Nonsyndromic autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary keratinization disorder in which heat intolerance, pruritus, growth abnormalities, ocular and hearing disorders, and social communication deficits may also arise in addition to skin manifestations.1,2 The clinical course of ear complications has rarely been reported in the literature.3,4

The objective of this study was to determine the type of otologic manifestations present in patients diagnosed with ARCI and currently in follow-up in the Pediatric Dermatology Unit of the University Hospital Son Espases, Spain.

The presence of the following manifestations was studied prospectively: pain, ear pruritus, tinnitis, otitis, wax plug, accumulation of epithelial remnants, and deafness. The medical history included daily hygiene measures, topical treatments or medical-surgical interventions required, and frequency of visits to ear-nose-throat (ENT) specialists. All patients underwent otoscopy and hearing tests (pure tone audiometry [PTA], audiometry with visual reinforcement [AVR], and measurement of distortion products in the audiogram [DPgram]). The auditory results were calculated separately for each ear in decibels (dB). The binaural loudness was quantified using pure tone average, which is used in children and recommended by the Bureau International d’Audiophonologie (BIAP). In children who, given their age, could not perform conventional audiometry, estimates were derived from objective tests (DPgram) and behavioral tests (AVR). In these cases, hearing was considered better than 30dB (although the true hearing could be better) when functional hearing was observed.

The same ENT specialist examined 10 patients, 8 boys and 2 girls, aged between 11 months and 18 years. The underlying molecular deficit was identified in both patients with self-healing collodion baby (TGM1 and ALOX12B) but only in 2 out of 8 patients with skin manifestations of ichthyosis (ALOXE3 and TGM1) (Tables 1 and2). Detailed medical history and the examination performed by the ENT specialist did not reveal otologic symptoms or deafness in either of the 2 cases of self-healing collodion baby. Currently, both have only minimal dermatologic manifestations, although one did have tympanic membrane retraction. All of the remaining 8 children with generalized scaling had some otologic symptom: 8 out of 8 had a history of wax plugs, 6 out of 8 had accumulation of epithelial remnants, 3 out of 8 had ear pruritus, 3 out of 8 had occasional ear pain, 2 out of 8 had otitis, and 1 out of 8 had tinnitus. None of the 8 children used topical ear products daily, only 2 out of 8 cleaned the external auditory canal (EAC) with a cotton wool bud, and 2 out of 8 had been receiving systemic treatment with acitretin for several years. Examination of the EAC of these 8 patients revealed that 2 had wax and epithelial remnants that prevented visualization of the eardrum, 3 out of 8 had scaling with or without wax with normal eardrums, 1 out of 8 had tympanic membrane retraction, and 2 did not have any abnormal findings. The hearing test showed conduction deafness in 2 patients. Ear care, with gradual cleaning and unblocking of the EAC, enabled one patient to regain hearing (case 4, Table 1, Figs. 1 and 2). Of the 10 cases studied, only 3 children had been seen regularly, at least once a year, by an ENT specialist.

Figure 1.

Case 4. A, Collodion baby phenotype at 24hours old. B, Marked ectropion at 3 weeks of age. C, Lamellar ichthyosis phenotype at 4 years of age.

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Figure 2.

Case 4: Hearing test results show basal hypoacusia and reversion after progressive extraction of wax and epithelial remnants that were obstructing the external ear canals.

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Few studies have assessed the type and severity of hearing loss in patients with ARCI. In 2014, Huang et al.4 published the results of surveys of 135 patients with different forms of nonsyndromic ichthyosis performed using the website of the Foundation for Ichthyosis and Related Skin Types. The results showed that 80% had ear pruritus, 66% had hearing loss, 29% had ear pain, 28% had abnormal hearing test results, and 16% used hearing aids. These manifestations were more frequent in adults (77% in respondents>18 years) than in patients under 18 years of age (53%).

Our study is limited by the low number of patients, all under 19 years of age. However, the fact that it is prospective and that all cases were assessed by the same ENT specialist increases the reliability of the results. In our study, all patients with ichthyosis reported at least 1 sign or symptom in their medical history. In 75%, abnormalities were observed in the EAC examination, and 25% had conduction deafness, which in one case could be reversed thanks to the care routine.

In 2014, Hernández-Martín et al.5 conducted a survey of members of the Spanish Ichthyosis Association to investigate the type and name of the specialists who attended patients with ichthyosis. The study showed that most of these patients were treated by physicians with little experience in ichthyosis and that they are not regularly attended by multidisciplinary teams.

It is necessary to implicate ENT specialists in the management of otologic manifestations associated with ichthyosis and their potential complications.6–8 It is essential that the dermatologist and ENT specialist participate jointly in the management of these patients to establish the best therapeutic and preventive measures (daily hygiene routine, most appropriate topical products). More studies are needed to determine the frequency of otologic involvement, the repercussion on quality of life,9,10 and the minimum ideal frequency for visits to the ENT specialist.

The authors declare that they have no conflicts of interest.