|
 
 |
| CASE REPORT |
|
| Year : 2023 | Volume
: 14
| Issue : 1 | Page : 52-55 |
|
Kindler syndrome and role of dental surgeon: Providing quality oral health care – A case report
CV Srinivedha1, Adity Bansal2, Ashi Chug1
1 Department of Dentistry, Oral and Maxillofacial Surgery, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Department of Dentistry, Oral and Maxillofacial Surgery, All India Institute of Medical Sciences, Deoghar, Jharkhand, India
| Date of Submission | 13-Dec-2022 |
| Date of Decision | 23-Jan-2023 |
| Date of Acceptance | 24-Jan-2023 |
| Date of Web Publication | 18-Mar-2023 |
Correspondence Address:
Dr. Ashi Chug
Department of Dentistry, Oral and Maxillofacial Surgery, All India Institute of Medical Sciences, Virbhadra Road Shivaji Nagar, Near Barrage, Sturida Colony, Rishikesh, Uttarakhand
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/srmjrds.srmjrds_147_22
Introduction: Kindler syndrome is an autosomal recessive disorder with multisystem involvement such as cutaneous, oral, gastrointestinal, and urogenital manifestations. Rationale: Timely diagnosis and management of this syndrome are warranted. The dental surgeon has a prime role in diagnosing the same and halting the progression of gingivitis to periodontitis and referring the patient to appropriate specialists for effective and timely management of the same. Patient Concerns: In this case report, a 17-year-old patient had reported with the chief complaint of spontaneous bleeding from gums and swollen gums since birth, and blackish pigmentation of the skin. Diagnosis: On examination, the patient had poikiloderma, photosensitivity, gingival fragility, and skin atrophy suggesting a diagnosis of Kindler syndrome. Interventions: Oral prophylaxis was done for the patient on several sittings and the patient was on continuous follow-up for 2 years. Dermatology and urology opinions were sought and advice was followed. Outcomes: The patient had complete regression of spontaneous gingival bleeding and oral hygiene had also become satisfactory. Lesson: Prompt diagnosis of the disease with appropriate and early intervention by a dental surgeon could definitely stop the disease progression.
Keywords: Kindler syndrome, oral hygiene, periodontitis
How to cite this article:
Srinivedha C V, Bansal A, Chug A. Kindler syndrome and role of dental surgeon: Providing quality oral health care – A case report. SRM J Res Dent Sci 2023;14:52-5 |
How to cite this URL:
Srinivedha C V, Bansal A, Chug A. Kindler syndrome and role of dental surgeon: Providing quality oral health care – A case report. SRM J Res Dent Sci [serial online] 2023 [cited 2023 Mar 31];14:52-5. Available from: https://www.srmjrds.in/text.asp?2023/14/1/52/372003 |
| Introduction | |  |
Kindler syndrome described by Theresa Kindler in 1954, affects the mucosa and skin. It is an autosomal recessive disorder involving KIND 1 or FERMT 1 gene which starts to depict the classical features from birth and gradually progresses at later ages.[1] The characteristic skin features include spontaneously healing skin blisters, progressive skin atrophy, photosensitivity, and dystrophic nails. The oral manifestations comprise gingival fragility, oral ulcers, periodontitis, and poor oral hygiene.[1] Rarely, the patient might have enamel hypoplasia.[2] The patient may also have ophthalmologic symptoms like conjunctivitis, corneal abrasion gastrointestinal symptoms like esophageal stenosis, and genitourinary manifestations like urethral stenosis.[3] Fischer et al. in 2005, developed a clinical diagnosis with major and minor criteria which is described in [Table 1]. If there are four major criteria, the diagnosis is certain for Kindler syndrome, with two minor criteria diagnosis is probable for Kindler syndrome, and with two associated findings, the diagnosis is likely for Kindler syndrome.[4] The management of this syndrome includes a multidisciplinary approach, with a dermatologist, dentist, urologist, and gastroenterologist. The aim of this case report is to describe a patient with Kindler syndrome with clinical manifestations and to emphasize the role of a dental surgeon in diagnosing this syndrome promptly and halting the further progression of the disease.
| Case Report | | |
Patient information
A 17-year-old male patient reported to the outpatient clinic with a chief complaint of bleeding from gums and swollen gums for the past 7 years. He also had a complaint of blackish pigmentation all over the body, since birth. No relevant past medical history or dental history was observed. The patient did not present with any history of blisters. Recurrent multiple ulcers in the mouth near cheeks, lips, hands, and legs were also reported frequently by the patient. Family history revealed consanguineous marriage of the parents and two out of three siblings (one elder sister and one younger brother) had the same complaint.
