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Oral and Dental Findings of Griscelli Syndrome Type 3

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Oral and Dental Findings of Griscelli Syndrome Type 3 Original Article Case Report Archives of Clinical Arch Clin Exp Surg 2015;4:164-167 Experimental Surgery doi:10.5455/aces.20130226034218 Increased of Langerhans Cells in Smokeless Tobacco-Associated Oral Mucosal Lesions Oral and dental findings of Griscelli syndrome type 3 Ozlem Marti Akgun, Ceyhan Altun, Gunseli Guven Polat, Ceren Yildirim Érica Dorigatti de Ávila1, Rafael Scaf de Molon2, Melaine de Almeida Lawall1, Renata Bianco Consolaro1, Alberto Consolaro1 ABSTRACT Griscelli syndrome (GS) is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and 1Bauru Dental School results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can University of São Paulo resultAbstract from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. Bauru–SP, Brazil Objective: To evaluate the changes in the number of Langerhans Cells (LC) observed in the epithelium of Key words: Griscelli syndrome, microdontia, genetic mutation 2 smokeless tobacco (SLT-induced) lesions. Araraquara Dental School São Paulo State University Methods: Microscopic sections from biopsies carried out in the buccal mucosa of twenty patients, who were Introduction Pathognomonic light and electron microscopic fea- Araraquara-SP, Brazil Griscellichronic userssyndrome of smokeless (GS) was tobacco first (SLT),described were by utilized.tures in For skin the and control hair biopsies group, in twenty GS differentiate non-SLT it users from of SLT with normal mucosa were selected. The sections were studied with routine coloring and were immunostained Received: February 05, 2012 Griscelli in 1978 [1]. It is defined by the characteristic Chediak-Higashi syndrome (CHS), which has simi- Accepted: February 29, 2012 hypopigmentation,for S-100, CD1a, with Ki-67 frequent and p63.pyogenic These infection, data were statisticallylar clinical manifestations.analyzed by the Granulocyte Student’s t-test abnormalities to investigate the Arch Clin Exp Surg 2012;X: X-X hepatosplenomegaly,differences in the neutropenia, expression andof immune thrombocyto markers- inseen normal in Chediak-Higashi mucosa and insyndrome SLT-induced are usually leukoplakia absent lesions. DOI: 10.5455/aces.20120229052919 penia.Results: Very often, There there was is aalso significant impaired differencenatural killer in thein GS. immunolabeling The prognosis ofin all both markers disease betweenentities is normalgrave mucosa cell activity, absent delayed-type hypersensitivity and a but out of 3 types of GS, type 3 has good prognosis [3]. Corresponding author and SLT-induced lesions (p<0.001). The leukoplakia lesions in chronic SLT users demonstrated a significant Érica Dorigatti de Avila poor cell proliferation response to antigenic challenge. Since 1978, when GS was first described in two pa- increase in the number of Langerhans cells and in the absence of epithelial dysplasia. Departamento de Estomatologia This may be caused by the loss of three different genes, tients, more than sixty patients have been described in da Faculdade de Odontologia de eachConclusion: of which has different The increase additional in the effects, number resulting of these thecells literature. represents GS theis very initial rare stage in almost of leukoplakia. all populations, Bauru in threeKey types words: of syndrome. Smokeless Itstobacco, inheritance leukoplakic is autosomal lesions, cancer,although langerhans most cases cells, have chewing been tobacco. reported from Turkish Universidade de São Paulo (USP) recessive and can manifest with silver-gray hair, which and Mediterranean populations [4-6]. Avenida Alameda Octávio may be accompanied by neurological abnormalities In this case report, we present oral and dental fea- Pinheiro Brizola, 9-75, 17012-901 (type 1),Introduction immunodeficiency (type 2), or no other ab- tures andcontact SEM images with of the the hairoral of mucosa a 12-year-old and girl creates a Bauru–SP, Brasil [email protected] normality (type 3) [2]. with GSmore type 3.alkaline environment, its products may Among tobacco users, there is a false be- Author affiliations : Department of Pediatric Dentistry, Center of Dental Sciences, Gulhane Military Medical Academy, Ankara, Turkey Correspondence : Ozlem Martı Akgun, Department of Pediatric Dentistry, Center of Dental evenSciences, Gulhanebe more Military Medical aggressive Academy, Etlik, to Ankara, tissue Turkey [5]. The lief that SLTe-mail: is [email protected] because