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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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Year : 2008  |  Volume : 26  |  Issue : 7  |  Page : 118-120

Griscelli syndrome: A case report of Reye's syndrome and atopic dermatitis history

Suleyman Demirel University, Faculty of Dentistry, Department of Pediatric Dentistry Isparta, Turkey

Correspondence Address:
A C Altun
Suleyman Demirel Universitesi Pedodonti AD. Cunur/Isparta
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Source of Support: None, Conflict of Interest: None

PMID: 19127029

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Griscelli syndrome (GS) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), with the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Sixty cases of GS have been reported in the literature, but we could find no description of its oro-dental symptoms. Reye's syndrome (RS) is characterized by acute noninflammatory encephalopathy and renal and hepatic failure, while atopic dermatitis (AD) is a skin disorder with an immunologic basis. The aim of this paper is to describe the oro-dental and physical findings in a girl who had been diagnosed with GS at 3.5 years of age; she also had AD as well as a history of RS at infancy. We discuss the possible relationship between the three syndromes.

Keywords: Dental, Griscelli syndrome, oral, Reye′s syndrome, salicylate

How to cite this article:
Kirzioglu Z, Altun A C. Griscelli syndrome: A case report of Reye's syndrome and atopic dermatitis history. J Indian Soc Pedod Prev Dent 2008;26, Suppl S3:118-20

How to cite this URL:
Kirzioglu Z, Altun A C. Griscelli syndrome: A case report of Reye's syndrome and atopic dermatitis history. J Indian Soc Pedod Prev Dent [serial online] 2008 [cited 2022 Aug 10];26, Suppl S3:118-20. Available from: http://www.jisppd.com/text.asp?2008/26/7/118/44841

   Introduction Top

Griscelli syndrome (GS) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin, silver-gray shiny hair, and an abnormal accumulation of melanosomes in melanocytes. [1] The syndrome has been known for about thirty years and is frequently seen in Mediterranean and Turkish populations. [2] It is caused by mutations in the myosin-VA and/or RAB27A encoding gene. [3] Since the syndrome was first defined, there have been 60 cases described in the literature and 11 of these belong to Turkish population. [4],[5] There have been neither oral nor dental symptoms in scientific papers about this syndrome.

Reye's syndrome (RS) is characterized by acute non-inflammatory encephalopathy, fatty degeneration of liver and renal failure. [6] It is associated with salicylate consumption by children with viral diseases.

Atopic dermatitis (AD) is a chronic inflammatory skin disease that frequently starts during childhood.

The aim of this case report is presentation of oral and dental features of a 3.5-year-old girl with Griscelli Syndrome and atopic dermatitis who had Reye's syndrome history and to discuss possible relationship between her diseases and is an addition to literature.

   Case Report Top

A 3.5-year-old girl was referred to the Department of Pediatric Dentistry, Faculty of Dentistry, Süleyman Demirel University for toothache and nutrition difficulties. From the medical records examined, it was learned that following Reye's syndrome, Griscelli Syndrome and atopic dermatitis had been diagnosed. She was the third of four children and the only affected living sibling. The parents are first-degree relatives.

The medical anamnesis revealed that aspirin was given to the 2-month-old child because of fever and then the child was hospitalized owing to aggravation of febrile convulsion. The medical records revealed that she had been diagnosed to have RS due to salicylate usage during an attack of pneumonia. The patient had a history of frequent attacks of febrile illnesses and had often been treated at home with analgesic/antipyretic suspensions, the details of which are not known. Over the last 2.5 years her health had deteriorated and therefore her parents had hospitalized the child.

At the time of examination the patient was generally comfortable, with no obvious distressing extraoral signs. The child presented with silvery gray scalp hair and eyelashes [Figure 1]. Her upper face was characterized by telecanthus and she had strabismus on the left side. She had a flattened nasal bridge and a wide nasal rim. She had a skeletal lower extremity disorder and a walking problem. Although the girl had obvious ophthalmic problems and suspicious developmental dysplasia of hip, the parent was apparently not aware of these problems. We referred her for specialist consultation for these problems in addition to referral to the concerned departments for her diagnosed systemic and skin disorders. Her previous diagnoses were confirmed.

On intraoral examination, the lips, philtrum, and oral mucosa were normal. There was in evidence of pathological changes on tongue, which appeared to be of normal size. The extent of mouth opening, upper and lower dental arches and palate was normal. There was hyperemia on the marginal gingival and the oral hygiene was poor. The patient had all maxillar and mandibular deciduous teeth with advanced caries lesions [Figure 2],[Figure 3].The restorations and extractions of teeth were done under general anesthesia because of inadequate cooperation. Both the patient and the parent were given detailed instructions on maintenance of oral hygiene and the use of drugs. Follow up clinical and radiographic observations were planned but the patient did not return for check-up.