Clinical findings
On extra oral examination, the patient had multiple blackish to brownish-colored macules, poikiloderma, atrophic skin, and telangiectasias present over the palmar-plantar surface of the arms, neck, and clavicular region of the body. The patient also had hyperkeratotic palms and soles and wrinkles were present over the fingers of bilateral hands and legs. The patient also had erythema present in bilateral extremities on the exposed site over the ankle and wrist. The same is depicted in [Figure 1]. The patient also had signs of photosensitivity like darkening of the skin tone on exposure to sunlight. | Figure 1: Cutaneous manifestations of the patient with Kindlers syndrome. (a) Photosensitive status, and brownish-black pigmentation over the face. (b) Pigmentation over the neck. (c) Wrinkles over the fingers of the hand, and brownish-black macules over both hands
Click here to view |
On oral examination, the patient had poor oral hygiene, with spontaneous gingival bleeding and gingival hypertrophy. The patient had grade I gingival recession in mandibular central incisors [Figure 2]. Neither any of the teeth was mobile nor was the depth of the periodontal pocket >3 mm in any of the teeth. The panoramic radiograph of the patient revealed no bone loss, hence the periodontitis was ruled out. The patient did not have pain, tenderness, or any areas of pus discharge in the gingiva. The patient also had angular cheilitis, an ulcer in the labial mucosa of the lower lip. The patient did not have any burning sensation. | Figure 2: Intraoral manifestations of the patient at presentation. (a-c) spontaneous gingival bleeding, poor oral hygiene. (d) show ulcer in the lip and angular cheilitis of the lip
Click here to view |
Diagnostic assessment
This patient presented dermatologic findings and oral findings only. The genetic study was not done due to monetary issues. Clinically diagnosis was made since the patient had four major criteria, namely, poikiloderma, photosensitivity, gingival fragility, and skin atrophy. The patient also had dystrophic nails which is an associated finding.
Therapeutic interventions and follow-up
For periodontal management, the patient was advised scaling and root planning which was done in multiple stages. In the first stage, supragingival scaling was done and after 2 weeks, supragingival and subgingival scaling were done for the patient. Then, scaling was done for the patient once in 6 months. The patient was prescribed chlorhexidine mouth rinses twice a day and lignocaine gel over the oral ulcers. The patient was under regular follow-up for 2 years. Spontaneous bleeding from the gingiva got resolved gradually and the oral hygiene status had also become satisfactory which is shown in [Figure 3]. | Figure 3: (a-c) Gingival status and oral hygiene status post 2 years of scaling
Click here to view |
A dermatology consultation was done for the patient and the patient was advised to use SPF 50 sunscreen prevention of sun exposure, constantly hydrate the skin, and regularly moisturize the skin with coconut oil. Skin biopsy and biopsy from the ulcer were not done since the patient and attenders refused.
A urology examination was done for the patient and the patient was advised uroflowmetry, following which no abnormalities were observed. The patient had no complaint with respect to vision and the ophthalmologic examination revealed normal visual acuity, and no ophthalmologic problems were detected.
