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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 6  |  Issue : 2  |  Page : 93-97

Oculocutaneous albinism and the oral manifestation in a 14-year-old boy - A case report and review of literature


1 Department of Periodontology, H.P. Government Dental College and Hospital-Shimla, Himachal Pradesh, India
2 Department of Public Health Dentistry, H.P. Government Dental College and Hospital-Shimla, Himachal Pradesh, India
3 Department of Orthodontics and Dentofacial Orthopedics, H.P. Government Dental College and Hospital-Shimla, Himachal Pradesh, India
4 Departmant of Dentistry, Dr. Y.S. Parmar Govt. Medical College and Hospital, Nahan, Sirmour, Himachal Pradesh, India

Date of Web Publication6-Dec-2017

Correspondence Address:
Dr. Deepak Sharma
Department of Periodontology, HP Government Dental College and Hospital, Shimla - 171 001, Himachal Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jdas.jdas_22_16

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  Abstract 


Albinism consists of a group of genetically inherited autosomal recessive conditions which are typically characterized by a congenital reduction or absence in melanin pigment biosynthesis which gives the natural color in the skin, iris of the eyes, and hair. A person with albinism may have one or many of the following symptoms: absence of color in the hair, skin, or iris of the eye, lighter than normal skin and hair, patchy, missing skin color, crossed eyes (strabismus), light sensitivity (photophobia), rapid eye movements (nystagmus), vision problems, or functional blindness, severe gingivitis, oral mucosal ulceration, and periodontal disease. A dentist can play a significant role in successfully treating albino patients if he/she has basic knowledge of the symptoms of albinism. We present a case report of a 14-year-old child suffering from oculocutaneous albinism who was reported to the Department of Periodontology, Himachal Pradesh Government Dental College and Hospital, Shimla, Himachal Pradesh, with a chief complaint of bleeding gums and oral malodor.

Keywords: Atrophic glossitis, oculocutaneous albinism, periodontal manifestations


How to cite this article:
Sharma D, Jhingta PK, Bhardwaj VK, Rasila D, Negi N, Vaid S. Oculocutaneous albinism and the oral manifestation in a 14-year-old boy - A case report and review of literature. J Dent Allied Sci 2017;6:93-7

How to cite this URL:
Sharma D, Jhingta PK, Bhardwaj VK, Rasila D, Negi N, Vaid S. Oculocutaneous albinism and the oral manifestation in a 14-year-old boy - A case report and review of literature. J Dent Allied Sci [serial online] 2017 [cited 2021 Dec 2];6:93-7. Available from: https://www.jdas.in/text.asp?2017/6/2/93/219973




  Introduction Top


Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders caused by either a complete lack or a reduction of melanin biosynthesis in the melanocytes resulting in hypopigmentation of the hair, skin, and eyes. The tyrosinase-positive oculocutaneous type of albinism is due to a defect in the “P” gene, a melanosomal tyrosine transporter;[1],[2],[3] it manifests itself as scattered macular pigmentation of unusually white skin.[4]

Ocular manifestations include nystagmus, hypopigmentation of iris, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity and refractive errors, and sometimes a degree of color vision impairment. Photophobia may be prominent.[5],[6],[7],[8],[9],[10],[11],[12],[13],[14]

This report presents a case of a 14–year-old boy suffering from OCA with oral and gingival manifestations.


  Case Report Top


A 14–year-old male child referred from the Department of Dermatology, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, to the Department of Periodontology, Himachal Pradesh Government Dental College and Hospital, Shimla, Himachal Pradesh. He presented with complaints of severe malodor from the mouth, spontaneous bleeding from the gums, and depapillated tongue [Figure 1]. The patient was admitted in the skin department and was undergoing various laboratory investigations to rule out the possibility of the presence of any systemic disease. Retinoscopy showed changes in the retinal vasculature [Figure 2].
Figure 1: Overall facial appearance of the patient

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Figure 2: Retinoscopy showing vascular changes

