Open AccessBook Chapter
Hypomelanoses and hypermelanoses
Hilde Lapeere,Barbara Boone,Sofie De Schepper,Evelien Verhaeghe,Katia Ongenae,Nanja van Geel,Jo Lambert,Lieve Brochez,Jean-Marie Naeyaert +8 more
- pp 622-640
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TLDR
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, 2001read more
Citations
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Human skin pigmentation: melanocytes modulate skin color in response to stress
TL;DR: This review provides an updated overview of important physiological and biological factors that increase pigmentation and the mechanisms by which they do so and considers endo‐crine factors that induce temporary or permanent changes in skin color.
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Kojic acid applications in cosmetic and pharmaceutical preparations.
TL;DR: KA has the ability to act as a UV protector, suppressor of hyperpigmentation in human and restrainer of melanin formation, due to its tyrosinase inhibitory activity and could be developed as a chemo sensitizer to enhance efficacy of commercial antifungal drugs or fungicides.
Journal ArticleDOI
Vitiligo: compendium of clinico-epidemiological features.
TL;DR: Vitiligo, an autoimmune disorder characterized by localized and/or generalized depigmentation of the skin and/ or mucous membranes, is a well-recognized entity that is associated with cutaneous, ocular and systemic disorders.
Journal ArticleDOI
A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes
TL;DR: The basic concepts of melanocyte biology are summarized and how molecular defects in melanocyte development and function can result in the development of hypopigmentary hereditary skin diseases are discussed.
Journal ArticleDOI
Hyperpigmentation and melasma
TL;DR: This work reviews pathogenesis, clinical and histopathological data, effect on quality of life, and treatment options in facial hyperpigmentation disorders and suggests treatment options including drug‐induced and postinflammatory hyperpIGmentation.
References
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Journal ArticleDOI
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
TL;DR: Melanogenesis is a highly structured system, active since early embryogenesis and capable of superselective functional regulation that may reach down to the cellular level represented by single melanocytes, and its significance extends beyond the mere assignment of a color trait.
Journal ArticleDOI
A telomerase component is defective in the human disease dyskeratosis congenita
TL;DR: It is found that primary fibroblasts and lymphoblasts from DKC-affected males are not detectably deficient in conventional H/ACA small nucleolar RNA accumulation or function; however, DKC cells have a lower level of telomerase RNA, produce lower levels of telomersase activity and have shorter telomeres than matched normal cells.
Journal ArticleDOI
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.
Dieter E. Jenne,Heike Reimann,J.-I. Nezu,W. Friedel,Steffan Loff,R. Jeschke,Oliver Müller,Walter Back,Michael Zimmer +8 more
TL;DR: It is concluded that germline mutations in STK11, probably in conjunction with acquired genetic defects of the second allele in somatic cells, cause the manifestations of PJ syndrome.
Journal ArticleDOI
Syndrome Characterized by Osteitis Fibrosa Disseminata, Areas of Pigmentation and Endocrine Dysfunction, with Precocious Puberty in Females
Journal ArticleDOI
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Tom Vulliamy,Anna Marrone,Frederick D. Goldman,Andrew Dearlove,Monica Bessler,Philip J. Mason,Inderjeet Dokal +6 more
TL;DR: The gene responsible for dyskeratosis congenita is mapped in a large pedigree with autosomal dominant inheritance and affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3′ 74 bases of hTR.