The melanosomes are present in the center of melanocytes but must be transported to the outer part of the cells and into other cells in order to provide the pigmentation. [mybiosource.com]

We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. [onlinelibrary.wiley.com]

Primary neurological presentation without the accelerated phase is rare in type 2. [journals.sagepub.com]

A very close differential diagnosis of GS is Chediak–Higashi syndrome, which also presents with partial albinism and recurrent infections. [idoj.in]

• Turkish

  Most cases are reported in Turkish and Mediterranean populations. Griscelli syndrome is an autosomal recessive condition meaning that two defective genes are inherited, one from each parent. [dermnetnz.org]

  GS is very rare in almost all populations, although most cases have been reported from Turkish and Mediterranean populations. [idoj.in]

  Hemophagocytic Lymphohistiocytosis. 6 Zhang M...Cron RQ 26880764 2016 22 Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. 6 Tesi B...Bryceson YT 26684649 2015 23 Prognostic Factors and Long-Term Outcome in 52 Turkish [malacards.org]

  It was first described by Griscelli in 1978, and since then only approximately 60 cases have been reported, mostly from the Turkish and Mediterranean populations [2]. [escholarship.org]

• Abdominal Distension

  Furthermore the boy presented a progressive abdominal distension since birth, progressive pallor and recurrent episodes of fever since 1 year of age. There was history of blood transfusions for last 2 months. [panafrican-med-journal.com]

• Abdominal Pain

  There was no history of fever, jaundice, abdominal pain, convulsions, or photosensitivity. He was born out of nonconsanguineous marriage, with uneventful antenatal or perinatal period. His physical development was normal. [idoj.in]

• Jaundice

  There was no history of fever, jaundice, abdominal pain, convulsions, or photosensitivity. He was born out of nonconsanguineous marriage, with uneventful antenatal or perinatal period. His physical development was normal. [idoj.in]

  […] liver 0002240 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Iris hypopigmentation Light eye color 0007730 Jaundice [rarediseases.info.nih.gov]

  On the other side there was no history of jaundice, vomiting, urinary or bowel complaints, bleeding from any site or neurological complaints. [panafrican-med-journal.com]

Treatment Treatment Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

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

[…] of skin and hair without any systemic involvement. [6] The prognosis for patients with GS3 is good, and these patients do not require any treatment. [idoj.in]

Diagnosis and Treatment Diagnosis of this syndrome may be considered when individuals are presented with silver hair accompanied with neurological and immune system disorder. [mybiosource.com]

Multiple liver biopsies revealed centrilobular cholestasis and unspecific portal inflammation that improved with immunomodulatory treatment. She was revealed to have an impaired cytotoxicity in NK cells and a decreased expression of RAB27A. [onlinelibrary.wiley.com]

Although phenotypically similar, prognosis of each type varies depending on neurological or hematological findings. [idoj.in]

The prognosis of GS2 is poor, with death in early childhood due to HLH and its complications. [cdriadvlkn.org]

Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS [ 19 ]. [omicsonline.org]

Prognosis is poor and accelerated phases with HLH can be fatal. Average age at death is 5 years. [9] The only possibility of curing this disease is bone marrow transplantation or peripheral blood stem cell transplantation. [ijpmonline.org]

[…] of MAS is usually marked by a sharp rise of ferritin, often above 5000-10,000 ng/mL it has been suggested that measurement of serum ferritin level may assist in the diagnosis of MAS and is a useful indicator of disease activity, therapy response and prognosis [panafrican-med-journal.com]

Etiology The condition is characterized by impaired downregulation of activated macrophages, which accumulate in tissues and overproduce cytokines, resulting in organ damage. Acute episodes often have a trigger such as infection. [radiopaedia.org]

This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. [panafrican-med-journal.com]

Due to its rarity, epidemiologic data are still lacking. Hyperferritinemia is frequently associated with MAS and might modulate the cytokine storm, which is involved in the development of multiple organ failure. [panafrican-med-journal.com]

Figure 3: (a and b) Pathophysiology of Griscelli syndrome and pathogenesis of Griscelli syndrome type 2 Click here to view The genetic abnormality and clinical presentation of the three types of GS are summarized in [Table 1]. [1], [2], [3], [4], [5], [ijpmonline.org]

The pathophysiological mechanism resulting in this morphological abnormality has been examined using electron microscopic and histochemical methods, and is thought to be a consequence of “softening” of the hair cortex, possibly secondary to abnormal composition [jcp.bmj.com]

The genetic mutation affects the transportation of melanosomes thus trapping them in the center of the melanocytes preventing the normal pigmentation of the eyes, hair and skin. [mybiosource.com]

As a result, these structures clump near the center of melanocytes, trapping melanin within these cells and preventing normal pigmentation of skin and hair. [ghr.nlm.nih.gov]

Before major procedures, a drug to prevent excessive bleeding, DDVAP, can be administered. Other than these options, treatment of CHS is symptomatic. [rarediseases.org]

Prevention Morphologic examination of peripheral blood or cultured amniotic and chorionic villi cells can help in prenatal diagnosis of Griscelli syndrome. [emedicine.medscape.com]