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About 158 results

ALLMedicine™ Chediak-Higashi Syndrome Center

Research & Reviews  60 results

The retinal pigmentation pathway in human albinism: Not so black and white.
https://doi.org/10.1016/j.preteyeres.2022.101091
Progress in Retinal and Eye Research; Bakker R, Wagstaff PE et. al.

Jun 22nd, 2022 - Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with t...

Study of Chediak-Higashi Syndrome
https://clinicaltrials.gov/ct2/show/NCT00005917

Jun 16th, 2022 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.
https://doi.org/10.1080/15513815.2022.2077489
Fetal and Pediatric Pathology; Safavi M, Parvaneh N

May 25th, 2022 - Chediak-Higashi syndrome (CHS) is caused by dysfunction of lysosomal trafficking and presents with hypopigmentation, bleeding tendencies, neurological symptoms, and NK cell dysfunction. Hemophagocytic lymphohistiocytosis (HLH) can complicate CHS d...

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953685
International Journal of Environmental Research and Publi... Spodzieja K, Olczak-Kowalczyk D

Mar 26th, 2022 - Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorde...

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced ret...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893605
PloS One; Ji X, Zhao L et. al.

Mar 4th, 2022 - Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement ...

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Clinicaltrials.gov  1 results

Study of Chediak-Higashi Syndrome
https://clinicaltrials.gov/ct2/show/NCT00005917

Jun 16th, 2022 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

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News  2 results

Gray hair
http://www.mdedge.com/dermatology/article/138343/aesthetic-dermatology/gray-hair
Naissan O. Wesley, MD, Lily Talakoub, MD

May 16th, 2017 - Besides skin wrinkling, volume shifts, and photoaging, graying hair can also be a telltale sign of aging. While it was recently a fashionable trend for younger persons to dye their hair white or gray, graying hair can make a younger person appear.

Gray hair
https://www.mdedge.com/dermatology/article/138343/aesthetic-dermatology/gray-hair
Naissan O. Wesley, MD, Lily Talakoub, MD

May 16th, 2017 - Besides skin wrinkling, volume shifts, and photoaging, graying hair can also be a telltale sign of aging. While it was recently a fashionable trend for younger persons to dye their hair white or gray, graying hair can make a younger person appear.

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