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The intraoral findings of the patient revealed the presence of 28 permanent teeth with severe plaque deposits as the patient was unable to brush his teeth regularly due to discomfort and spontaneous bleeding from the gums. The marginal gingivae, the interdental gingivae, and the attached gingivae were highly inflamed which corresponded to the diffused gingival enlargement. There was the presence of spontaneous bleeding or bleeding on slightest provocation from the gingivae. The interdental papillae in the anterior maxillary and the anterior mandibular region were pink, smooth, and shiny, whereas the marginal gingivae and the attached gingivae were erythematous [Figure 3]. The tongue was found to be depapillated in the region of the filiform papillae [Figure 4]. The patient had severe halitosis. There was a presence of extreme dryness on the lips, and bilateral angular cheilitis was also prominent [Figure 5]. All the hematological parameters were normal. In consultation with physician, the patient was managed with a comprehensive dental treatment plan. Chemical plaque control with chlorhexidine 0.2% as an adjunct to regular toothbrushing was emphasized. Once the acute symptoms subsided, oral prophylaxis was performed and carious lesions restored. The patient should be kept on periodic recall visits.
Figure 3: Generalized gingivitis

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Figure 4: Atrophic glossitis

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Figure 5: Bilateral angular chelitis

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  Discussion Top


Albinism affects 1 in 20,000 individuals worldwide, but the prevalence of individual subtypes varies among different ethnic backgrounds.[15] It affects people in all races including some Native American populations.[1] The incidence is equal for men and women.[15] OCA1 is the most common subtype found in Caucasians and accounts for about 50% of all cases worldwide,[16],[17] whereas OCA2 or brown OCA is most common in Africa and accounts for about 30% of all cases worldwide.[18] It is estimated to affect 1 in 10,000 to as many as 1 in 1000 in certain populations.[18],[19] This is primarily due to an OCA2 found deletion seen at high frequencies within this population.[19],[20],[21],[22],[23]

OCA, with less or no melanin, is known to be prone to various types of skin cancer, and interestingly, nonmelanoma skin cancers such as squamous cell carcinoma and basal cell carcinoma are reported to be more prevalent than melanoma among the albinos.[24] Based on the occurrence of mutation, OCA is identified as nonsyndromic OCA genes and syndromic OCA. The genes TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for OCA.[25],[26]

The four types of OCA are designated as type 1 (OCA1) to type 4 (OCA4). OCA type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous OCA, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of OCA. Type 4 has signs and symptoms similar to those seen with type 2. Because their features overlap, the four types of OCA are most accurately distinguished by their genetic cause. OCA2 is the most prevalent form worldwide.[27]

People with OCA experience visual impairment, including photophobia, and are highly susceptible to skin damage induced by solar ultraviolet radiation. Sunburn, recognized by erythema and blistering, is the most common acute effect of excessive sun exposure. Individuals with fair skin are at highest risk of sunburn although those with pigmented skin can also experience it.[28]

Albinism is present at birth, and it is usually diagnosed based on the infant's appearance. The most definitive test in determining the albinism type is family history. Genetic sequence analysis is done to find out the type of albinism occurring in family. Some physicians believe that a bleeding time should be obtained in all albino persons. Blood examination is done for determining bleeding time to rule out Hermansky–Pudlak syndrome (HPS) or Chediak–Higashi syndrome (CHS; associated with albinism). If HPS is suspected, bleeding time, platelet aggregation, and platelet electron microscopy are necessary (they have a greater tendency to have bleeding disorders). If CHS is suspected, a hematologist should evaluate polymorphonuclear leukocyte function. Hair bulb assays help to indicate the status of tyrosinase activity (hair bulbs are taken from the scalp). An ophthalmologist should perform an electroretinogram test, which can reveal vision problems related to albinism. A visual-evoked potential test can be very useful when the diagnosis is uncertain.[29]

The other syndromes associated with oculocutaneous syndrome includes  Hermansky-Pudlak syndrome More Details, Chediak–Higashi syndrome, Griscelli syndrome, Prader–Willi syndrome, Angelman syndrome, Waardenburg syndrome type II, Elejalde syndrome, and Cross-McKusick–Breen syndrome. OCA has also been associated with other ocular disorders such as Axenfield's anomaly.

