Chediak-Higashi syndrome presenting in the accelerated phase

Palaniyandi, Senthilkumar; Elayaraja, S; Pasupathy, Umapathy; Ravichandran, Latha; Rajendran, Aruna; Suman, Febe Renjitha; Prasad, S Rajendra

doi:10.7196/sajch.2017.v11i2.1277

Cited by 3 publications

(4 citation statements)

References 14 publications

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“…The pigment dilution limited to hairs, with a normal skin color is not uncommon in GS . Localized to widespread hypopigmented macules/patches have been reported in CHS, ES, and GS2 . Tanning or diffuse bronze‐like hyperpigmentation on sun‐exposed sites is often seen in ES; but rarely also in CHS, GS2, and GS3 .…”

Section: Discussionmentioning

confidence: 96%

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

Batrani¹,

Thole

Kubba³

et al. 2018

J Cutan Pathol

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We herein illustrate a case of an adult male presenting with silvery hair and generalized guttate hypopigmented macules on a background of diffuse cutaneous hyperpigmentation, since birth. Histopathology showed enlarged melanocytes with abundant melanin. Based on these clinicopathological features, differential diagnoses considered were Griscelli syndrome 3 (GS3) and familial giagantic melanocytosis. GS3 belongs to a group of inherited autosomal recessive (AR) disorders of partial albinism, known as silvery hair syndromes, while familial gigantic melanocytosis (FGM) is a putative disorder of dyschromia with silvery hairs. A pertinent literature search revealed hyperpigmentation or dyschromatosis as a rare manifestation of silvery hair syndromes, especially in dark-skin populations. A comparative analysis of previously reported cases depicted close morphological similarities between GS3 and FGM. We discuss the uncertainty pertaining to cases described in literature as FGM, to be truly representative of a distinctive entity, or merely a morphological variation of GS3.

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Section: Discussionmentioning

confidence: 96%

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

Batrani¹,

Thole

Kubba³

et al. 2018

J Cutan Pathol

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“…Trata-se de doença autossômica recessiva e deve-se desconfiar do seu acometimento principalmente em caso de albinismo oculocutâneo parcial, associado a infecções recorrentes. (PALANIYANDI et al, 2017;CARLOS et al, 2014;GARCIA ela t, 2011;FANTINATO et al, 2011). Do ponto de vista diagnóstico, os achados mais confiáveis são grânulos anormalmente grandes em leucócitos e outras células que os contêm, sendo reconhecidos por meio de esfregaços periféricos.…”

Section: Conclusãounclassified

“…Leucopenia, trombocitopenia e coagulopatias são recorrentes. (PALANIYANDI et al, 2017;CARLOS et al, 2014) Brazilian Journal of Health Review, Curitiba, v. 6, n. 5, p. 22215-22222, sep/oct., 2023 A proposta de tratamento difere de acordo com a fase da doença, que se divide em estável ou crônica e progressiva ou acelerada, e baseia-se nos seguintes aspectos: suporte às complicações, protocolo para linfohistiocitose hemofagocítica e transplante de células-tronco (WU, XL et al, 2017;CARLOS et al, 2014;GARCIA et al, 2011). A abordagem com o transplante de células-tronco tem caráter curativo, mas deve ser realizada o mais precocemente possível, assim sua rápida detecção aumenta as chances de sobrevivência (PALANIYANDI, S et al; WU, XL et al).…”

Section: Conclusãounclassified

Síndrome de Chediak-Higashi: um estudo de caso abordando características, diagnóstico e evolução clínica

Peixoto,

De Menezes,

Gomes

et al. 2023

Braz. J. Hea. Rev.

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Introdução: A síndrome de Chediak-Higashi (SCH) é uma doença genética autossômica recessiva rara descrita, principalmente, por infecções recorrentes, hipopigmentação, fotofobia e comprometimento neurológico. Apresentação do caso: Paciente do sexo feminino, 2 anos e natural de Anápolis - Goiás. Nascida de parto cesáreo, a termo, sem intercorrências durante o parto. Discussão: A SCH apresenta-se em duas fases: a acelerada e a crônica, sendo o quadro clínico variável a depender de qual fase a doença se encontra. Além do quê, o fenômeno de repigmentação no paciente pode ser único ou pode ser uma característica de pacientes negros até então despercebidas devido à grande raridade da SCH em negros. O tratamento é preventivo com higiene rigorosa e vacinas. A administração de antibiótico profilático está sendo debatida. Conclusão: A consanguinidade dos pais demonstra ser um achado comum na literatura. A história natural na infância da SCH é de prognóstico desfavorável, com a maioria dos pacientes morrendo devido a infecções ou hemorragias na primeira década de vida.

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“…It is mainly characterized by mutation in CHS1/LYST gene located at 1q42, resulting in abnormal protein trafficking and aberrant fusion of vesicles. 3,4 It constitutes a part of "silvery hair syndrome" along with other similar condition like Griscelli syndrome (GS). 5 Generally these patients present with organomegaly along with recurrent infections due to immune deficiency.…”

Section: Introductionmentioning

confidence: 99%

Cutaneous presentation in chediak – Higashi syndrome – A rare case report

Saiyed¹,

Singh²,

Kulkarni³

2022

ACHR

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A One and half year-old female child born out of 2consanguineous marriage came with multiple hypopigmented patches over the face, trunk and lower limbs. There was history of recurrent upper respiratory tract infections. On examination she had silvery grey hair, hypopigmented patches and mild hepatomegaly. Ophthalmological examination revealed oculocutaneous albinism. Skin biopsy showed coarse clumps of melanin pigment in the epidermis. Hair mount examination revealed melanin granules in cortex and medulla. Routine blood investigations were within normal limits. Peripheral smear examination showed giant granules in neutrophils and lymphocytes.

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Chediak-Higashi syndrome presenting in the accelerated phase

Abstract: Fig. 1. Child presented with silvery hair and patchy areas of skin hypopigmentation. Fig. 2. Peripheral smear showing giant intracellular granules (arrow).

Cited by 3 publications

References 14 publications

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

Síndrome de Chediak-Higashi: um estudo de caso abordando características, diagnóstico e evolução clínica

Cutaneous presentation in chediak – Higashi syndrome – A rare case report

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