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Actas Dermo-sifiliograficas Sep 2005Prurigo pigmentosa is an infrequent inflammatory dermatosis of unknown etiology, characterized by recurrent episodes of pruritic erythematous papules which develop into... (Review)
Review
Prurigo pigmentosa is an infrequent inflammatory dermatosis of unknown etiology, characterized by recurrent episodes of pruritic erythematous papules which develop into intense reticulated pigmentation. It has been referenced most frequently in young women in Japan. Only thirty cases have been described outside of Japan. We describe a 32-year-old Spanish female who developed a pruritic dermatosis with the clinical characteristics and histopathological findings of prurigo pigmentosa. We review the epidemiological, clinical and histopathological characteristics of this peculiar skin disease.
Topics: Adult; Female; Humans; Pigmentation Disorders; Prurigo
PubMed: 16476271
DOI: 10.1016/s0001-7310(05)73108-2 -
American Journal of Human Genetics Sep 1977Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the... (Review)
Review
Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Child; Child, Preschool; Deafness; Eyelid Diseases; Eyelids; Female; Genes, Dominant; Humans; Male; Middle Aged; Pedigree; Phenotype; Pigmentation Disorders; Waardenburg Syndrome
PubMed: 331943
DOI: No ID Found -
The Journal of Investigative Dermatology Nov 2011
Topics: Animals; Humans; Melanins; Melanocytes; Mutation; Pigmentation; Pigmentation Disorders; Skin Physiological Phenomena
PubMed: 22094398
DOI: 10.1038/skinbio.2011.1 -
American Family Physician Nov 2013
Topics: Diagnosis, Differential; Female; Humans; Middle Aged; Pigmentation Disorders; Scleroderma, Systemic
PubMed: 24364488
DOI: No ID Found -
The Tohoku Journal of Experimental... Mar 2007The skin is armored with "dead cells", the stratum corneum, and is continuously exposed to external stressful environments, such as atmospheric oxygen, solar radiations,... (Review)
Review
The skin is armored with "dead cells", the stratum corneum, and is continuously exposed to external stressful environments, such as atmospheric oxygen, solar radiations, and thermal and chemical insults. Melanocytes of neural crest origin are located in the skin, eye, inner ear, and leptomeninges. Melanin pigment in the skin is produced by melanocytes under the influence of various endogenous factors, derived from neighboring keratinocytes and underlying fibroblasts. The differentiation and functions of melanocytes are regulated at multiple processes, including transcription, RNA editing, melanin synthesis, and the transport of melanosomes to keratinocytes. Impairment at each step causes the pigmentary disorders in humans, with the historical example of oculocutaneous albinism. Moreover, heterozygous mutations in the gene coding for microphthalmia-associated transcription factor, a key regulator for melanocyte development, are associated with Waardenburg syndrome type 2, an auditory-pigmentary disorder. Sun tanning, melasma, aging spots (lentigo senilis), hair graying, and melanoma are well-known melanocyte-related pathologies. Melanocytes therefore have attracted much attention of many ladies, makeup artists and molecular biologists. More recently, we have shown that lipocalin-type prostaglandin D synthase (L-PGDS) is expressed in melanocytes but not in other skin cell types. L-PGDS generates prostaglandin D2 and also functions as an inter-cellular carrier protein for lipophilic ligands, such as bilirubin and thyroid hormones. Thus, melanocytes may exert hitherto unknown functions through L-PGDS and prostaglandin D2. Here we update the neuroendocrine functions of melanocytes and discuss the possible involvement of melanocytes in the control of the central chemosensor that generates respiratory rhythm.
