|Year : 2016 | Volume
| Issue : 4 | Page : 283-286
Oral manifestations of lamellar ichthyosis: A rare case report
Keerthi K Nair, GS Kodhandram
Department of Oral Medicine and Radiology, SJM Dental College and Hospital, Chitradurga, Karnataka, India
|Date of Web Publication||7-Oct-2016|
Keerthi K Nair
Department of Oral Medicine and Radiology, SJM Dental College and Hospital, Chitradurga, Karnataka
Source of Support: None, Conflict of Interest: None
The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without other systemic manifestations. Lamellar itchthyosis (LI) is a nonsyndromic itchthyosis, which comes under the umbrella of ARCI. Little is only known about the oral manifestations of this disorder. We report a case of LI with oral manifestations.
Keywords: Autosomal recessive congenital ichthyosis, lamellar itchthyosis, nonsyndromic itchthyosis, oral manifestations of itchthyosis
|How to cite this article:|
Nair KK, Kodhandram G S. Oral manifestations of lamellar ichthyosis: A rare case report. Indian J Paediatr Dermatol 2016;17:283-6
|How to cite this URL:|
Nair KK, Kodhandram G S. Oral manifestations of lamellar ichthyosis: A rare case report. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Jul 9];17:283-6. Available from: http://www.ijpd.in/text.asp?2016/17/4/283/184428
| Introduction|| |
Ichthyoses comprise a heterogeneous group of Mendelian disorders of cornification affecting the entire skin and characterized by hyperkeratosis and/or scaling. The genetic basis of almost all ichthyosis forms has been elucidated. In 2009, the worldwide first Ichthyosis Consensus Classification was approved and was based on the clinical presentation and recent pathogenic aspects. It distinguishes basically between nonsyndromic and syndromic ichthyoses. The term autosomal recessive congenital ichthyosis (ARCI) comprises a group of nonsyndromic ichthyoses, which represents the umbrella for harlequin ichthyosis, lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma., Ichthyoses due to keratin mutations are referred to as keratinopathic ichthyosis and include epidermolytic ichthyosis (EI) and superficial EI.
| Case Report|| |
An 11-year-old boy reported to the Department of Oral Medicine and Radiology, SJM Dental College and Hospital, Chitradurga, with the chief complaint of irregularly placed upper front teeth. Patient's parent gave a history of delayed eruption of his milk teeth. The boy was born to a consanguineous couple as a collodion baby. He had generalized scaling since his early infancy and was diagnosed as a case of LI by a dermatologist and had been treated with different moisturizers. No history of similar condition was reported in his family. No ocular, otolaryngeal, and other systemic abnormalities were detected. The patient's IQ and physical growth were within the normal limits. The patient had dry and sparse body hair with scanty eyebrows. On cutaneous examination, there were thick, armor-like brownish polygonal scales covering his whole body surface [Figure 1]a and [Figure 1]b. The scales were prominent on the dorsal surface of hands and legs [Figure 1]c and [Figure 1]d. There was ridging evident on the nails with increased convexity of the nails [Figure 1]e. Mouth opening was slightly reduced with multiple fissures at the corners of the mouth. Intraoral examination revealed a solitary erythematous hyperplastic tissue in the mucogingival junction i.r.t 21 [Figure 2]a and erythematous marginal gingiva with recession i.r.t. 31 [Figure 2]b. Patient had compliments of mixed dentition, i.e. 11, 52, 53, 54, 55, 16, 21, 62, 63, 64, 65, 26, 31, 32, 73, 74, 75, 36, 41, 42, 83, 84, 85, 46. Retained deciduous teeth were present w.r.t. 52 and 62. Angles class I molar relationship was noted on right and left side with cross bite w.r.t. 21 and 31. Mandibular anterior crowding was present. Palatally tilted 21 and labially erupted 31 were noted. A small white fleck with the loss of normal translucency of enamel was noted on the labial aspect of 21. Altered cuspal morphology w.r.t. 16 was present [Figure 2]c,[Figure 2]e,[Figure 2]f. The oral hygiene was satisfactory. Orthopantomogram revealed compliments of mixed dentition and developing permanent dentition [Figure 3].
