|Year : 2017 | Volume
| Issue : 2 | Page : 65-68
Griscelli syndrome Type 2: A report of rare case
Chandramohan Kudligi1, Pradeep Vittal Bhagwat1, Mary Zothanpuii Chhangte2, Vidya Kuntoji2, Sujata Giriyan3, Veena Andanappanavar4
1 Department of Skin and STD, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
2 Department of Dermatology and Venereology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
3 Department of Pathology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
4 Department of Dermatology, Venereology and Leprosy, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
|Date of Web Publication||28-Jul-2017|
D/o, Shri B. M. Kuntoji, H. No. MIG-1/191, Near Chidanand Math, Hudco Colony, Gadag - 582 103, Karnataka
Source of Support: None, Conflict of Interest: None
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin. Three different types (1–3) caused by mutation in three different genes have been described. GS2 is characterized by partial albinism, immunodeficiency, organomegaly, and hemophagocytic lymphohistiocytosis (HLH). Long-term prognosis of GS2 is poor, and in most cases, it leads to death within the first decade of life. GS2 is most common among three types with 11 cases reported from the Indian literature. We report a case of GS2 which was diagnosed well before the development of life-threatening HLH.
Keywords: Griscelli syndrome, melanin clumps, nystagmus, silvery hair
|How to cite this article:|
Kudligi C, Bhagwat PV, Chhangte MZ, Kuntoji V, Giriyan S, Andanappanavar V. Griscelli syndrome Type 2: A report of rare case. Clin Dermatol Rev 2017;1:65-8
|How to cite this URL:|
Kudligi C, Bhagwat PV, Chhangte MZ, Kuntoji V, Giriyan S, Andanappanavar V. Griscelli syndrome Type 2: A report of rare case. Clin Dermatol Rev [serial online] 2017 [cited 2021 Jan 16];1:65-8. Available from: https://www.cdriadvlkn.org/text.asp?2017/1/2/65/211774
| Introduction|| |
Griscelli syndrome (GS) is a rare autosomal recessive disorder, first described by Griscelli in 1978 as partial albinism with cellular immunodeficiency. Three different types (GS1, GS2, GS3) caused by mutation in three different genes have been described. Patients with GS1 have primary central nervous system dysfunction, GS2 have immune disorder, and GS3 present with partial albinism only. Among these three subtypes, GS2 has poor prognosis because it is associated with a primary immunodeficiency due to an impairment of T-cell and natural killer cytotoxic activity, which leads to susceptibility to recurrent infections. It also involves an immune condition called hemophagocytic lymphohistiocytosis (HLH) which is fatal if the condition is untreated. We report a case of GS2 which was diagnosed well before the development of severe complications.
| Case Report|| |
A 1-year-old boy was referred to our department for discoloration of the hair of the scalp, the eyebrows, and the eyelashes. The child was admitted to the pediatric ward several times during the past 1 year for recurrent respiratory and gastrointestinal infections. He was born of second-degree consanguineous marriage with uneventful antenatal and perinatal events, and he was the first child to their parents. His birth weight was not known. The child had a delay in his social and language development. However, his gross motor and fine skills were normal for his age. There was no history of seizures or hypotonia. General condition of the patient appeared to be lethargic and irritable. There was no icterus. The height was 74 cm and he weighed 9 kg. Both of these parameters were within the normal range for his age. Signs of malnutrition such as Bitot's spots, follicular hyperkeratosis, bipedal edema, angular stomatitis, and exfoliation of the skin were absent. Cutaneous examination showed silvery, white discoloration of the scalp hair, eyebrows, eyelashes, and vellus hair over the rest of the body [Figure 1]. The skin appeared to be normal in color. Abdominal examination revealed hepatosplenomegaly. Ophthalmological examination revealed brownish black iris (without showing any tendency for pigment dilution) and rotatory nystagmus in the entire gaze of both the eyes. Funduscopic examination was normal. Complete hemogram revealed low hemoglobin (6.4 g/dl), neutropenia (16%), and lymphocytosis (84%). Platelet counts were within normal limits. Peripheral blood smear showed microcytic, hypochromic anemia with relative lymphocytosis. However, there were no giant cytoplasmic granules in the leukocytes. Magnetic resonance imaging of the brain was normal. Light microscopy of the hair shaft showed irregular clumps of melanin distributed mainly toward the medulla [Figure 2]. Histopathological examination of the skin showed large coarse aggregates of melanin in the basal layer of the epidermis which showed reactivity with Masson–Fontana stain [Figure 3] and [Figure 4]. On the basis of the history, clinical examination, and laboratory findings, diagnosis of GS2 was made. Since parents were unwilling for bone marrow smear, it was not done. The patient was referred to the Department of Pediatrics for further management and genetic counseling from where he was lost to follow-up.
|Figure 1: Silvery white discoloration of the scalp hair, eyebrows, and eyelashes|
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|Figure 2: Irregular clumps of melanin distributed mainly toward the medulla on light microscopy of hair shaft (×10)|
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|Figure 3: Histopathological examination showing large coarse aggregates of melanin in the basal layer of the epidermis (H and E, ×10)|
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| Discussion|| |
GS is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three subtypes (GS1, GS2, and GS3) have been identified based on mutations in genetic loci (myosin VA, Ras-related protein Rab-27A, melanophilin, respectively). GS1 presents with primarily neurologic impairment with no immunologic involvement, GS2 presents with immunological dysfunction and multisystem involvement, and GS3 presents with only hypomelanosis. Patients with GS1 and GS3 are very rare. To date, 12 patients of GS3 and 20 patients of GS1 have been reported. GS2 is the most common among three types with around 101 cases reported in the medical literature worldwide, of which 11 cases are from India., The primary immunodeficiency seen in GS2 is due to an impairment of T-cell and natural killer cytotoxic activity, resulting in susceptibility to repeated infections, ultimately reaching a fatal accelerated phase characterized by HLH., HLH is a condition in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition remains untreated. Eye involvement is not common in GS. There is no report about eye abnormalities in GS1, and most of the cases of GS2 have normal ophthalmologic examination. However, Mancini et al. had reported one case of retinal hypopigmentation. Vieira Karuta et al. reported a case of GS2 with nystagmus which was similar to our case. Silvery hair can also be seen in Chediak–Higashi syndrome and Elejalde disease. However, they can be differentiated based on few additional clinical features and investigations [Table 1].,
|Table 1: Clinical features and investigations to differentiate between Griscelli syndrome, Chediak.Higashi syndrome, and Elejalde disease|
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Our case had features suggestive of GS2 and fortunately had not progressed to life-threatening accelerated phase called HLH. We had no facility for genetic tests and the diagnosis was made on the basis of clinical features, laboratory diagnosis, and hair shaft microscopic evaluation. The prognosis of GS2 is poor, with death in early childhood due to HLH and its complications. Hematopoietic stem cell transplantation is the only curative treatment for these patients., In developing countries like India, the constellation of hypopigmented hair, recurrent infection, severe malnutrition, and hepatosplenomegaly pose a diagnostic challenge to treating physicians, where kala-azar, thalassemia, leukemia, lymphoma, and tropical splenomegaly syndrome masquerade similarly. This explains the need of greater awareness of this uncommon entity which left untreated or wrongly diagnosed may prove fatal for the patient. It also has a role in antenatal diagnosis and genetic counseling if the parents of such patients are planning for subsequent pregnancies.
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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]