| Discussion | | |
Genodermatosis is a group of inherited disorders of the skin associated with structure, function, and multisystem involvement. Kindler syndrome is an autosomal recessive genodermatosis that usually starts showing symptoms in childhood. The KIND 1 gene which codes for Kindlin protein affects the basement membrane, thus affecting the integrity of the epidermal-dermal junction.[5]
The diagnosis of Kindler syndrome is very critical and there are many differential diagnoses such as epidermolysis bullosa, weary syndrome, and desquamative gingivitis. Oral findings of Kindler syndrome generally include periodontitis, spontaneous gingival bleeding, early exfoliation of teeth, and erosive lesions in the buccal mucosa, and labial mucosa.[1] There is a reported history of frequent intraoral ulcer and the recurrent bulla formation followed by scarring which could apparently lead to commissure fibrosis and reduced mouth opening.[5] Rapid progression to periodontitis could be due to a deficiency of integrin expression in the basement membrane, as a result of the KINDLIN 1 mutation.[6]
Skin care is very crucial so as to minimize the exposure to the sun, and to minimize the frequency of skin trauma as possible to prevent blister formation. The skin should be kept hydrated so that the progression of poikiloderma can be halted. It is also proven that patients with Kindler syndrome are at increased risk of acquiring squamous cell carcinoma skin or of the oral cavity (at sites of frequent ulceration) since the FERMT 1 gene coding Kindlin protein is involved in transforming growth factor beta expression further affecting adhesion, a stage in carcinogenesis.[5],[7],[8]
The strength of this case report is that it clearly shows when the patient is treated with a simple procedure like scaling with regular long-term follow-up will prevent the progression of the gingivitis to periodontitis and early loss of teeth. The limitation of the case report is that confirmatory genetic testing was not done and no biopsy was done either from the skin or from the ulcer site. The patient should be on a regular follow-up because if the periodontal treatment is not being done at an early stage the patient can progress rapidly to periodontitis.[5] Wiebe et al. had a follow-up of 12 years, Blanchet et al. had a follow-up of 7 years.[2],[9] The dentist has a predominant role in the management of this disease. Management should focus on the proper diagnosis, timely management, and regular follow-up. Periodontal treatment with scaling and root planning along with proper oral hygiene maintenance should be strongly considered. Corticosteroid therapy is also been given in extreme conditions to enhance the overall health of the patient.[5]
| Conclusion | | |
To conclude the management of Kindler syndrome should be symptomatic, palliative, and preventive. The patient should be prevented from any kind of external trauma and the skin should be moisturized frequently. The patient should also refrain from tobacco use in any form since they have an increased risk for malignancy. It is the prime responsibility of a dentist to manage the dental requirements in an early stage to prevent further consequences such as periodontitis and early loss of teeth. Furthermore it is very important that patients should be in continuous dermatological follow-ups since the patients are more predisposed to acquiring carcinomas.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient and legal guardian have given their consent for the patient's 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.
| References | | |
| 1. | Torres-Iberico R, Condori-Fernández Y, Apagüeño-Ruiz C, Andia-Ticona M, Pomar-Morante R. Kindler syndrome: A multidisciplinary management approach. Actas Dermosifiliogr (Engl Ed) 2020;111:775-80.  |
| 2. | Wiebe CB, Petricca G, Häkkinen L, Jiang G, Wu C, Larjava HS. Kindler syndrome and periodontal disease: Review of the literature and a 12-year follow-up case. J Periodontol 2008;79:961-6. |
| 3. | Handa N, Kachhawa D, Jain VK, Rao P, Das A. Kindler's syndrome: A tale of two siblings. Indian J Dermatol 2016;61:468. [ PUBMED] [Full text] |
| 4. | Fischer IA, Kazandjieva J, Vassileva S, Dourmishev A. Kindler syndrome: A case report and proposal for clinical diagnostic criteria. Acta Dermatovenerol Alp Pannonica Adriat 2005;14:61-7. |
| 5. | Barbosa NM, Visioli F, Martins MD, Martins MA, Munerato MC. Oral manifestations in Kindler syndrome: Case report and discussion of literature findings. Spec Care Dentist 2016;36:223-30. |
| 6. | Sari A, Celik S. Periodontal manifestation in a patient with kindler syndrome. Case Rep Dent 2021;2021:6671229. |
| 7. | Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome. In: Adam MP, Everman DB, Mirzaa GM, Pagon AR, Wallae SE, Bean LJ, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK349072/. [Last accessed on 2022 Jan 06]. |
| 8. | Souldi H, Bajja MY, Mahtar M. Kindler syndrome complicated by invasive squamous cell carcinoma of the palate. Eur Ann Otorhinolaryngol Head Neck Dis 2018;135:59-61. |
| 9. | Blanchet I, Tardieu C, Casazza E. Oral care in kindler syndrome: 7-Year follow-up of 2 brothers. J Clin Pediatr Dent 2021;45:41-7. |
[Figure 1], [Figure 2], [Figure 3]
[Table 1]
|
Search Pubmed for