Topics: Animals; Cell Differentiation; Humans; Intramolecular Oxidoreductases; Lipocalins; Melanins; Melanocytes; Mice; Microphthalmia-Associated Transcription Factor; Neurons; Pigmentation Disorders; Prostaglandin D2; Skin; Stress, Physiological
PubMed: 17347546
DOI: 10.1620/tjem.211.201 -
Indian Journal of Dermatology,... 2011
Topics: Diagnosis, Differential; Female; Humans; Low-Level Light Therapy; Mouth Mucosa; Pigmentation Disorders; Syndrome; Young Adult
PubMed: 21727718
DOI: 10.4103/0378-6323.82422 -
Pigment Cell & Melanoma Research Mar 2021Pigmentation abnormalities are reported in the spectrum of phenotypes associated with aging and in patients with mitochondrial DNA depletion syndrome (MDS). Yet, a...
Pigmentation abnormalities are reported in the spectrum of phenotypes associated with aging and in patients with mitochondrial DNA depletion syndrome (MDS). Yet, a relevant animal model that mimics these effects and would allow us to evaluate the detrimental aspects of mtDNA depletion on melanocyte function has not been described. Here, we characterize the pigmentary changes observed in the ears of a mtDNA-depleter mouse, which phenotypically includes accentuation of the peri-adnexal pseudonetwork, patchy hyper- and hypopigmentation, and reticular pigmentation. Histologically, these mice show increased epidermal pigmentation with patchy distribution, along with increased and highly dendritic melanocytes. These mtDNA-depleter mice mimic aspects of the cutaneous, pigmentary changes observed in humans with age-related senile lentigines as well as MDS. We suggest that this mouse model can serve as a novel resource for future interrogations of how mitochondrial dysfunction contributes to pigmentary skin disorders. The mtDNA-depleter mouse model also serves as a useful tool to identify novel agents capable of treating pigmentary changes associated with age-related mitochondrial dysfunction in humans.
Topics: Animals; DNA, Mitochondrial; Disease Models, Animal; Female; Humans; Male; Mice; Pigmentation Disorders; Skin Pigmentation
PubMed: 33448673
DOI: 10.1111/pcmr.12921 -
TheScientificWorldJournal Aug 2010Alkaptonuria is a rare, autosomal-recessive disease of tyrosine degradation resulting from accumulation of homogentisic acid (HGA) within the body due to deficiency of...
Alkaptonuria is a rare, autosomal-recessive disease of tyrosine degradation resulting from accumulation of homogentisic acid (HGA) within the body due to deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase[1]. HGD is the gene encoding homogentisate 1,2-dioxygenase and is the only gene known to be associated with alkaptonuria. In this patient the disease also manifested itself with symmetric blue-gray discoloration on the helix cartilage of his ears. The initial diagnosis of alkaptonuria was made some 20 years earlier because of the appearance of low back pain and dark urine. HGA is responsible for the black color of urine and is deposited in the cartilage of the body, including ears.
Topics: Alkaptonuria; Ear; Genetic Predisposition to Disease; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Humans; Male; Middle Aged; Pigmentation Disorders
PubMed: 20694448
DOI: 10.1100/tsw.2010.147 -
Pediatric Dermatology Jul 2020
Topics: Epidermal Cyst; Humans; Pigmentation Disorders; Skin Neoplasms
PubMed: 32706480
DOI: 10.1111/pde.14223 -
The Journal of Investigative Dermatology Nov 2021Visible light (VL) can induce pigmentary alterations, especially in dark-skinned individuals, and exacerbate photodermatoses and pigmentary disorders. Currently, there... (Review)
Review
Visible light (VL) can induce pigmentary alterations, especially in dark-skinned individuals, and exacerbate photodermatoses and pigmentary disorders. Currently, there is no standardized method for assessing sunscreen protection against VL. On the basis of a critical review of published in vitro and in vivo methods, a VL photoprotection assessment method based on pigmentation is proposed.
Topics: Humans; Light; Pigmentation Disorders; Reactive Oxygen Species; Sunscreening Agents; Ultraviolet Rays
PubMed: 34112516
DOI: 10.1016/j.jid.2021.03.012