Volume 4, Issue 3 , Pages 114-117, September 2009
Hypohidrotic ectodermal dysplasia presenting as aural and nasal myiasis
Article Outline
Summary
Hypohidrotic ectodermal dysplasia is a genetic disorder, which has significant manifestations in the ear, nose and throat but could escape detection or may be misdiagnosed due to the rarity of the condition. We present one such rare case of full-blown Christ–Siemens–Touraine syndrome in a female patient who presented to us for the first time with nasal and aural myiasis. When associated with myiasis, these patients are more vulnerable for the complications of both aural cholesteatoma and atrophic rhinitis. Hence the otolaryngologist needs to consider this disorder in the differential diagnosis of simultaneous aural and nasal myiasis.
Keywords: Christ–Siemens–Touraine syndrome, Ectodermal dysplasia, Saddle nose deformity, Atrophic rhinitis, Cholesteatoma
1. Introduction
Hypodermal ectodermal dysplasia (HED) is a hereditary disorder that can affect several ectodermal and a few mesodermal structures. These structures include: skin, hair, nails, teeth, nerve cells, sweat glands, nose, ear, throat, eye and parts of other organs. This genetic disorder may escape detection because it can masquerade other granulomatous conditions of the nose like leprosy and congenital syphilis and also due to its rarity. We present one such rare case of full-blown HED in a female patient who presented to us for the first time with nasal and aural myiasis.
2. Case report
An 11-year-old female child presented to us with repeated episodes of unexplained fever for the past 8 years and a nasal deformity on the dorsum that was observed 1 week after birth. She complained of on and off right ear discharge and earache since the past 5 years, aggravated since 3 months. The discharge was foul smelling, non-blood stained and continuous in nature. There were no complaints of impaired hearing. The patient also complained of worms crawling out of her nose and right ear since 15 days. There was also history of recurrent episodes of mucopurulent foul smelling blood stained nasal discharge for the last 2–3 years. Family history revealed a second degree consanguineous marriage of the parents. However, there were no similar complaints among any of the family members.
On examination of the right ear, live maggots with greenish yellow foul smelling discharge were found in the external auditory canal. The maggots were removed carefully and the ear canal was suction cleaned. The pars tensa was found to be plastered to the promontory. There were two deep retraction pockets leading into the epitympanum. These pockets were filled with cholesteatoma and discharge. The picture in the other ear too was similar, except that there were no maggots. The saddle nose deformity on the nasal dorsum was obvious. Anterior rhinoscopy revealed the presence of live maggots and greenish grey crusts in both the nasal cavities. Ribbon gauze wicks soaked in turpentine oil were inserted in the nasal cavities and the maggots were removed. On douching the nasal cavities, they were found to be roomy with atrophic turbinates and pale pink atrophic mucosa. A large anterior septal perforation connecting the nasal cavities was also visible. Posterior rhinoscopy revealed the atrophic changes in the Eustachian tube openings, the choanae and the roof of the nasopharynx. On examination of the oral cavity, it was seen that the patient had only four teeth in the upper jaw that were conical and pointed (Fig. 1). The lower jaw also had only four teeth. The posterior pharyngeal wall mucosa was atrophic and dry.
Fig. 1.
Front view of the patient with hypohidrotic ectodermal dysplasia.
A general physical examination revealed dry coarse skin, sparse lustreless scalp hair, absent eye brows and sparse thin eyelashes. The lips were thick and everted. Supraorbital ridges were prominent and frontal bossing was obvious. Body hair was completely absent including the axilla and pubic region. Jugulodigastric (JD) nodes were enlarged and non-tender in the neck.
The patient was thoroughly investigated. A complete hemogram was done and found to be within normal limits. VDRL test for syphilis and acid fast staining for leprosy were negative. CT scan of the nose and paranasal sinuses revealed eroded cartilaginous septum, atrophied turbinates, mucosal thickening in bilateral ethmoidal, maxillary and spenoidal sinuses (Fig. 2). Culture and sensitivity of the ear swab revealed Proteus mirabilis while that of the nasal swab revealed Klebsialla species. Pure tone audiometry showed bilateral conductive hearing loss. Fine needle aspiration cytology of the JD nodes revealed reactive lymphadenitis only. She was further investigated with a skin biopsy that revealed markedly reduced eccrine glands with absent dermal appendages (Fig. 3). This confirmed the diagnosis of HED. Biopsy from the inferior turbinate ruled out rhinoscleroma and other granulomatous diseases of the nose. All immediate members of the family were examined and found to be normal.
Fig. 2.
Coronal section of the CT scan of the head showing septal perforation and the disease in the sinuses.
Fig. 3.
Pictomicrograph of the skin biopsy showing atrophic eccrine glands [H&E ×40].