One year later, the patient was referred to the pediatric dentistry department for severe dental pain. On questioning it became obvious that parents did not follow the dietary recommendations and the child frequently consumed sugar rich snacks. Intra-oral examination revealed periapical abscess of primary maxillary left and right second molars and secondary caries lesions of primary maxillary and mandibular right canines [Figure 4]. For the maintenance of vertical dimension of occlusion, teeth were restored and a partial denture was made. The denture was renewed periodically according to the developmental changes and the results of radiographic evaluation [Figure 5],[Figure 6]. Preventive restorative treatment was applied to permanent maxillary and mandibular first molar teeth. The patient has been followed-up for 4 years now.

   Discussion Top

As a result of pigmentary disorders in GS, silver gray hair, as was seen in our patient, is a typical clinical feature. The main differential diagnoses are the Chediak-Higashi Syndrome, Elejalde Syndrome and  Hermansky-Pudlak syndrome More Details. Deficiency in neutrophils chemotaxis and presence of giant cytoplasmic granules are hallmarks of Chediak-Higashi Syndrome. The syndrome can present with pigmentary dilution as a result of problems in melanocyte and ceratocytes of skin. Elejalde syndrome is associated with hypopigmentation and central nervous system disorders. Hermansky-Pudlak Syndrome is another pigmentary disorder in which platelet dysfunction and bleeding problems are the other manifestations. [2],[7] Light microscope examination of the hair shaft provides reliable evidence in support for Griscelli Syndrome.

The patient shows silver-gray hair in addition to facial and postural abnormalities. These additional anomalies may be associated with genetic mutations due to first-degree consanguinity between the parents. The immune defects seen in this syndrome may increase the risk of caries formation, especially when such patients take a carbohydrate-rich diet.

Although the etiology of Reye's syndrome is not clearly known, [8] it is thought that salicylate consumption by children during viral infection causes viral mutation. Although the number of cases of Reye's syndrome has declined, it is still occasionally seen. Atopic dermatitis is an inflammatory skin disease with an immunologic basis of unknown origin. The etiologies of RS and AD are not completely understood though it is generally believed that genetic factors are involved. [8],[9] Our patient had an autosomal recessive disorder along with immune defects; the presence of other diseases with an immunological basis led us to suspect that these diseases may be associated in some way with GS. A history of Reye's syndrome and of atopic dermatitis may be early warning signs of GS.

To conclude, no specific orodental feature of GS can be defined. It is advisable that patients with GS receive preventive dental care. For prevention of orodental disease it is important that parents of children with systemic problems be informed of the need for early dental consultation.

   References Top

1.Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature. J Am Acad Dermatol 1998;38:295-300.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]
2.Kumar M, Sackey K, Schmalstieg F, Trizna Z, Elghetany T, Alter B. Griscelli syndrome: Rare noenatal syndrome of recurrent hemophagocytosis. J Pediatr Hematol Oncol 2001;23:464-8  Back to cited text no. 2    
3.Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet 131C:75-81  Back to cited text no. 3    
4.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatr 2004;41:944-7  Back to cited text no. 4    
5.Aslan D, Sar? S, Derinφz O, Dalg?η B. Griscelli syndrome: Discribtion of a case with Rab27A mutation. Pediatr Hematol Oncol 2006;23:255-61.  Back to cited text no. 5    
6.Belay ED, Bresee JS, Holman RC, Khan AS, Shahriari A, Schonberger LB. Reye's syndrome in the United States from 1981 through 1997. N Engl J Med 1999;340:1377-82.  Back to cited text no. 6    
7.Duran-McKinster C, Rodrigez-Jurado R, Ridaura C. Elejalde syndrome: A melanolysosomal neurocutaneous syndrome. Arch Dermatol 1999;135:182-6.  Back to cited text no. 7    
8.Schrφr K. Aspirin and Reye syndrome: A review of the evidence. Paediatr Drugs 2007;9:195-204.  Back to cited text no. 8    
9.Elias PM, Steinhoff M. "Outside-to-inside" (and now back to "outside") pathogenic mechanisms in atopic dermatitis. J Invest Dermatol 2008;128:1067-70.  Back to cited text no. 9    


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

This article has been cited by
1 Skin manifestations of immunodeficiencies in children
Torchia, D., Connelly, E.A.
Giornale Italiano di Dermatologia e Venereologia. 2010; 145(2): 269-287


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