64 results match your criteria: "Elejalde Syndrome"

Article Synopsis
  • Elejalde syndrome is a rare genetic disorder characterized by silvery-gray hair, neurological issues, and skin color changes, inherited in an autosomal recessive manner.
  • A 3.5-year-old boy with hemiplegia and severe seizures was diagnosed with Elejalde syndrome after a pathological examination of his hair confirmed the presence of characteristic melanin clumps.
  • This case highlights that neurological symptoms in Elejalde syndrome patients might not appear until later in life, contributing to the overall knowledge of the condition.
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Article Synopsis
  • VEXAS syndrome is an adult-onset autoinflammatory disease caused by postzygotic genetic variants, affecting males with symptoms like skin lesions, fever, and arthritis at a mean age of 67.5 years.
  • In a study of 42 patients, 30 were identified with pathogenic genetic variants and showed varying degrees of glucocorticoid dependence for symptom management.
  • The research revealed that these variants were present in both blood and non-blood tissues, challenging the previous understanding that these genetic changes were limited to myeloid (blood) cells.
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Slivers of Hair - A Clue to Uncover Silver Hair Syndromes.

Int J Trichology

April 2023

Department of Dermatology, Venereology and Leprology, Coimbatore Medical College and Hospital, Coimbatore, Tamil Nadu, India.

Article Synopsis
  • Silver Hair Syndromes (SHS) are rare genetic disorders, including Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease, with varying symptoms such as silvery hair and immunodeficiency.
  • CHS involves issues with vesicle trafficking and has neurological and bleeding complications, while GS presents with skin and hair hypopigmentation and pigment clumping; there are three types of GS, with GS1 and GS2 having neurological effects.
  • The report emphasizes the value of hair shaft microscopy for diagnosing SHS, illustrating its effectiveness through two case studies with distinct clinical features despite similar hair color presentations.
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Introduction: Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of "silvery hair syndromes" which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome. Hair light microscopy helps in the differentiation of GS and CHS, as both manifest with clinical features. Trichoscopy is useful in the diagnosis of many hair shaft disorders.

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Article Synopsis
  • Silvery Hair Syndromes (SHS) are a group of inherited disorders that include Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), Hermansky-Pudlak syndrome (HPS), and Elejalde syndrome, characterized by immunological and neurological issues, as well as a risk for hemophagocytic lymphohistiocytosis (HLH).
  • A study involving 12 SHS cases found that two-thirds presented with HLH, and among those, several received chemotherapy, with some progressing to successful hematopoietic stem cell transplants.
  • The findings suggest that chemotherapy followed by stem cell transplantation may offer a curative approach for SHS patients suffering from HLH,
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Article Synopsis
  • Congenital hypopigmentary disorders involve a variety of hereditary diseases that affect pigmentation in the iris, hair, and skin, including a specific group called Gray Hair Syndromes (GHSs).
  • GHSs, which include disorders like Griscelli syndrome, are characterized by symptoms that can affect multiple systems in the body, leading to severe complications.
  • The manuscript emphasizes the importance of detailed clinical exams and noninvasive techniques like trichoscopy for early diagnosis of these rare genetic syndromes to improve patient outcomes.
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The tarsal plate manifestation of IgG4-related disease.

Int Ophthalmol

July 2019

Department of Orbital Surgery, The Rotterdam Eye Hospital, P.O. Box 70030, 3000 LM, Rotterdam, The Netherlands.

