scispace - formally typeset

Journal ArticleDOI

Elejalde syndrome: report of a case and review of the literature.

01 Jul 2004-Pediatric Dermatology (Wiley)-Vol. 21, Iss: 4, pp 479-482

TL;DR: A 6‐year‐old girl with Elejalde syndrome is reported and the differential diagnosis includes Griscelli and Chediak‐Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction.

AbstractElejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6- year-old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak-Higashi syndromes.

Topics: Elejalde syndrome (86%)

...read more

Content maybe subject to copyright    Report

Citations
More filters

Journal ArticleDOI
TL;DR: This review discusses the main components of LRO biogenesis, and summarizes the function, composition, and resident cell types of the major LROs.
Abstract: Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share various features with lysosomes, but are distinct in function, morphology, and composition. The biogenesis of LROs employs a common machinery, and genetic defects in this machinery can affect all LROs or only an individual LRO, resulting in a variety of clinical features. In this review, we discuss the main components of LRO biogenesis. We also summarize the function, composition, and resident cell types of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders.

323 citations


Book Chapter
01 Jan 2008
TL;DR: The Griscelli syndrome presents in accelerated phase with neurological involvement and the role of mutations in the RAB27A gene as an indication for BMT is unclear.
Abstract: 9. Tezcan I et al: Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement. Bone Marrow Transplant 24:931-933, 1999 10. Schuster F et al: Griscelli syndrome: Report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone Marrow Transplant 28:409-412, 2001

142 citations


Journal ArticleDOI
TL;DR: It is demonstrated that the identification and biological analysis of novel disease‐causing mutations highlighted the functional importance of the RAB27A‐MLPH‐MYO5A tripartite complex in intracellular melanosome transport.
Abstract: Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes The three GS subtypes are commonly characterized by pigment dilution of the skin and hair, due to defects involving melanosome transport in melanocytes Here, we review how detailed studies concerning GS have contributed to a better understanding of the molecular mechanisms involved in vesicle transport and membrane trafficking processes Additionally, we demonstrate that the identification and biological analysis of novel disease-causing mutations highlighted the functional importance of the RAB27A-MLPH-MYO5A tripartite complex in intracellular melanosome transport As the small GTPase Rab27a is able to interact with multiple effectors, including Slp2-a and Myrip, we report on their presumed role in melanosome transport Furthermore, we summarize data suggesting that RAB27B and RAB27A are functionally redundant and hereby provide further insight into the pathogenesis of GS2 Finally, we discuss how the gathered knowledge about the RAB27A-MLPH-MYO5A tripartite complex can be translated into a possible therapeutic application to reduce (hyper)pigmentation of the skin

135 citations


Cites background from "Elejalde syndrome: report of a case..."

  • ...Certain cases of Elejalde syndrome (OMIM #256710), also known as neuroectodermal melanolysosomal disease (Cahali et al., 2004; Duran-Mckinster et al., 1999; Ivanovich et al., 2001), have clinical and histologic features suggestive of GS1, indicating that these are other cases of MYO5A mutations....

    [...]


Journal ArticleDOI
01 Aug 2006-Clinics
TL;DR: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them.
Abstract: OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das sindromes de Chediak-Higashi e Griscelli-Prunieras, tanto na microscopia optica convencional quanto com luz polarizada. METODO: Cabelos de dois doentes portadores da sindrome de Chediak-Higashi e de dois portadores da sindrome de Griscelli-Prunieras foram obtidos e estudados tanto a microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia optica convencional, os cabelos dos doentes portadores da sindrome de Chediak-Higashi mostraram grânulos de melanina regulares, com distribuicao homogenea e de maior tamanho em comparacao aos presentes no cabelo normal. A microscopia de luz polarizada notou-se aspecto brilhante e refringencia policromatica. Diferentemente, os cabelos dos doentes portadores da sindrome de Griscelli-Prunieras apresentaram a microscopia convencional, grânulos de melanina irregulares e maiores do que os presentes no cabelo normal e os presentes nos cabelos dos doentes portadores da sindrome de Chediak-Higashi, preferencialmente proximos a medula das hastes pilosas. A microscopia de luz polarizada apresentaram aspecto monotonamente esbranquicado. CONCLUSAO: O exame dos cabelos pela microscopia convencional nas sindromes de Chediak-Higashi e Griscelli-Prunieras revela diferencas sutis no reconhecimento dessas doencas. No presente trabalho apresentamos evidencia de que o exame das hastes pilosas com microscopia de luz polarizada - nao descrito previamente - contribui na diferenciacao de ambas doencas sugerindo que esse seja um metodo diagnostico util na distincao entre as sindromes de Chediak-Higashi e Griscelli Prunieras, especialmente nos casos em que estudos moleculares mais sofisticados nao estejam disponiveis.