The patient was treated with regular alkaline nasal douches and glucose glycerine packs. The ears were regularly suction cleaned and ofloxacin–dexamethasone–clotrimazole ear drops were applied. As per the culture report, Inj cephotaxime that was effective against both nasal and ear organisms was given in the dose of 0.5
g tid for 3 weeks. She was advised to undergo bilateral mastoid exploration and augmentation rhinoplasty. The patient was referred to other departments for appropriate advice and treatment.
3. Discussion
The incidence of ectodermal dysplasia is estimated to be 0.7–1 per 100,000 births and a large number of these patients present with otolaryngologic manifestations [1], [2]. The two major categories of ectodermal dysplasia initially described by Weech [3] in 1928 are the hidrotic (Clouston syndrome) and the hypohidrotic/anhidrotic Christ–Siemens–Touraine—(CST) forms, the latter being more common. This hypohidrotic/anhidrotic form is inherited as a X-linked recessive trait and is characterized by a triad of deficient seating, deficient teeth and sparse hair growth [4]. Even though HED is most commonly transmitted in a X-linked recessive fashion, autosomal recessive and dominant transmissions do occur [4]. Male patients typically present with the triad, whereas female patients who are the carriers, have traits and present with a minor form of the syndrome [2]. Approximately 70% of the heterozygous females have partial or milder manifestations of the syndrome [5]. Other manifestations in the head and neck include saddle nose deformity; thick protruding everted lips; exodontia or hypodontia; conical teeth; sparse or absent eyebrows, eyelashes and scalp hair; dry skin with eczematous changes and periorbital pigmentation [5]. In one study, 38% of the patients had rhinoliths, 18% of them had a saddle nose deformity and 56% had nasal crusts [6]. A few authors have described ‘Empty nose’ when there was distinct hypoplasia of the turbinates and extensively wide nasal cavities [7]. Heat intolerance in these patients is due to absent or diminished number of sweat glands [5].
In the tropics, these patients can present with repeated episodes of severe form of atrophic rhinitis with or without nasal myiasis. They can also present with atticoantral type of chronic suppurative otitis media with or without complications and aural myiasis. In this disease, the occurrence of advanced cholesteatoma and external auditory canal stenosis has been mentioned before in the literature [8]. The occurrence of otitis media was also found to be frequent in a few previous studies [1], [8], [9] and has been attributed to diminished Eustachian tube function from hypoplastic mucous glands and ciliary dysfunction. The occurrence of hearing loss has been found to be 25% in one study [9].
Even though this genetic disorder starts manifesting itself from birth, many patients especially in the developing countries remain undiagnosed and untreated until adulthood because of a lack of awareness among patients and physicians; they could also be misdiagnosed as leprosy or congenital syphilis. Many patients of the low socioeconomic group of the tropical region seek ENT consultation only when they develop maggots in the nose or ears.
Various tests have been employed for the detection and confirmation of HED. Non-invasive trichogram and sweat testing results can support the diagnosis of HED, but they are not sensitive or highly specific [4]. Horizontally sectioned 4-mm punch biopsy specimens of the scalp or palms that lack eccrine structures are diagnostic of HED [4]. Despite recent advances in the genetic basis of this disorder, the diagnosis is still established clinically in majority of patients since genetic analysis is not routinely available [4].
Management of patients with this disorder is a challenge and will require multidisciplinary approach that involves a general physician or pediatrician, geneticist, dermatologist, ophthalmologist oral and maxillofacial surgeon, prosthodontist, orthopedician and of course the otolaryngologist. Atrophic rhinitis is usually treated conservatively with nasal douches. Cosmetic appearance can be improved with rhinoplasty and otoplasty. Cholesteatoma in the ear requires a canal wall down mastoidectomy and hearing reconstruction. The patient should avoid hot climates and febrile episodes should be treated by cooling the body [10]. Genetic counselling should be offered and attention should be paid to the emotional needs of the patient [10].
4. Conclusion
The full-blown presentation of CST syndrome in a female patient is rare. The diagnosis of HED could be missed due to its rarity and lack of clinical awareness. Such a patient can present with both nasal and aural myiasis especially in the developing countries of the tropical region. When associated with myiasis, these patients are more vulnerable for the complications of both chronic suppurative otitis media and secondary atrophic rhinitis. Early diagnosis and timely advice, counselling and treatment of this uncommon condition could subvert the complications and reduce the morbidity in these high-risk patients. The otolaryngologist needs to consider HED in the differential diagnosis of simultaneous aural and nasal myiasis.
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PII: S1871-4048(08)00067-1
doi:10.1016/j.pedex.2008.09.001
© 2008 Elsevier Ireland Ltd. All rights reserved.
Volume 4, Issue 3 , Pages 114-117, September 2009
