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CASE REPORT
Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 72-74

A case of silvery hair syndrome: Griscelli syndrome


Department of Pediatrics, Institute of Child Health, Kolkata, West Bengal, India

Date of Web Publication9-Apr-2015

Correspondence Address:
Priti Khemka
22/A, Brindabon Bose Lane, Kolkata 700 006, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.152126

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  Abstract 

Chediak-Higashi syndrome, Griscelli syndrome (GS) and Elejalde disease are rare autosomal recessive disorders known as "silvery hair syndromes." Here, we describe a case of a 7-year-old girl with bronze skin and silvery hair, diagnosed as GS. Three genetic types of GS are known. Pigmentary dilution is common to all three and is the only finding in Griscelli Type 3. Type 1 is associated with neurological problems and Type 2 with immunodeficiency.

Keywords: Genetic disorder, Griscelli syndrome, hypopigmentation, silvery hair syndrome


How to cite this article:
Khemka P, Kundu R, Niyogi P, Tudu J. A case of silvery hair syndrome: Griscelli syndrome. Indian J Paediatr Dermatol 2015;16:72-4

How to cite this URL:
Khemka P, Kundu R, Niyogi P, Tudu J. A case of silvery hair syndrome: Griscelli syndrome. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Jan 28];16:72-4. Available from: http://www.ijpd.in/text.asp?2015/16/2/72/152126


  Introduction Top


Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS) and Elejalde disease (ED) are rare autosomal recessive disorders known as "silvery hair syndromes." They share many common features like pigmentary dilution, silvery hair, neurological problems and immunological defects. [1],[2],[3],[4] Here, we describe a case of a 7-year-old girl who came for evaluation of fever and was noted to have bronze skin and silvery hair and subsequently diagnosed as GS.


  Case report Top


A 7-year-old girl was admitted with intermittent fever for 1-month with no weight loss, anorexia or other constitutional symptoms. General examination revealed generalized bronze coloration of the skin and silvery eyelashes, scalp and body hair [Figure 1]. She was extremely fair at birth and had developed gradual darkening of the skin. She was the second child of nonconsanguineous parents, and no other family member had fair skin and silvery hair. She did not suffer from recurrent infections, neurological or visual problems. Developmental milestones were normal. Her anthropometric parameters were within normal limits. She had an otherwise normal general and systemic examination.
Figure 1: Seven-year-old girl with bronze skin, silvery hair and eyelashes

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Blood counts and differentials were normal, blood and urine cultures were negative. Other routine biochemical, pathological and radiological tests were also normal, and no obvious cause of fever could be ascertained. Meanwhile, broad spectrum antibiotics were started, and she became afebrile within 2 days. Her silvery hair and bronze skin appearance made us suspect a case of silvery hair syndrome. Accordingly, we did a hair microscopy that showed large clumped melanosomes mostly in the medulla of the hair shaft [Figure 2]. Skin biopsy showed hyperpigmented basal melanocytes [Figure 3]. We re-examined the peripheral blood smear thoroughly, but no inclusions were seen within leucocytes. Other investigations including genetic testing could not be done due to financial constraints.
Figure 2: Light microscopy of l hair showing large melanin clumps mostly near the medulla of the hair shaft (×100)

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Figure 3: Skin microscopy showing pigment clumping in basal epithelial layer (H and E, ×100)

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She had no developmental delay or neurological problems that rules out ED. Absence of recurrent infections and inclusions in leucocytes rules out CHS. Hence, a diagnosis of GS was made based on hair microscopy and presenting features.


