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| CASE REPORT |
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| Year : 2023 | Volume
: 15
| Issue : 1 | Page : 36-38 |
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Slivers of hair – A clue to uncover silver hair syndromes
Nivetha Ganeshan, Muthukumaran Rajaram, Madhavan Ramamoorthy, Bharathi Sukumar
Department of Dermatology, Venereology and Leprology, Coimbatore Medical College and Hospital, Coimbatore, Tamil Nadu, India
| Date of Submission | 05-Dec-2020 |
| Date of Decision | 04-Feb-2022 |
| Date of Acceptance | 03-Mar-2022 |
| Date of Web Publication | 19-Apr-2023 |
Correspondence Address:
Muthukumaran Rajaram
Department of Dermatology, Venereology and Leprology, Coimbatore Medical College and Hospital, Coimbatore, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijt.ijt_181_20
 Abstract | | |
Silver hair syndromes (SHS) consist of rare autosomal recessive disorders, Chediak–Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a disorder of vesicle trafficking; characterized by silvery hair, diffuse pigment dilution, immunodeficiency, bleeding diathesis, neurological manifestations, and an accelerated phase due to lymphohistiocytic infiltration. GS is characterized by hypopigmentation of skin and hair, with large clumps of pigment in the hair shaft. There are three types of GS. GS1 and GS2 show neurologic and hematologic impairments; GS3 is restricted to the skin. Some authors suggest that Elejalde syndrome is synonymous with GS Type 1. Here, we report two cases who presented with silver-gray hair but with varied clinical manifestations. With a light microscopic examination of the hair and peripheral smear, a diagnosis has been made. This report highlights the importance of hair shaft microscopy, an inexpensive, noninvasive, and simple tool in the diagnosis of SHS.
Keywords: Chediak Higashi, Griscelli, light microscopy, silver hair
How to cite this article:
Ganeshan N, Rajaram M, Ramamoorthy M, Sukumar B. Slivers of hair – A clue to uncover silver hair syndromes. Int J Trichol 2023;15:36-8 |
| Introduction | |  |
Silver hair syndromes (SHS) comprise Chediak–Higashi syndrome (CHS) and Griscelli–prunieras (GS) syndrome. Both CHS and GS can present with silvery-gray hair, oculocutaneous albinism, easy bruising, recurrent pyogenic infections, immunodeficiency, neurological symptoms, and an accelerated phase due to hemophagocytic lymphohistiocytosis.[1] We can discern the differences between SHS by light microscopy of hair. In CHS, aberrant melanosomes are distributed regularly throughout the hair shaft.[2] In GS, melanin clumps appear unevenly in the medulla, described as a “road dividing line”-like appearance.[3]
| Case Report | | |
Case 1
A 3-year-old male child, developmentally normal, second born, of third-degree consanguineous marriage, presented with fever, cough, abdominal distension, and a history of recurrent infections since birth. On examination, the child had fever, pallor, and hepatosplenomegaly. Dermatological examination showed silvery-gray or metallic hair over scalp and body, perioral hypopigmentation, and diffuse hyperpigmentation with guttate hypopigmented macules over trunk and extremities [Figure 1]. Ophthalmic examination revealed horizontal nystagmus, disc margin disruption, and multiple hyperpigmented patches in the retina. | Figure 1: (a) Silver-gray hair over scalp. (b) mottled pigmentation and gray hair over the trunk
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Laboratory investigations revealed TC – 1900/μl, red blood cell – 3.78 × 106/μl, hemoglobin – 7.4 g/dl, PLT – 5000/μl, TGL – 386 mg/dl, and serum ferritin – 1800 ng/ml. Peripheral smear showed cytoplasmic inclusion bodies in neutrophils, large granular lymphocytes [Figure 2], microcytic hypochromic anemia, and severe thrombocytopenia. Hair microscopy showed evenly distributed melanin granules of regular diameter over the entire shaft [Figure 2]. Chest X-ray revealed bilateral bronchopneumonia. Other blood investigations, cerebrospinal fluid analysis, and imaging studies were normal. | Figure 2: (a) Light microscopy at ×40, showing regularly arranged pigment clumps throughout the hair shaft. Peripheral smear (Leishman stain, ×100) showing (b) Azurophilic inclusion bodies in neutrophil (black arrow), (c) inclusion body in lymphocyte (black arrow)
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A diagnosis of CHS in hemophagocytic lymphohistiocytosis with bronchopneumonia was made. He recovered with treatment and bone marrow transplantation was planned.
