Monika Jabłońska-Jesionowska, *Lidia Zawadzka-Głos
Hypohidrotic ectodermal dysplasia as a rare cause of chronic rhinitis in children
Department of Pediatric Otorhinolaryngology, Medical University of Warsaw, Poland
Head of Department: Lidia Zawadzka-Głos, MD, PhD
Introduction. Chronic rhinitis in children may have different causes, both local – with changes being present only in the nasal cavity – or systemic, with nasal congestion as one of the symptoms of a bigger clinical picture.
Aim. The aim of this study was to draw attention to a very rare congenital cause of chronic rhinitis in children – which is hypohidrotic ectodermal dysplasia.
Material and methods. A 6-month-old boy was admitted to the Department of Pediatric Otolaryngology of Warsaw Medical University due to chronic nasal obstruction present from birth. Clinical investigation included anterior and posterior rhinoscopy and fiberoscopy of nasopharynx. The MRI was also performed before admission. Complete blood count, serum iron level, serum thyroid hormones and level of IgG, IgA, IgM were examined to exclude anaemia, ozaena and hypothyroidism. Antinuclear antibodies (ANA) and antineutrophil cytoplasmic antibodies (ANCA) tests were also ordered to exclude granulomatosis with polyangiitis. Next, a mucosal biopsy of the nasal cavity was performed to exclude primary ciliary dyskinesia. Allergic prick tests were also performed.
Results. After genetic tests, hypohidrotic ectodermal dysplasia was diagnosed.
Conclusions. 1. Every case of chronic nasal congestion in children requires not only adequate treatment, but also thorough clinical investigation. 2. Nasal obstruction may be due to local causes, systemic diseases and genetic disorders. 3. Hypohidrotic ectodermal dysplasia is a very rare genetic disorder that causes severe, even life threatening symptoms, one of which is chronic rhinitis.
Chronic rhinitis in children may have different causes, both local – with changes being present only in the nasal cavity – or systemic, with nasal congestion as one of the symptoms of a bigger clinical picture (1, 4, 10). The causes of rhinitis differ with age. In infancy, congenital defects must be taken into account. Adequate nasal patency is important in the life of a child, especially in a newborn, as the inability to breathe through the nose is life threatening for a newborn. It can also cause problems in eating and developmental problems. The primary goal of a physician should be to achieve nasal patency in a child. Effective treatment depends on the correct diagnosis.
The aim of this study was to draw attention to a very rare congenital cause of children chronic rhinitis, which is hypohidrotic ectodermal dysplasia.
MATERIAL AND METHODS
A 6-month-old boy was admitted to the Department of Pediatric Otolaryngology of Warsaw Medical University due to chronic nasal obstruction present from birth. The child had been repeatedly hospitalized in pediatric and otolaryngology wards due to crusting in nasal cavities and drying of nasal discharge. As part of the clinical investigation, a swab from the nose was performed. Staphylococcus aureus MSSA, sensitive to cloxacillin, penicillin inhibitors, cephalosporins, and carbapenems, was cultured. The child had been treated locally by moisturizing, inhalations, nasal lavage with saline, topical Bactroban given periodically with temporary improvement. The nasal cavity was purified mechanically. The article presents diagnostic problems and treatment issues in this patient.
On the day of admission, the following findings in clinical examination were noted: dried discharge in the nasal cavities (fig. 1), complete nasal obstruction, deviation of nasal septum, bifurcated uvula and submucous cleft palate. Moreover, body mass deficiency, increased muscle tension and a slight delay in motor development were observed. The child was still not able to sit unsupported. The boy was under care of a neurologist. MRI of the brain showed no significant changes. In the hospital, differential diagnostic process of local and general causes of chronic rhinitis was performed. The tests for hypothyroidism, ozaena, granulomatosis with polyangiitis were performed. Thyroid hormones and iron levels were within normal limits and complete blood count was normal. Antinuclear antibodies (ANA) and antineutrophil cytoplasmic antibodies (ANCA) were not detected. The results of urinalysis, serum creatinine, liver enzymes were within normal range. There were no pathological findings on chest X-ray. Brain MRI was assessed afresh in order to exclude craniofacial malformations in nose and nasopharynx. The deviation of nasal septum to the left and adenoid hypertrophy were found. Due to adenoid hypertrophy and submucous cleft palate, phoniatric consultation was ordered to assess the risk of palatopharyngeal insufficiency after an adenoidectomy which was considered. Choanal atresia and other malformations, such as meningocerebral hernia or hemangioma, were excluded. Nasal endoscopy in general anesthesia was performed to assess the anatomy of the region. Deviation of nasal septum to the left, adhesion of the septum and the middle nasal concha and a large adenoid were confirmed, and the adhesion was surgically removed (fig. 2). Due to the lack of phoniatric consent, adenoidectomy was not performed. To rule out primary ciliary dyskinesia, the biopsy of the nasal mucosa was taken and examined under electron microscope. The ciliar structure occurred to be correct.
Fig. 1. Massive crusts removed from the nasal cavity
Fig. 2. Adhesion of septum and middle nasal concha in the nasal cavity
Local conservative treatment was continued with no improvement in nasal patency. Surgical treatment was considered. Due to the risk of palatopharyngeal insufficiency, there was no phoniatric consent for adenoidectomy. Septoplasty was contraindicated due to the age of the child. Palatoplasty was not indicated either.
The patient was readmitted to the Otolaryngology Department at the age of 9 months due to a significant nasal obstruction and episodes of decreased oxygen saturation, with minimal saturation being about 90%. The parents reported the necessity for mechanical suction of the nose two to three times a week in the otolaryngology outpatient department. Physical examination revealed crusty, drying nasal secretions and lack of teeth, as well as scarce hair on the head, very scarce eyebrows, dry skin, broad nasal bridge, and slightly slanted eyes. The boy’s weight was still too small for his age and he manifested a slight delay in motor development with the history of recurrent infections of the upper respiratory tract. He was referred to the genetics clinic. Due to the significant reluctance of the parents, who opined that nasal crusting was the child’s only problem, diagnostic process was completed eight months later. After the tests, the diagnosis of hypohidrotic ectodermal dysplasia was made.
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