  Discussion Top


The three main groups of "silvery hair syndromes" are CHS, GS and ED. CHS is due to mutation in the gene regulating lysosomal trafficking CHS1/LYST, on chromosome 1q42-43. Giant granules in all granule containing cells are the hallmark of this disease. It is characterized by the pigmentary dilution, silvery hair, bleeding tendency and progressive neurological defects. Immune dysregulation leads to recurrent infections and the fatal complication of hemophagocytic syndrome that is characterized by fever, pancytopenia, hepatosplenomegaly, and lymphohistiocytic infiltration of various organs. [2],[4]

Griscelli syndrome was first described in 1978 by Griscelli and Prunerias. [1] Three genetic forms of GS are known. Pigmentary dilution involving skin and hair is common to all three types. GS Type 1 is caused by mutations in the gene encoding the molecular motor protein Myosin Va (MyoVa) on chromosome 15q21.1. It is associated with severe neurological impairment in the form of developmental delay, mental retardation, hypotonia, quadriplegia, seizures. GS Type 2 is associated with immunodeficiency and is caused by mutations in GTPase Rab27a on 15q21.1. Like CHS, these children can also progress to an accelerated phase of hemophagocytosis. GS Type 3 is caused by mutations in the gene that encodes melanophilin (Mlph), and its expression is restricted to hypopigmentation. [1],[5],[6],[7] MYO5A F-exon deletion has also been reported to cause a similar expression as Mlph. Rab27a, Mlph, and MyoVa are proteins involved in the movement of melanosomes. [5]

Prognosis and treatment vary among the different groups. Presence of neurological or immunological impairments carries a poor prognosis. There is no treatment for GS Type 1 apart from palliative care. Bone marrow transplantation may be the only curative option in GS Type 2. GS3 has a good prognosis, and no treatment is required. [4],[7]

Elejalde disease has recently been considered to be the same as GS Type 1. [2],[4],[7] In addition to hypopigmentation and silvery hair, there is early onset profound neurological dysfunction. Immunological function is normal. [3]

The diagnosis of GS is based on the characteristic clinical features and the typical findings in skin and hair microscopy. Normal hair shows even distribution of pigment throughout the hair shaft. In GS, large clumps of pigment are irregularly distributed along the hair shaft, mainly in the medullary area, similar to that in ED. In CHS regularly arranged small clumps of melanin are seen. [1],[2],[4] In GS, skin microscopy shows excess pigmentation of melanocytes at the basal layer and scanty pigmentation of the surrounding areas. In ED, irregular sized melanin granules dispersed in the basal layer are seen. In CHS, large melanosomes are seen in both melanocytes and keratinocytes. CHS is distinguished from the other two silvery hair syndromes by the presence of prominent inclusions in leucocytes. [1],[2]

The bronze pigmentation was probably due to tanning following sun exposure. Several reports have described these children with CHS, ED and GS presenting with hyperpigmentation after sun exposure. [1],[2],[3],[4]

Light microscopy of skin and hair and peripheral blood smear examination is an easy method to differentiate among these silvery hair syndromes. Molecular methods help to characterize the genetic defect and correlate between phenotype and genotype.

 
  References Top

1.
Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: Clue to diagnose immunodeficiency. Int J Trichology 2012;4:83-5.  Back to cited text no. 1
    
2.
Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011;3:107-11.  Back to cited text no. 2
    
3.
Cahali JB, Fernandez SA, Oliveira ZN, Machado MC, Valente NS, Sotto MN. Elejalde syndrome: Report of a case and review of the literature. Pediatr Dermatol 2004;21:479-82.  Back to cited text no. 3
    
4.
Valente NY, Machado MC, Boggio P, Alves AC, Bergonse FN, Casella E, et al. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes. Clinics (Sao Paulo) 2006;61:327-32.  Back to cited text no. 4
    
5.
Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 2003;112:450-6.  Back to cited text no. 5
    
6.
Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, et al. Novel 47.5-kb deletion in RAB27A results in severe Griscelli syndrome type 2. Mol Genet Metab 2010;101:62-5.  Back to cited text no. 6
    
7.
Meschede IP, Santos TO, Izidoro-Toledo TC, Gurgel-Gianetti J, Espreafico EM. Griscelli syndrome-type 2 in twin siblings: Case report and update on RAB27A human mutations and gene structure. Braz J Med Biol Res 2008;41:839-48.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


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