSV-1 and HSV-2 were detected in PCR study for oral lesions.
Penicillin G 12 MU/day/IV, amikacin 20 mg/kg/day/IV and acyclovir 10 mg/kg/day/IV were started. Topical erythromycin ointment twice daily, ciprofloxacin ophthalmic droplet every four hours and frequent artificial tear for both eyes and mupirocin ointment for skin lesions were used. After ten days, skin lesions and dental sinus began to get well, and their discharges disappeared. Conjunctivitis and eye discharge also improved. After two months, the skin lesions and the conjunctivitis were resolved (Fig. 2, C, and D), but the visual acuity was yet NLP.