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Chediak‑Higashi Syndrome in Three Indian Siblings

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Chediak‑Higashi Syndrome in Three Indian Siblings Case Report Silvery Hair with Speckled Dyspigmentation: Chediak‑Higashi Access this article online Website: Syndrome in Three Indian Siblings www.ijtrichology.com Chekuri Raghuveer, Sambasiviah Chidambara Murthy, DOI: Mallur N Mithuna, Tamraparni Suresh 10.4103/0974-7753.167462 Quick Response Code: Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India ABSTRACT Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent Address for correspondence: respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and Dr. Chekuri Raghuveer, silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, Department of Dermatology and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years and Venereology, Vijayanagara had similar clinical, peripheral blood picture, and hair microscopy findings consistent with Institute of Medical Sciences, CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early Bellary ‑ 583 104, recognition, and management of the condition may prevent the preterm morbidity associated. Karnataka, India. E‑mail: c_raghuveer@ yahoo.com Key words: Partial albinism, primary immunodeficiency, silvery hair syndrome INTRODUCTION frontal scalp, eyebrows, eyelashes [Figure 1], and ocular pigmentary dilution was present. Other systems including hediak‑Higashi syndrome (CHS) is a rare, autosomal neurological findings were normal. Her sisters also had Crecessive, immunodeficiency disorder, exhibiting partial silvery‑grey hair with freckling over the face [Figure 2]. albinism with silvery grey hair, photosensitivity, pyoderma, Her hematological, biochemical, and tests for infections [1] hyperhidrosis, and easy bruisability. It constitutes a part including tuberculosis were normal or negative except for of the “silvery hair syndrome” in association with Griscelli neutropenia. Peripheral smear showed giant cytoplasmic [2] syndrome and Elejalde syndrome. We report this rare granules in the leucocytes. Light microscopy of scalp hair disorder in three sisters of a single family. showed evenly distributed melanin granules of a regular diameter which were bigger than those seen in normal CASE REPORT hair [Figure 3]. Skin biopsy from face showed scattered, large, coarsely pigmented melanocytes in the epidermis A 6‑year‑old girl, born to consanguineous parents, had with the sparse pigmentation of adjacent keratinocytes asymptomatic pigmentary lesions over face and upper accompanied by pigmented cells in the superficial extremities for 4 years. She had recurrent respiratory dermis [Figure 4]. Bone marrow examination was refused infections and variable hair color since early childhood. There This is an open access article distributed under the terms of the Creative was no spontaneous bleeding, photophobia, or systemic Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows involvement. Her developmental milestones and vaccination others to remix, tweak, and build upon the work non-commercially, as long as the status were up to date. Her younger sisters aged 4 and 2 years author is credited and the new creations are licensed under the identical terms. had almost similar features. Both her parents were unaffected. For reprints contact: [email protected] Cutaneous examination showed speckled hypo‑and How to cite this article: Raghuveer C, Murthy SC, Mithuna MN, hyperpigmented macules over the malar region, nose, and Suresh T. Silvery hair with speckled dyspigmentation: Chediak- freckles over extensor forearms. Silvery‑grey hair over Higashi syndrome in three indian siblings. Int J Trichol 2015;7:133-5. © 2015 International Journal of Trichology | Published by Wolters Kluwer - Medknow 133 Raghuveer, et al.: Chediak‑Higashi syndrome Figure 2: Involvement in both the sisters Figure 1: Speckled hypo‑and hyper‑pigmentation over face with silvery hair over scalp and eyebrows Figure 4: Histopathological examination showing large, coarse, pigmented melanocytes in the epidermis (H and E, ×200) Figure 3: Light microscopy of hair mount with large aggregates of fever may be seen.[4] Our patients had recurrent respiratory pigment granules distributed regularly (×450) infections without involving other systems. by the parents and genetic tests could not be done for Occasionally, speckled hypo‑pigmentation and the want of facilities. Light microscopy of scalp hair and hyper‑pigmentation on sun‑exposed areas similar to a peripheral smear of both her sisters’ showed similar our case is reported to occur in Japanese and Saudi features. With these clinical and laboratory findings, a [3] diagnosis of CHS was made and patients were referred children. This may be due to a defect in the degradation for bone marrow transplantation (BMT). of melanosomes or melanosome complexes along with an increase in the tyrosinase activity in dark skinned populations in response to repeated sun exposure.