Chédiak-Higashi Syndrome: A Case Report

Patne, Shashikant C. U.; Kumar, Sandip; Bagri, Narendra Kumar; Kumar, Ashok; Shukla, Jyoti

doi:10.1007/s12288-011-0130-y

Cited by 9 publications

(16 citation statements)

References 5 publications

(8 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The robustness of the adopted procedure was suggested not only by the occurrence, in the BTA14 selection signature, of mostly genes playing a role in pigmentation biology, but also by the fact that two of them, SDCBP and NSMAF, had been previously shown to be knowingly or possibly implicated in hair graying phenotypes, respectively. Indeed, SDCBP (syndecan binding protein) has been identified as one of the dysregulated genes in grey compared to black hair follicles in human premature hair graying patients [41]; NSMAF shares a functional domain with the LYST (lysosomal trafficking regulator) gene, which is mutated in the Chediak-Higashi syndrome (CHS), a rare disorder characterized, among other features, by childhood occurrence of silvery grey colored hair [42][43][44][45][46]. In mice, a mutant LYST allele, named "grey" because of the grey coat color of affected mice, was described by Runkel et al [47].…”

Section: The Multi-cohort F St -Outlier Methods Is a Robust Approach Fmentioning

confidence: 99%

Fifteen Shades of Grey: Combined Analysis of Genome-Wide SNP Data in Steppe and Mediterranean Grey Cattle Sheds New Light on the Molecular Basis of Coat Color

Senczuk

Guerra

Mastrangelo

et al. 2020

Genes

View full text Add to dashboard Cite

Coat color is among the most distinctive phenotypes in cattle. Worldwide, several breeds share peculiar coat color features such as the presence of a fawn pigmentation of the calf at birth, turning over time to grey, and sexual dichromatism. The aim of this study was to search for polymorphisms under differential selection by contrasting grey cattle breeds displaying the above phenotype with non-grey cattle breeds, and to identify the underlying genes. Using medium-density SNP array genotype data, a multi-cohort FST-outlier approach was adopted for a total of 60 pair-wise comparisons of the 15 grey with 4 non-grey cattle breeds (Angus, Limousin, Charolais, and Holstein), with the latter selected as representative of solid and piebald phenotypes, respectively. Overall, more than 50 candidate genes were detected; almost all were either directly or indirectly involved in pigmentation, and some of them were already known for their role in phenotypes related with hair graying in mammals. Notably, 17 relevant genes, including SDR16C5, MOS, SDCBP, and NSMAF, were located in a signal on BTA14 convergently observed in all the four considered scenarios. Overall, the key stages of pigmentation (melanocyte development, melanogenesis, and pigment trafficking/transfer) were all represented among the pleiotropic functions of the candidate genes, suggesting the complex nature of the grey phenotype in cattle.

show abstract

Section: The Multi-cohort F St -Outlier Methods Is a Robust Approach Fmentioning

confidence: 99%

Fifteen Shades of Grey: Combined Analysis of Genome-Wide SNP Data in Steppe and Mediterranean Grey Cattle Sheds New Light on the Molecular Basis of Coat Color

Senczuk

Guerra

Mastrangelo

et al. 2020

Genes

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…Hair light microscopy showed a few but almost absent melanin granules that are sparsely distributed in the hair shaft. All of which does not comply with the clinical picture of CHS decribed by of Shashikant CUP et al [3] in their case report [3].…”

Section: Discussionmentioning

confidence: 68%

Vici Syndrome: A Case Report of Non-Identical Twins with Oculo- Cutaneous Albinism, Recurrent Infections and Absent Corpus Collasum

Goda¹

2015

IJVV

View full text Add to dashboard Cite

Case Reportglobal developmental delay, seizures, cataracts, absent corpus collasum, cleft lip and palate and cardiomyopathy [1]. Several case reports have described this condition over the past 3 decades. Here we describe a case of non identical twins who presented with this condition early in infancy. Case PresentationWe present two cases of 3 months old non identical twins, an outcome of a consanguineous marriage. They were delivered to an uneventful pregnancy via Caesarean Section due to twin pregnancy. They presented with, failure to thrive, feeding reflux regurgitation, developmental delay, left sided focal tonic clonic seizures since they were 7 days old. They had a past history of a chest infection, one week before their presentation to which they sought medical attention and were treated for by oral medications. Their family history was significant for Albinism, with normal development and outcome.On examination: They had oculocutaneous albinism dehydrated, very floppy, with a weak cry, with a positive moro reflex. Their weight and height were below the 5 th centiles for their age. They had silvery white hair with fair skin and blue reddish eyes. They had no palpable lymphnodes. Anterior fontanelle was normal with 3*3 centimeters in diameter; they had a high arched palate with oral mucocutaneouscandidaisis. Cardiovascular examination showed a systolic murmur in the mitral area, with normal 1 st and 2 nd heart sounds. Chest examination was clear. Abdominal examination was unremarkable. Central Nervous System examination revealed they had horizontal nystagmus, poor suckling reflex with generalized hypotonia and hyporeflexia.The patients were admitted with the pediatric neurology unit; for seizure control, nutritional support and rehydration. One week into their admission they developed urinary tract infection, and were prescribed parentral antibiotics for 5 days. Their complete blood count (CBC), in twin 1 and twin 2 respectively: Haemoglobin: 9.2 g/dl and 9.5 g/dl WBCs: 10.700 cells and 7.500 cells /mm 3 , Platelets: 453,000 and 444,000. Lymphocytes were: 65% and 51%, neutrophils: 28% and 38% with mixed cells: 7.4% and 11% respectively. Lymphocytosis in both twins was normal and corresponding with their age. Their peripheral blood picture showed features of mild hypochromic anaemia with normal Red and white blood cells in morphology and count, with large platelets. Five days later their mother complained of cough that was especially worse during the night, associated with diarrhoea and high grade fever that was not responding to oral paracetmol and cold sponging. They had coarse crackles all over the chest, chest X-rays revealed upper lobes consolidation and features of aspiration pneumonia. Blood cultures were taken for both twins and revealed MRSA in twin one and Enterococci in the 2 nd twin. They were treated with intravenous antibiotics namely Ceftazidime (50mg/kg/ dose every 8 hours) and Vancomycin (15mg/kg/dose every 8 hours) for 14 days. The twins conditions improved gradually and they were dischar...

show abstract

Chédiak-Higashi Syndrome: A Case Report

Cited by 9 publications

References 5 publications

Fifteen Shades of Grey: Combined Analysis of Genome-Wide SNP Data in Steppe and Mediterranean Grey Cattle Sheds New Light on the Molecular Basis of Coat Color

Fifteen Shades of Grey: Combined Analysis of Genome-Wide SNP Data in Steppe and Mediterranean Grey Cattle Sheds New Light on the Molecular Basis of Coat Color

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

Vici Syndrome: A Case Report of Non-Identical Twins with Oculo- Cutaneous Albinism, Recurrent Infections and Absent Corpus Collasum

Contact Info

Product

Resources

About