The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Manuel Rodriguez Gomez Butterworth-Heinemann, ٢٢‏/١٠‏/٢٠١٣ - 414 من الصفحات Neurocutaneous Diseases is a systematic presentation limited to diseases that affect both of the nervous system and skin of humans. [books.google.com]

Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. Differential diagnosis with Chédiak-Higashi syndrome and Griscelli syndrome must be done. [wwww.unboundmedicine.com]

Primary neurological presentation is rare. [casereports.in]

GS type 3 presents with hypopigmentation of skin and hair without any systemic involvement. No treatment is required. [aad.org]

• Weakness

  The mother noticed progressive weakness of the lower limbs (right more than left limb) initially which progressed to involve the trunk muscles and later the upper limbs. The progressive weakness resulted in regression of milestones. [symbiosisonlinepublishing.com]

  […] pigment aggregation in hair shafts Anemia Neoplasm Long philtrum Neoplasm of the skin Hyperlipidemia Abnormality of the ear Alopecia of scalp Abnormality of calvarial morphology Spotty hypopigmentation Absent pigmentation of the ventral chest Muscle weakness [mendelian.co]

  Since the past 2 weeks, he had developed a gradual weakness of all the four limbs followed by altered sensorium. There was no preceding febrile illness or convulsion. With progressive loss of consciousness, he was brought to the hospital. [bioline.org.br]

  A few months later she complained of weakness in her legs that progressed to severe hypotony involving the entire body. Patient 6 first developed atactic cerebellar movements. [jamanetwork.com]

• Unconsciousness

  Clinical examination revealed an unconscious, fair-complexioned baby (as compared to parents and other siblings) with flat nasal bridge and pudgy cheeks [Figure 1]. [ijtrichology.com]

• Anosmia

  254 Chapter 28 RuvalcabaMyhre Syndrome 261 DISEASES WITH XLINKED INHERITANCE 263 Chapter 29 FabryAnderson Disease 265 Chapter 30 Adrenoleukodystrophy 273 Chapter 31 Kinky Hair Disease 284 Chapter 32 Incontinentia Pigmenti 293 Chapter 33 A Syndrome of Anosmia [books.google.com]

  Syndrome 26 Progeria 27 Neuroectodermal Melanolysosomal Disease 28 Ruvalcaba-Myhre Syndrome Part Three / Diseases with X-Linked Inheritance 29 Fabry-Anderson Disease 30 Adrenoleukodystrophy 31 Kinky Hair Disease 32 Incontinentia Pigmenti 33 A Syndrome of Anosmia [elsevier.com]

• Diplopia

  Ophthalmologic abnormalities include nystagmus, diplopia, amaurosis and absence of pupillary reflex. [4] Pigmentary abnormalities are the second common clinical feature which include silvery hair, a gradual bronze-colored tan of the sun-exposed areas [bioline.org.br]

  These include seizure, severe hypotonia, focal neurodeficits like flaccid/spastic paraplegia, quadriplegia, or ataxia. [9] Ocular abnormalities are common manifesting as nystagmus or diplopia. [ijtrichology.com]

  […] inheritance Abnormality of vision Wide nasal bridge Synophrys Aganglionic megacolon Malabsorption Albinism Peripheral neuropathy Heterochromia iridis White forelock White eyelashes White eyebrow Piebaldism Abnormal bleeding Ocular albinism Cirrhosis Diplopia [mendelian.co]

• Dysplastic Ears

  ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. [malacards.org]

• Increased Birth Weight

  Affiliated tissues include skin, kidney and bone, and related phenotypes are hypertelorism and short neck OMIM : 58 Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight [malacards.org]

• Acrocephaly

  […] short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly [malacards.org]

• Cryptorchidism

  […] skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism [malacards.org]

Sepsis workup and CSF study including cytospin for malignant cells were negative. LDH was mildly elevated and serum ferritin, fibrinogen levels, triglycerides were normal ruling out possibility of hemo-phagocytosis [Table 1]. [casereports.in]

Management and treatment Treatment for ES remains limited: corticosteroids, anticonvulsants and antipyretics fail to prevent early death from severe neurologic dysfunction. [orpha.net]

There is currently no effective treatment. « Pityriasis Alba & Skin Pigmentation Griscelli Syndrome & Skin Pigmentation » [healthcentre.org.uk]

However, he did not respond to treatment and died. [scielo.br]

Treatment is with an allogeneic hematopoietic stem cell transplantation. [aad.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Prognosis - Hypomelanotic disorder Not supplied. Treatment - Hypomelanotic disorder Not supplied. Resources - Hypomelanotic disorder Not supplied. [checkorphan.org]

Prognosis All cases of Elejalde syndrome but one have been reported as being fatal; therefore, the prognosis is suboptimal. Patients with Elejalde syndrome undergo neurologic collapse and eventually are not able to move or care for themselves. [emedicine.medscape.com]

The prognosis of patients with Griscelli syndrome is grave. Curative hope is offered only by bone marrow or stem cell transplantation, which is more successful when, performed early in the course of the disease(8). [indianpediatrics.net]

Etiology The etiology of ES is still unknown, but recent molecular data have shed light on the complex relationship that exists between ES and the Griscelli syndrome (see this term). [orpha.net]

Etiology mutations in MYO5A, which codes for an actin-based molecular motor. [humpath.com]

Etiology Biochemical pathway leading to melanin production. Note that Tyrosinase is essential for the first two steps of the pathway. [eyewiki.aao.org]

- Elejalde disease - Elejalde syndrome Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology The syndrome was first described in 1979 in three consanguineous families. To date, about 20 patients have been reported in the literature. [orpha.net]

Relevant External Links for MYO5A Genetic Association Database (GAD) MYO5A Human Genome Epidemiology (HuGE) Navigator MYO5A Atlas of Genetics and Cytogenetics in Oncology and Haematology: MYO5A No data available for Genatlas for MYO5A Gene Cloning, analysis [genecards.org]

Chabchoub E, Willekens D, Vermeesch J, Fryns JP: Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated. Clin Genet 2011, Epub ahead of print. [karger.com]

Pathophysiology The pathophysiology of Elejalde syndrome is not fully understood. Some have stated that it is the result of a distorted gene product responsible for early melanin formation. [emedicine.medscape.com]

Management and treatment Treatment for ES remains limited: corticosteroids, anticonvulsants and antipyretics fail to prevent early death from severe neurologic dysfunction. [orpha.net]

[…] type 1 Vogt-Koyanagi-Harada syndrome Hydroquinone Idiopathic guttate hypomelanosis Onchocerciasis Pinta Menke disease Yemenite deaf-blind hypopigmentation syndrome Anetoderma Azelaic acid Angelman\'s syndrome Tuberous sclerosis Anemia Actinic granuloma Prevention [checkorphan.org]

For long term storage, store at -20C in small aliquots to prevent freeze-thaw cycles. [avivasysbio.com]

In summary, the silvery-greyish hair associated with fever, pancytopenia and hypertriglyceridemia is the clue to early diagnosis of Griscelli syndrome and important to prevent death before stem cell transplantation. 1. [e-ijd.org]

With proper secondary prevention and supportive care for UV protection, the risk of skin cancer may be drastically reduced [4], [61], [62], [63]. Lee, KA (2012). [eyewiki.aao.org]