[3] DISCUSSION In majority (85%) of cases, accelerated phase, characterized Chediak‑Higashi syndrome, first described in 1943, results by fever, jaundice, lymphoreticular, and neurologic from a mutation in CHS1 gene located on chromosome involvement with eventual death are noted. Epstein–Barr 1q 42–43 leading to abnormal intracellular protein virus has been implicated as a precipitating factor. Based transport.[3,4] Defective melanization of melanosomes on the clinical and investigational findings, a diagnosis of results in oculocutaneous albinism. It affects all races with CHS without accelerated phase was made in our patients. equal sex distribution. The symptoms usually appear soon Differential diagnoses with salient features are highlighted after birth or in early childhood. Apart from cutaneous in Table 1. It is important to differentiate, as the prognosis and neurological involvement, lymphadenopathy, aphthae, and treatment varies.[2,5] Prenatal diagnosis can be done gingivitis, jaundice, recurrent sinopulmonary infections, and using fetal hair or white blood cells.[4] 134 International Journal of Trichology / Jul-Sep 2015 / Vol-7 / Issue-3 Raghuveer, et al.: Chediak‑Higashi syndrome Table 1: Summary of differential features for silvery hair syndrome Findings Chediak-Higashi syndrome Griscelli syndrome Elejalde disease Ocular involvement Common Less common Common Neurological involvement Common Common Predominant with early death Accelerated phase Common Less common Absent Peripheral blood smear Present Absent Absent (giant cytoplasmic granules) Light microscopy of hair Regularly arranged small Irregularly arranged small and large clumps of Irregularly arranged small and clumps of melanin melanin large clumps of melanin Histopathology of skin Large melanosomes in both Excess pigmentation of melanocytes in basal layer Irregular sized melanin granules melanocytes and keratinocytes with hypo-pigmentation of adjacent keratinocytes dispersed in basal layer Electron microscopy of skin Large melanosomes in both Mature melanosomes in melanocytes and Melanosomes of varied melanocytes and keratinocytes partly in keratinocytes maturity in the melanocytes Treatment options are limited and the only definitive images and other clinical information to be reported in treatment is BMT from a human leukocyte antigen‑matched the journal. The patients understand that their names donor.[6] Infections are treated with antibiotics. High dose and initials will not be published and due efforts will be Vitamin C and granulocyte colony stimulating factor made to conceal their identity, but anonymity cannot be therapy may improve immune function and clotting.[4] In guaranteed. the accelerated phase, etoposide, steroids, methotrexate, cyclophosphamide, and acyclovir are tried. Survival into adulthood without accelerated phase is seen in up to 15% REFERENCES of cases. Early death in CHS occurs due to infection or 1. Weary PE, Bender AS. Chediak‑Higashi syndrome with severe cutaneous bone marrow failure. The prognosis is good if BMT is involvement. Occurrence in two brothers 14 and 15 years of age. Arch Intern done before the setting in of accelerated phase. Med 1967;119:381‑6. 2. Inamadar AC, Palit A. Silvery hair with bronze‑tan in a child: A case of Elejalde disease. Indian J Dermatol Venereol Leprol 2007;73:417‑9. Financial support and sponsorship 3. Al‑Khenaizan S. Hyperpigmentation in Chediak‑Higashi syndrome. J Am Acad Dermatol 2003;49:S244‑6. Nil. 4. Akhtar K, Fatima S, Malik A, Afaq S, Sherwani RK. Chediak Higashi syndrome with recurrent respiratory tract infection. Indian Med Gaz 2014;147:35‑8. Conflicts of interest 5. Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak‑Higashi syndrome vs Griscelli syndrome, The authors certify that they have obtained all appropriate with rare associations. Int J Trichology 2011;3:107‑11. 6. Islam AS, Hawsawi ZM, Islam MS, Ibrahim OA. Chédiak‑Higashi syndrome: patient consent forms. In the form the patient(s) has/ An accelerated phase with hereditary elliptocytosis: Case report and review have given his/her/their consent for his/her/their of the literature. Ann Saudi Med 2001;21:221‑4. International Journal of Trichology / Jul-Sep 2015 / Vol-7 / Issue-3 135.
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