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Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report

Griscelli syndrome type 2 (GS2) is a rare, autosomal recessive condition caused by a mutation of the RAB27A gene that causes primary immunodeficiency and pigmentary dilution of skin and hair. It is a rare occurrence, with only 160 cases reported all over the world. It commonly progresses to hemophag...

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Autores principales: Perugu, Ratna Krishna Tanmayi, Karra, Nanditha, Shaik, Saniya s, Venigalla, Womesh Chandra, G, Preeti, Maram, Manasvi Reddy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544088/
https://www.ncbi.nlm.nih.gov/pubmed/37791210
http://dx.doi.org/10.7759/cureus.44445
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author Perugu, Ratna Krishna Tanmayi
Karra, Nanditha
Shaik, Saniya s
Venigalla, Womesh Chandra
G, Preeti
Maram, Manasvi Reddy
author_facet Perugu, Ratna Krishna Tanmayi
Karra, Nanditha
Shaik, Saniya s
Venigalla, Womesh Chandra
G, Preeti
Maram, Manasvi Reddy
author_sort Perugu, Ratna Krishna Tanmayi
collection PubMed
description Griscelli syndrome type 2 (GS2) is a rare, autosomal recessive condition caused by a mutation of the RAB27A gene that causes primary immunodeficiency and pigmentary dilution of skin and hair. It is a rare occurrence, with only 160 cases reported all over the world. It commonly progresses to hemophagocytic lymphohistiocytosis (HLH) due to immunodeficiency. We herein represent the case of a seven-month-old male child, the firstborn of a third-degree consanguineous marriage, who presented with recurrent viral infections and silvery grey hair. A definitive diagnosis of GS 2 was made in accordance with the pathognomonic appearance of hair on microscopic examination and whole genome sequencing, which revealed a homozygous missense mutation in exon 3 of the RAB27A gene. This article is being reported to highlight the rare incidence of this disease, its overlapping clinical features with malnutrition, the challenges faced in diagnosis, and the treatment modalities for it.
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spelling pubmed-105440882023-10-03 Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report Perugu, Ratna Krishna Tanmayi Karra, Nanditha Shaik, Saniya s Venigalla, Womesh Chandra G, Preeti Maram, Manasvi Reddy Cureus Dermatology Griscelli syndrome type 2 (GS2) is a rare, autosomal recessive condition caused by a mutation of the RAB27A gene that causes primary immunodeficiency and pigmentary dilution of skin and hair. It is a rare occurrence, with only 160 cases reported all over the world. It commonly progresses to hemophagocytic lymphohistiocytosis (HLH) due to immunodeficiency. We herein represent the case of a seven-month-old male child, the firstborn of a third-degree consanguineous marriage, who presented with recurrent viral infections and silvery grey hair. A definitive diagnosis of GS 2 was made in accordance with the pathognomonic appearance of hair on microscopic examination and whole genome sequencing, which revealed a homozygous missense mutation in exon 3 of the RAB27A gene. This article is being reported to highlight the rare incidence of this disease, its overlapping clinical features with malnutrition, the challenges faced in diagnosis, and the treatment modalities for it. Cureus 2023-08-31 /pmc/articles/PMC10544088/ /pubmed/37791210 http://dx.doi.org/10.7759/cureus.44445 Text en Copyright © 2023, Perugu et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Perugu, Ratna Krishna Tanmayi
Karra, Nanditha
Shaik, Saniya s
Venigalla, Womesh Chandra
G, Preeti
Maram, Manasvi Reddy
Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
title Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
title_full Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
title_fullStr Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
title_full_unstemmed Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
title_short Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
title_sort griscelli syndrome with hemophagocytic lymphohistiocytosis: a rare case report
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544088/
https://www.ncbi.nlm.nih.gov/pubmed/37791210
http://dx.doi.org/10.7759/cureus.44445
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