it is not burned, Receivedwhich / Accepted leads : January many 19, 2013 people / February 26,to 2013 quit cigarettes percentage of SLT users is lower compared and start using SLT [1]. However, SLT con- to cigarette users; however, usage is increasing tains higher concentrations of nicotine than among young individuals and it is therefore a cigarettes and, in addition, nearly 30 carci- significant and disturbing danger [6,7]. nogenic substances, such as tobacco-specific Initial studies on the effects of SLT on the N-nitrosamines (TSNA), which is formed oral mucosa demonstrated the formation of during the aging process of the tobacco, [2-4] white lesions induced by chronic exposure to and which presents high carcinogenic poten- tobacco, characterized by epithelial thicken- tial. Moreover, because the tobacco has direct ing, increased vascularization, collagen altera- Griscelli syndrome 165 Case Report A 12-year-old girl was referred to the Department of Pediatric Dentistry at Gulhane Medical Academy complaining of dental caries. From birth she was not- ed as having silver-gray (leaden) hair and silver-gray eyebrows and eyelashes (Figure 1). Her parents were unrelated and she was their only child. There was no family history associated with this condition. The pa- tient’s physical development was normal. She did not have any complaint relevant to other systems. There was no hepatosplenomegaly or lymphadenopathy. A comprehensive clinical and radiographic evaluation was performed. Extraoral examination showed a con- Figure 3. The panoramic radiograph revealed the absence of a tooth bud for 47, microdontia of 37 and 45, and secondary caries of 46. cave profile with good facial symmetry. Scanning elec- Figure 4. The panoramic radiograph of the patient was taken after 6 years. tron microscopic (SEM) examination of the hair shaft Figure 1. Extraoral appearance of the patient. showed large, unevenly distributed melanin aggregates which were diagnostic of GS (Figure 2). In the oral cavity, we found normal mucosa, a deep- ly arched palate, deficient hygiene, and gingivitis. The panoramic radiograph revealed the absence of a tooth bud for 47, microdontia of 37 and 45, and secondary caries of 46 (Figure 3). All teeth had hypoplastic enam- el. After the permission was received from the parents, the 46 was restored with amalgam. Detailed instruc- tions on maintenance and of oral hygiene were given to the patient and her parents. After four years the patient referred to our clinic complaining of toothache. The periapical radiograph revealed a periodontal abscess around 37 and the tooth was extracted. The patient was followed up for 6 years for the prevention of dental caries, and was called for Figure 2. Scanning electron microscopic (SEM) examination of the hair of the patient. the fluoride application every six months (Figure 4). www.acesjournal.org Archives of Clinical and Experimental Surgery 166 Akgun OM et al. Discussion In conclusion, GS is a rare condition and presents GS is characterized by the occurrence of “accelerat- important dental findings; furthermore, several fa- ed phases” consisting of pancytopenia, hemophagocy- cial abnormalities may be observed. Due to the den- tosis, variable cellular and humoral immunodeficiency, tal hypoplasia, caries susceptibility can be seen in GS elevation of serum triglyceride levels, hypofibrinogen- patients. Patients should be given a good oral hygiene emia and hypoproteinemia, and partial albinism. In GS education. Also, known extra- and intraoral findings of the genetic defects include mutations in either MYO GS may help diagnosis of the patient. 5A or RAB 27A, which are both located on chromo- Conflict of interest statement some 15q21 [7,8]. Dermatologic findings may be lim- The authors have no conflicts of interest to declare. ited to hair, with skin and retinal pigmentation being References occasionally affected. Microscopic examination of hair 1. Griscelli C, Durandy A, Guy-Grand D, Daguillard reveals uneven clusters of aggregated melanin pigment, F, Herzog C, Prunieras M. A syndrome associating accumulated mainly in the medullary area of the shaft. partial albinism and immunodeficiency. Am J Med Neurologic involvement with encephalopathy, hypoto- 1978;65:691-702. nia, raised intra-cranial peripheral facial palsy, pressure, 2. Mathew LG, Cherian T, Sudarshanam A, Korah cerebellar signs, hemiparesis, spasticity, seizures, psy- I, Kumar NK, Raghupathy P. Hemophagocytic chomotor retardation, and progressive neurologic de- lymphohistiocytosis: a case series. Indian
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