Article Synopsis
  • - A 58-year-old woman was diagnosed with IgG4-related disease in her upper eyelids, characterized by swelling and ulceration, confirmed by biopsy showing increased IgG4-positive plasma cells
  • - The patient's serum IgG4 levels were elevated and specialized imaging revealed significant activity localized to her eyelids
  • - Treatment with oral and topical steroids resulted in substantial improvement of the eyelid lesions, indicating effective management of this specific condition
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Article Synopsis
  • Gray hair syndromes are rare, autosomal recessive disorders that cause skin and hair pigment loss, immunological issues, and nervous system defects; they include Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome.
  • Differentiating between CHS and GPS can be challenging due to overlapping symptoms, necessitating specific tests like light microscopy of skin/hair and blood smears; if those aren't definitive, chromosomal analysis may be performed.
  • In settings where advanced testing isn't available, polarized microscopy can help distinguish between CHS and GPS, as shown in three reported cases, highlighting it as a noninvasive and cost-effective diagnostic method.
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Article Synopsis
  • The text discusses three rare genetic disorders characterized by silvery hair: Chédiak-Higashi syndrome, Elejalde syndrome, and Griscelli syndrome.
  • It presents a case of a 2-month-old baby with silvery hair and skin hypopigmentation, but who didn't have any of the known disorders.
  • The baby's silvery hair was found to be a result of hypoproteinemia linked to congenital hydrops fetalis, and over time, the hair naturally returned to a brown color.
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Article Synopsis
  • A 6-year-old girl with CHS showed symptoms such as respiratory infections and speckled skin pigmentation, alongside similar indicators in her younger sisters.
  • The report emphasizes the rarity of CHS occurring in all three siblings, highlights the notable pigment changes, and stresses the importance of early detection and management to mitigate health complications.
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Article Synopsis
  • Elejalde Syndrome is a rare autosomal recessive condition marked by silvery hair, bronze skin after sun exposure, and severe central nervous system dysfunction.!* -
  • Key symptoms include large, unevenly distributed melanin granules in hair, abnormal melanocytes, and neurological issues like congenital seizures.!* -
  • A case study highlights a 10-year-old girl and her younger sister, both exhibiting these symptoms, born to parents who are closely related (consanguineous marriage).!*
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Silvery grey hair: clue to diagnose immunodeficiency.

Int J Trichology

April 2012

Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.

Article Synopsis
  • Silvery hair syndromes are rare autosomal recessive disorders that include Griscelli syndrome (GS), Chediak-Higashi syndrome, and Elejalde syndrome, all of which present with distinctive hair characteristics.
  • Griscelli syndrome specifically is marked by silvery-grey hair, large clumped melanosomes in the hair shaft, partial albinism, and varying degrees of immune system deficiencies.
  • The report discusses two cases of Griscelli syndrome that exhibit typical clinical features, along with supporting evidence from microscopic examinations of the skin and hair.
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Article Synopsis
  • Griscelli syndrome (GS) is a rare genetic disorder with three types, characterized mainly by partial albinism and various health complications depending on the type.
  • GS type 1 includes severe neurological issues, type 2 is associated with a life-threatening immune disorder, and type 3 primarily exhibits mild symptoms like pigmentary changes.
  • Early diagnosis and molecular characterization are crucial for understanding treatment options and prognosis, as seen in case reports of patients with types 1 and 3, highlighting significant differences in their health outcomes.
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Article Synopsis
  • Acrocephalopolydactylous dysplasia, also known as Elejalde syndrome, is an extremely rare condition with only six documented cases so far.
  • This study focuses on two infants diagnosed with Elejalde syndrome, examining their clinical and pathological features in comparison to previously known cases.
  • Findings include unique symptoms like cardiomegaly, cleft palate, and cryptorchidism, along with post-mortem histology showing hyperplasia of connective tissues, which is a key diagnostic indicator.
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Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations.

Int J Trichology

July 2011

Deparments of Dermatology, Venereology and Leprosy, PESIMSR, Kuppakm, Andhra Pradesh, India.

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.

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Article Synopsis
  • Mutations in the myosin Va gene lead to neurological diseases like Griscelli syndrome type 1 and Elejalde syndrome in humans, impacting both humans and rodents such as dilute-neurological (d-n) mice.
  • An in-depth study using d-n mice revealed that young mice had significant deficits in motor function and cerebellum-dependent learning due to poor development of smooth endoplasmic reticulum and a lack of IP(3) receptors in their Purkinje cells.
  • By adulthood, d-n mice showed improvement in motor learning and synaptic function, linked to increased presence of myosin Va proteins and a recovery of the cellular structure, although they continued to struggle with motor coordination.
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Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.