Case 2
A 1-year-old female child, firstborn of second-degree consanguineous marriage, with global developmental delay, presented with three episodes of seizures. History of seizures at 2 months of age was not evaluated. No history was suggestive of infection and immunodeficiency. Dermatological examination revealed hypopigmentation of skin, silver gray hair over the scalp, eyebrows, and eyelashes, and a normal iris pigmentation[Figure 3]. Blood investigations, imaging studies, and peripheral smear were normal. Scalp hair microscopy revealed multiple irregular large clumps of melanin in the medulla of the hair shaft [Figure 3]. She was diagnosed as a case of Type 1 GS. She was treated conservatively and discharged. | Figure 3: (a) Silver-gray hair over scalp, eyebrows, and eyelashes. (b) Light microscopy at × 40, showing large pigment clumps in the medulla of the hair shaft
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| Discussion | | |
CHS is a rare autosomal recessive condition due to mutation in the LYST or CHS1 gene, resulting in nonfunctional lysosomes. Clinical manifestations include partial oculocutaneous albinism, hyperpigmentation in sun-exposed sites, “silvery” hair, immunodeficiency, bleeding tendency, neurologic manifestations, and accelerated phase/hemophagocytic lymphohistiocytosis. On cytology, large azurophilic granules are seen in the white blood counts, melanocytes, and few other cells. Hair shaft microscopy shows regularly arranged pigment granules.[1]
Griscelli–Prunieras syndrome, a rare autosomal recessive disorder due to mutation in the tripartite complex involved in vesicle transport and membrane trafficking, is characterized by pigment dilution of skin, silvery-gray hair, and abnormal melanosomes in melanocytes. There are three variants of GS due to mutations in MYO5A, RAB27A, and melanophilin genes, respectively.[4] GS Type 1 and 2 have additional neurological and hematological manifestations, respectively. GS Type 3 is restricted to the skin. Elejalde syndrome is considered the same as GS Type 1.[5] Early bone marrow transplantation is a life-saving measure in CHS and GS2.
It is important to diagnose these syndromes as the treatment and prognosis vary. Clinicians can discern the differences between SHS by light microscopy of the hair shaft. In CHS, aberrant melanosomes are regularly distributed throughout the hair shaft. In GS, large melanin clumps appear unevenly in the medulla and have been described as a “road dividing line”-like appearance.
Although the gold standard of diagnosis for SHS is molecular identification of mutation, it is satisfying that with a simple, inexpensive, and noninvasive, light microscopic examination of the hair, combined with a routine peripheral smear, a precise diagnosis can be rendered.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. The parent's parents have given their consent for their child's images and other clinical information to be reported in this journal. The parents understand that their children's 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.
| References | | |
| 1. | Ajitkumar A, Yarrarapu SN, Ramphul K. Chediak Higashi syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2020. Available from: http://www.ncbi.nlm.nih.gov/books/NBK507881/. [Last accessed on 2020 Dec 03].  |
| 2. | de Almeida HL Jr., Kiszewski AE, Vicentini Xavier T, Pirolli F, Antônio Suita de Castro LA. Ultrastructural aspects of hairs of Chediak-Higashi syndrome. J Eur Acad Dermatol Venereol 2018;32:e227-9. |
| 3. | Katoulis AC, Daskari D, Liakou AI, Bozi E, Lianou D, Rigopoulos D. “Road-Dividing Line” – Like pigmentation of hair as a diagnostic clue for Griscelli syndrome. Skin Appendage Disord 2017;2:143-5. |
| 4. | Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012;34:541-4. |
| 5. | 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. |
[Figure 1], [Figure 2], [Figure 3]
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