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Swapnil D Shah1, Balachandra S Ankad2, Sankappanavara V Smitha3
1 From the Department of Dermatology, Ashwini Rural Medical College, Solapur, Maharashtra, India
2 Department of Dermatology, S. Nijalingappa Medical College, Bagalkot, Karnataka, India
3 Department of Dermatology, St. John's Medical College, Bengaluru, Karnataka, India
Correspondence Address:
Balachandra S Ankad
Department of Dermatology, S. Nijalingappa Medical College, Near APMC, Navanagar, Bagalkot - 587 102, Karnataka
India
Source of Support: None, Conflict of Interest: None
CheckDOI: 10.4103/ijd.ijd_866_22
Abstract
Introduction: Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of “silvery hair syndromes” which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome. Hair light microscopy helps in the differentiation of GS and CHS, as both manifest with clinical features. Trichoscopy is useful in the diagnosis of many hair shaft disorders. Here, authors describe the trichoscopic features of GS in skin of color. Materials and Methods: This was an observational study conducted in a private dermatology clinic and in a tertiary care hospital. A total of 5 cases of suspected GS were referred by pediatrician. Consent was obtained. The demographic data in terms of age, gender, consanguinity, and clinical history was documented. Trichoscopic examination was performed with FotoFinder videodermoscope with 20× magnification, the clinical images were captured with Medicam 1000. Trichoscopy showed large and irregular pigment clumps in 4 cases. One case demonstrated hypopigmentation of hair without pigment clumps [Figure 3]a. Results: Trichoscopy showed large and irregular pigment clumps in 4 cases. One case demonstrated hypopigmentation of hair without pigment clumps.
Conclusion: Trichoscopy shows characteristic features GS. It is a useful method when facility for light or polarized microscope is unavailable.
Keywords: Diagnosis, Griscelli syndrome, pigment clumps, trichoscopy
Introduction 
Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of “silvery hair syndromes” which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome.[1] Earlier, GS was termed as Chediak- Higashi like syndrome as it resembled CHS in terms of clinical features and disease course. Now, it is a distinctive entity.[1] Hair changes especially abnormalities in shaft play a critical role in the diagnosis of many infectious and genetic hair disorders. These changes are generally picked up by microscopic examination of shafts.[2] The accurate diagnosis of both GS and CHS requires evaluation of hair shafts by light microscopic examination. Light microscopy of hair shafts reveals large and irregular melanin granules in GS unlike CHS wherein evenly placed, regular melanin granules are observed. Further, polarized light microscopy, by revealing monochromatic white color and polychromatic refringence appearance, respectively, in GS and CHS, is considered to be specific in the diagnosis.[3] Trichoscopy, the dermoscopy of hair and scalp diseases, is being utilized extensively in the diagnosis of hair disorders. With higher magnification, it demonstrates minute details hair shaft abnormalities.[4] Here, the importance of trichoscopy as a diagnostic adjuvant in GS is described.
Materials and Methods This study was conducted in a private dermatology clinic and in a tertiary care hospital attached to a medical college. All the cases were referred by the pediatrics clinic. Consent was obtained from the parents to use the data for publication. Demographic details such as age, gender, consanguinity, and clinical history was recorded. Children were brought with a history of hypopigmented grey hairs. Routine hematological investigation including peripheral smear was done. Detail clinical examination was performed to check for the systemic involvement.
Trichoscopic examination
Trichoscopic examination was performed with FotoFinder videodermoscope with 20× magnification, the clinical images were captured with Medicam 1000.
Based on the history, clinical features and trichoscopic findings, the cases were diagnosed as having GS. The children were referred to pediatric for further evaluation and management.
Results This study constituted 5 children with 3 boys and 2 girls. Age ranged between 16 months and 132 months. History of consanguinity was present in all except in one child. The demographic data with relevant clinical details are shown in the [Table 1]. Trichoscopy showed large and irregular pigment clumps in 4 cases [Figure 1]a, [Figure 1]b and [Figure 2]a, [Figure 2]b. One case demonstrated hypopigmentation of hair without pigment clumps [Figure 3]a.