J Craniofac Surg

March 2009

Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

Article Synopsis
  • * It categorizes craniosynostosis into anatomically and genetically defined types, including both well-known syndromes like Muenke and Pfeiffer, as well as more unusual ones.
  • * Most of these syndromes are linked to specific genetic mutations, including five related to fibroblast growth factor receptor (FGFR) mutations, while some inherit through Mendelian patterns but lack known molecular causes.
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Neurodegenerative disorders with hair abnormalities: an emergency room consultation for dermatologists.

Int J Trichology

January 2009

Departments of Dermatology, Venereology and Leprosy, SBMP Medical College, Hospital and Research Center, BLDE University, Bijapur, Karnataka, India.

Article Synopsis
  • Menke's syndrome and Elejalde disease are neurodegenerative disorders that have noticeable hair changes, which can help with diagnosis.
  • These disorders are particularly relevant in resource-poor areas where advanced genetic testing isn't accessible.
  • A basic light microscopic examination of hair can serve as a useful diagnostic method for identifying these conditions.
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Background: Myosin Va is a motor protein involved in vesicular transport and its absence leads to movement disorders in humans (Griscelli and Elejalde syndromes) and rodents (e.g. dilute lethal phenotype in mice).

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Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.

Braz J Med Biol Res

October 2008

Departamento de Biologia Celular e Molecular e Bioagentes Patogênicos, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.

Article Synopsis
  • Griscelli syndrome (GS) is a rare genetic disorder linked to mutations in MYO5A, RAB27A, or MLPH genes, resulting in symptoms like pigmentary dilution and silvery-gray hair.
  • The report focuses on a case of GS2 diagnosed in 3-year-old twin siblings, presenting immunodeficiency, hepatosplenomegaly, and severe neurological issues leading to organ failure and death.
  • A specific mutation in the RAB27A gene was identified, and the study includes a summary of RAB27A's genetic structure, a review of other GS2 cases, and a proposed flow chart for early diagnosis of GS subtypes.
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Silvery hair with bronze-tan in a child: A case of Elejalde disease.

Indian J Dermatol Venereol Leprol

February 2008

Department of Dermatology, Venereology and Leprosy, BLDEA's SBMP Medical College, Hospital and Research Centre, Bijapur, Karnataka, India.

Article Synopsis
  • A 5-year-old boy was hospitalized due to significant neurological issues like low muscle tone and loss of consciousness, with no fever beforehand.
  • He presented with unusual silver hair and bronze skin in areas exposed to sunlight, and had a family history of similar traits and early sibling deaths.
  • After various tests showed no clear abnormalities, he was diagnosed with Elejalde disease, and the details of the condition were discussed in relation to other similar syndromes.
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Article Synopsis
  • Elejalde syndrome is a rare genetic disorder characterized by distinctive features such as silvery hair and hypopigmentation from birth, along with severe central nervous system dysfunction.
  • A case study of an Egyptian male highlights the syndrome, showing brain abnormalities like cerebellar atrophy and hair samples with irregular melanin distribution.
  • The report emphasizes the importance of differential diagnosis, comparing Elejalde syndrome with similar conditions like Griscelli and Chediak-Higashi syndromes, while also reviewing existing literature on the topic.
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Article Synopsis
  • Omphalocele is a condition where the intestines or other organs protrude through the abdominal wall at birth and is linked to various genetic and developmental disorders.
  • The article reviews numerous omphalocele-related syndromes, including well-known ones like CHARGE syndrome, as well as less common disorders, outlining their connections to omphalocele.
  • Early detection of omphalocele during pregnancy is crucial for identifying related disorders and highlights the need for comprehensive genetic counseling for affected families.
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Elejalde syndrome--a case report.

Am J Med Genet A

October 2006

Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic.

Article Synopsis
  • Elejalde syndrome, or acrocephalopolydactylous dysplasia, is a rare genetic condition characterized by craniosynostosis and excessive fibroblast growth in various tissues like skin and organs.
  • A recent study describes a sixth patient with this syndrome, emphasizing its distinctive features and genetic origin.
  • The condition is caused by a specific autosomal recessive mutation, with researchers proposing a link to a mutation that inactivates the FGFR gene.
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