Hermansky-Pudlak syndrome is a rare autosomal recessive disease with a triad of albinism, a hemorrhagic tendency due to a platelet storage pool defect, and a systemic accumulation of ceroid pigments.[30]

Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial OCA, immunodeficiency, mild bleeding tendency, and varying neurologic problems.[31],[32] CHS is caused by mutations in the lysosomal trafficking regulator gene (LYST).[33],[34] The role of the LYST gene in the trafficking of granules results in defective release of melanin or cytolytic enzymes, causing hypopigmentation of the skin and hair as well as cytotoxic defect.[33]

It has been reported that individuals with classical CHS present with persistent and recurrent infections in skin, upper respiratory tract, gastrointestinal tract, and the oral tissues.[35],[36]

Griscelli syndrome is a rare autosomal recessive disorder which results in generalized hypopigmentation of the skin, the hair, the presence of clumps of pigment in the hair shafts, and an accumulation of melanosomes in the melanocytes. It was first reported as an immunodeficiency syndrome associated with partial albinism. The condition is fatal. Recurrent episodes of fever and lymphohistiocytic infiltration of organs lead to hepatosplenomegaly, lymphadenopathy, pancytopenia, and neurological impairment. It was first described by Griscelli and Prunieras in 1978.[37]

Varied dental features have been reported in albinism patients. Enamel hypoplasia has been reported in brothers with OCA in both primary and permanent dentition.[38],[39] In another case of OCA, the patient had an upper maxillary lateral incisor showing features of both dens invaginatus (dens in dente) and dens evaginatus, which is a rare phenomenon.[40] Maurer et al. found that albinos in their study presented with excessive gingival bleeding, epistaxis, and prolonged oozing from cuts and bruises from early childhood.[41] Hattab and Amin reported a case of two brothers with the concurrence of Papillon–Lefevre syndrome and type I OCA.[42] An increased vulnerability to severe periodontitis can be seen in CHS which manifests as early-onset periodontitis on a severe localized or generalized basis with premature exfoliation of both dentitions. Furthermore, severe gingivitis, ulcerations of mucosa, tongue, and hard palate are seen.[43] Wood reported a case of OCA with actinic cheilitis and chronic periodontitis. Anyone who has suffered excessive exposure to the sun can develop actinic cheilitis,[44] but fair-complexioned people, especially people affected with albinism, are particularly at risk.[45]


  Conclusion and Clinical Significance Top


The rare occurrence of this disease calls for a comprehensive therapy to manage this multisystem manifestation. The dentist may be the first health professional to whom albinism with or without syndrome presents. It is important that dentists are aware of the association between these conditions and their medical implications so that appropriate precautions can be taken to ensure that the patient is managed safely. A comprehensive prevention program is of primary importance to avoid the need for invasive dental procedures. Ideally, this should be introduced at an early age. It is essential to adopt a high quality of dental care to prevent the need for dental extractions. Consultation with the hematologist should be considered mandatory before undertaking any invasive dental treatment. Local or systemic measures such as tranexamic acid, hemostatic pack, and sutures should be prepared carefully to reduce the risk of excessive bleeding. Aspirin and other nonsteroidal anti-inflammatory drugs should be avoided, and alternative medication such as paracetamol should be used instead to provide analgesia. The dentist in consultation with the physician should investigate the underlying pathology and should plan a treatment which includes patient education and motivation regarding the condition and maintenance of oral hygiene and periodic recall visits. The patient should regularly visit an ophthalmologist as the primary feature of these diseases includes ocular morbidity, and the patient should also be screened for skin cancer by a dermatologist.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
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