Table 1: Demographic, clinical, and trichoscopic features in Griscelli syndrome in study population
Figure 1: Trichoscopy shows pigment clumps in a proper (arrows) and broken (circles) linear pattern (a and b). Inset: Clinical images showing total (a) and patrial (b) silvery grey hair on the scalp (FotoFinder Videodermoscope, 20×, Polarized)
Figure 2: Trichoscopy shows pigment clumps in a proper (arrows) and broken (circles) linear pattern (a and b). Note a segment of hypopigmented area on the hair shaft (box). Inset: Clinical images showing total (a) and patrial (b) silvery grey hair on the scalp. (FotoFinder Videodermoscope, 20×, Polarized)
Figure 3: Trichoscopy shows hypopigmented hair shaft without pigment clumps (box) (a). Normal hair with properly pigmented (arrow) shaft under videodermoscope (b). Inset: Clinical image with light color sparse hairs on the scalp (FotoFinder Videodermoscope, 20×, Polarized) Discussion GS is an autosomal recessive disorder typified by pigmentary dilution of the skin and hair with numerous systemic abnormalities due to genetic mutations. Griscelli and Prunieras described Griscelli syndrome for the first time in 1978. GS is divided into three types based on the mutation and respective clinical manifestation. Type 1 GS is associated with severe neurological impairment without immunodeficiency due to mutations in MYO5A. Type 2 GS is associated with hemophagocytosis and immunodeficiency resulting from mutations in Rab27a. In contrast, type 3 is characterized by restricted involvement of hairs and skin from the mutation in the gene that encodes melanophilin (Mlph).[5]
Trichoscopy of normal hair shows blackish color all along the hair shaft [Figure 3]b. Microscopic examination of the normal hair shaft reveals small homogenous pigment granules [Figure 4]a. As mentioned above, GS and CHS manifest with similar clinical features and could be definitely differentiated by examination of hair shaft by light microscopy. Recently, in GS hairs demonstrated pigment clumps that are arranged linearly in the center of the hair, appearing as “road-dividing-line.” The dermoscopic (10x magnification) findings were further affirmed light microscopy.[6] In this report, we could find large pigment clumps in an irregular linear distribution all along the shaft. These findings were fairly comparable to previous report although exact resemblance of “road-divide-line” appearance of pigment clumps was not present. All cases showed similar features except one case that showed only hypopigmentation of shaft without pigment clumps. This particular child was brought by parents at the age of 11 years, for sparseness and hypopigmented hairs. Systemic abnormalities were not found. Thus, he was typified as having Type 3 and the absence of pigment clumps is probably related to the longer duration of illness. However, further speculation is warranted. We could not perform light polarized microscopy and genetic analysis in our study due to lack of facility. Nevertheless, normal hair pigmentation was differentiated from abnormal hair in GS [Figure 4]b (large pigment clumps) under light microscopy. Peripheral smear is useful in differentiating GS and CHS. It is normal in former and large cytoplasmic inclusions in lymphocytes are found in the latter.[7] In present study, all cases revealed normal peripheral smear which further reinforces the diagnosis of GS. All three types of GS showed similar trichoscopic features. Thus the exact correlation to type of GS and trichoscopic pattern could not be derived in thus study.
Figure 4: Light microscopy of normal hair shows proper pigment in the hair shaft (a) in contrast to pigment clumps (arrow) in the Griscelli Syndrome (b) (10×)To conclude, trichoscopy (20× magnification) is useful in the assessment of shaft abnormalities in genetic hair disorders, especially in the set up where facility of light and polarized microscopy is not readily available. It shows specific changes in hair shafts. We would recommend utilizing trichoscopy in suspected cases of genetic hair disorders.
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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