26 citations


Journal ArticleDOI
TL;DR: Two cases with common presentation of silvery hair but varied systemic and clinical manifestations and survival in two cousin brothers from the same family are reported.
Abstract: Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as "silvery hair syndrome," consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. GS is also a rare autosomal recessive disorder characterized by reduced skin pigmentation, often regarded as partial albinism and silvery grey hair combined with immunodeficiency. To make correct diagnosis and to differentiate between CHS and GS, it requires light microscopic examination of skin and hair shafts, immunological and peripheral blood smear evaluation. They have been reported to be associated with some common clinical association as a part of the syndrome due to pigmentary delusion, neurological dysfunction, and severe life-threatening infections due to neutrophil phagocytosis dysfunction. There are reports of few rare associations and varied presentations and variable mean survival age. We report two cases with common presentation of silvery hair but varied systemic and clinical manifestations and survival in two cousin brothers from the same family.

25 citations


References
More filters

Book
01 Jan 1971
TL;DR: Introduction biology and pathophysiology of skin disorders presenting in the skin and mucous membranes dermatology and internal medicine diseases due to microbial agents therapeutics paediatric and geriatric dermatology.
Abstract: Introduction biology and pathophysiology of skin disorders presenting in the skin and mucous membranes dermatology and internal medicine diseases due to microbial agents therapeutics paediatric and geriatric dermatology.

4,327 citations


Book
01 Jan 1968
TL;DR: Diagnosis of skin disease neonate naevi and other developmental defects pruritus eczema lichenification, prurigo and erythroderma atopic dermatitis contact dermatitis irritants and sensitizers occupational dermatoses reactions to mechanical and thermal injury reactions to cold cutaneous photobiology.
Abstract: This latest edition continues its place as a would-be comprehensive encyclopaedia of the scope of dermatology with a vast array of disease states presented to the reader. For this new edition many chapters have been entirely rewritten to take account of the considerable advances in dermatology, and new contributors with specialized experience of the subject on which they write have joined the team.

1,738 citations


01 Jan 1987
Abstract: Summary. A case of paraganglioma of the filum terminale is presented where normal sympathetic ganglion cells were seen in conjunction with tumour cells in a well-encapsulated tumour, suggesting a possible origin from heterotopic sympathetic ganglion.

1,590 citations


01 Jan 2016
TL;DR: Granular cell tumor must be added to the differential diagnosis of epibulbar masses and Immunohistochemistry of the tumor in this case suggests an uncom­ mitted mesenchymal cell origin.
Abstract: (2) peculiar "taming" effect on monkeys in that aggression disappears, and (3) thalamic stimulation.2 Although the drug has been in clinical use since 1954, reports of toxicity have been scattered, and only one review of adverse responses has appeared.3 One death has been reported.4 The purpose of this communication is to present a case of meprobamate idiosyncrasy with skin bi¬ opsy and skin testing, to review the pub¬ lished reports to date, and to discuss possible etiologic factors in the pathogene¬ sis of the anaphylactoid reaction. The records of more than 6500 patients have been summarized to date.8"81 Twentythree cases of attempted suicide,6"19 and one hundred thirteen cases of idiosyncrasy have

1,565 citations


Journal ArticleDOI
TL;DR: It is concluded that partial albinism with immunodeficiency (Griscelli syndrome) can be differentiated from Chédiak-Higashi syndrome by pathognomonic histologic features.
Abstract: Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. To define the phenotype, therapy, and outcome, we retrospectively analyzed seven consecutive patients. Primary abnormalities included a silvery-grayish sheen to the hair, large pigment agglomerations in hair shafts, and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. Clinical onset occurred between the ages of 4 months and 4 years and was characterized by accelerated phases (lymphohistiocytic infiltration of multiple organs, including the brain and the meninges), triggered by viral and bacterial infections. Characteristic laboratory features included pancytopenia, hypofibrinogenemia, hypertriglyceridemia, and hypoproteinemia. Consistent immunologic abnormalities were characterized by absent delayed-type cutaneous hypersensitivity and impaired natural killer cell function. Some patients had secondary hypogammaglobulinemia, impaired major histocompatibility complex-mediated cytotoxic effects, a decreased capacity of lymphocytes to trigger a mixed lymphocyte reaction, or various functional granulocytic abnormalities. The disease seems to be invariably lethal without bone marrow transplantation; the mean age at the time of death was 5 years. Bone marrow transplantation has been performed in three cases; two patients died in the immediate posttransplantation period of infectious complications, but one patient is cured after a follow-up of 5 years. We conclude that partial albinism with immunodeficiency (Griscelli syndrome) can be differentiated from Chediak-Higashi syndrome by pathognomonic histologic features. One of the underlying immunologic defects may be a defective function of natural killer cells, predisposing the patient to virus-associated hemophagocytic syndrome or accelerated phases. The prognosis is very poor unless early bone marrow transplantation is carried out.

203 citations