|Figure 1: (a and b) Thick, armor-like brownish polygonal scales covering whole body surface. (c and d) Scales prominent on the dorsal surface of hands and legs. (e) Evidence of ridging and convexity evident on the nails|
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|Figure 2: (a) A solitary erythematous hyperplastic tissue in the mucogingival junction i.r.t. 21; and (b) Erythematous marginal gingiva with recession i.r.t 31. (c and d) Retained deciduous teeth w.r.t. 52 and 62, a small white fleck with loss of normal translucency of enamel on the labial aspect of palatally tilted 21. Altered cuspal morphology w.r.t. 16. (e and f) Mandibular anterior crowding with labially erupted 31|
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|Figure 3: Orthopantomogram revealing compliments of mixed dentition and developing permanent dentition|
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| Discussion|| |
Ichthyoses are a heterogeneous group of cornification disorders characterized by a generalized scaling of the skin. Ichthyoses have got both inherited and acquired forms. ARCI usually presents at birth, often as a collodion baby. ARCI can progress into any one of the spectra of disorders. Acquired ichthyosis can have a variety of underlying causes including neoplastic, infectious, drugs, endocrine, metabolic, autoimmune, malabsorptive states, and hereditary.
LI is a type of ARCI. It is a rare condition which is estimated to occur in approximately 1 in 300,000 live births and male and female has an equal incidence. Similar to our case 8% of such cases give a history of consanguinity. About 25% of such children born premature and 51% have had similarly affected siblings.
The synonyms of LI include nonbullous congenital ichthyosiform erythroderma (NBCIE), congenital ichthyosiform erythroderma, nonerythrodermic autosomal recessive LI, ichthyosis congenita, and classic LI.
Mutation of key genes involved in different phases of keratinocyte differentiation and further cornification, the process leads to congenital skin disorders such as ichthyosis. Autosomal recessive form of ichthyosis is a rare heterogeneous genetic disease. LI and NBCIE represent phenotypes at the poles of the autosomal recessive ichthyosis spectrum. Till date, seven causative genes for autosomal ARCI have been identified. These include Mutations in genes encoding transglutaminase 1 (TGM1), the ABCA12 transporter, 12(R) lipoxygenase, lipoxygenase 3, NIPAL4, CYP4F22, and PNPLA. Mutations in the TGM1 gene on chromosome 14q11 account for approximately half the cases of LI., Lack of TGM1 activity impairs cross-linking of proteins and lipids in the cornified cell envelope of the upper epidermis and leads to defective cornification and desquamation.,
The severity of symptoms can vary, from the mildest types such as ichthyosis vulgaris which may be mistaken for the normal dry skin up to life-threatening conditions such as harlequin ichthyosis. The most common type of ichthyosis is ichthyosis vulgaris, accounting for more than 95% of cases.,
Patients with LI are typically born encased in a translucent collodion membrane. This membrane get replaced over the first month of life with generalized scale that is accentuated in flexural areas as well as on the forehead and lower extremities.
This condition has been reported to be associated with bilateral ectropion (33%), diminished or absent sweating (10%), seasonal recurrence of the dermatosis in summer (15%) and nail dystrophies (<5%). These children are extra susceptible to systemic infection. Shedding of scales on skin time to time also has been described.
Till date, there is no causative therapy available for this condition. Taking into account the daily effort of the patients, a symptomatic topical therapy can be very effective. The use of emollients remains a cornerstone of treatment for LI. Although the use of keratolytics in children with LI may be limited due to skin irritation and the risk of systemic absorption, special formulations such as 5% lactic acid and 20% propylene glycol in a lipophilic base have been shown to be particularly effective in reducing scale. Topical retinoids and vitamin D3 derivatives may also be helpful, and topical application of the antioxidant Nacetylcysteine was reported to result in marked improvement in an adult woman with LI. Oral retinoids are particularly effective in reducing the amount of scale in LI patients, but this alteration may expose underlying erythroderma.
There is little knowledge about the oral manifestations of this disorder. Oral and dental findings reported in itchthyosis patients included gingivitis, periodontitis, enamel hypoplasia, high caries incidence, delayed primary and secondary eruption, bruxism, bifid teeth, the irregular morphology of teeth, fish mouth appearance, mouth breathing, xerostomia, and hyperkeratotic plaques on the tongue.,,,
Mostly, patients with ichthyosis do not require any modification in dental treatment; however, the dentist should be aware of the concurrent medical problems. There is the possibility of hepatic toxicity with the use of retinoids, which can affect the choice of local anesthetic agents during dental treatment. During dental treatment care must be taken to avoid manipulating the patient's perioral skin since affected areas can be fissured, tender or friable. The affected individual may be at extremely high risk for developing rampant dental decay during early childhood; hence, there may be a requirement of performing the dental treatment under general anesthesia.
| Conclusion|| |
Although little is known about the oral manifestations of LI there are reports in the literature mentioning about its oral involvement. Considering these oral manifestations it is wise to include a dentist in the team of management of these cases once the diagnosis is established.
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Conflicts of Interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]