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1.
Photochem Photobiol Sci ; 22(8): 1889-1899, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37193818

ABSTRACT

The exposure to UVA (320-400 nm) irradiation is a major threat to human skin concerning photoaging and carcinogenesis. It has been shown that UVA irradiation can induce reactive oxygen species (ROS) and DNA mutations, such as 8-hydroxydeoxyguanosine. Furthermore, UVA induces the expression of photoaging-associated matrix metalloproteases (MMPs), especially of matrix metalloprotease 1 (MMP 1) and matrix metalloprotease 3 (MMP 3). In addition to this, it was recently shown that UVA-induced ROS also increase glucose metabolism of melanoma cells, however, the influence of UVA on the glucose metabolism of non-malignant cells of the human skin has, so far, not been investigated in detail. Here, we investigated the UVA-induced changes in glucose metabolism and the functional relevance of these changes in primary fibroblasts-normal non-malignant cells of the skin. These cells showed an UVA-induced enhanced glucose consumption and lactate production and changes in pyruvate production. As it has been proposed that pyruvate could have antioxidant properties we tested the functional relevance of pyruvate as protective agent against UVA-induced ROS. Our initial experiments support earlier publications, demonstrating that pyruvate treated with H2O2 is non-enzymatically transformed to acetate. Furthermore, we show that this decarboxylation of pyruvate to acetate also occurs upon UVA irradiation. In addition to this, we could show that in fibroblasts pyruvate has antioxidant properties as enhanced levels of pyruvate protect cells from UVA-induced ROS and partially from a DNA mutation by the modified base 8-hydroxydeoxyguanosine. Furthermore, we describe for the first time, that the interaction of UVA with pyruvate is relevant for the regulation of photoaging-associated MMP 1 and MMP 3 expression.


Subject(s)
Antioxidants , Skin Aging , Humans , Antioxidants/pharmacology , Antioxidants/metabolism , Matrix Metalloproteinase 1/genetics , Matrix Metalloproteinase 1/metabolism , Matrix Metalloproteinase 3/metabolism , Reactive Oxygen Species/metabolism , 8-Hydroxy-2'-Deoxyguanosine/metabolism , Hydrogen Peroxide/metabolism , Skin/radiation effects , Glucose , Pyruvates/pharmacology , Pyruvates/metabolism , Ultraviolet Rays , Fibroblasts/metabolism , Cells, Cultured
2.
Photochem Photobiol Sci ; 21(3): 361-372, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35174452

ABSTRACT

The damaging effects of solar ultraviolet (UV) radiation exposure to human skin are well known and can reach from accelerated skin aging (photoaging) to skin cancer. Much of the damaging effects of solar UVA (320-400 nm) radiation is associated with the induction of reactive oxygen species (ROS), which are capable to cause oxidative damage to DNA like the oxidized guanosine 8-hydroxy-2' -deoxyguanosine (8-OHdG). Therefore, new UV protective strategies, have to be tested for their efficiency to shield against UV induced damage. We investigated the protective effects of HelioVital sun protection filter foil against UVA1 irradiation in skin cells. It could be shown, that HelioVital sun protection filter foil has protective effects against UVA1 irradiation induced changes in matrix metalloproteinase (MMP) expression. Furthermore a UVA1-dependant regulation of MMP15 in human fibroblasts could be shown for the first time in this context. In addition, this study demonstrated the protective effect of the HelioVital filter film against UVA1-induced ROS production and DNA damage. These results could pave the way for clinical studies with HelioVital filter foil shielding against the damaging effects of phototherapy and other forms of irradiation therapy, thereby increasing the safety and treatment opportunities of these forms of therapy.


Subject(s)
DNA Damage , Matrix Metalloproteinases , Radiation Protection , Skin , DNA/metabolism , Humans , Matrix Metalloproteinases/metabolism , Protective Clothing , Skin/enzymology , Skin/radiation effects , Ultraviolet Rays
3.
J Eur Acad Dermatol Venereol ; 36(2): 305-312, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34543473

ABSTRACT

BACKGROUND: Laser pulses with nanosecond duration (NSL) have been the golden standard to destroy the pigment particles in skin. It is still controversially discussed whether picosecond pulses (PSL) are superior for tattoo removal. OBJECTIVES: To compare the efficacy and the adverse reactions of nanosecond and picosecond laser pulses in a comparative study. METHODS: The prospective study included 23 subjects with 30 black or coloured tattoos, which were split into two halves treated with either a new PSL (532, 1064 nm) or standard NSL (694 nm). The lasers were applied at regular time intervals of 4 weeks for up to eight treatments. Tattoo clearance (primary endpoint), pain and adverse reactions (secondary endpoints) were appraised by physicians, blinded observers, and by subjects. The extent and duration of adverse reactions were additionally assessed by using a questionnaire and photo-documentation after each treatment session. RESULTS: The tattoo clearance appeared to be more effective for PSL compared to NSL but without statistical significance (P > 0.05). Pretreated tattoos responded better to laser treatments than previously untreated tattoos. Subjects felt significantly less pain with PSL than with NSL (P < 0.001). Transient adverse reactions were statistically less pronounced lasting shorter for PSL as for NSL, especially blistering, pruritus, and burning sensation. Hypopigmentation appeared after NSL treatments only, whereas hyperpigmentation was caused by both lasers. No scarring was detected with either laser. CONCLUSIONS: Both laser systems enable acceptable clearance of most tattoos in the present study. PSL cause less collateral skin damage as compared to NSL.


Subject(s)
Hypopigmentation , Laser Therapy , Lasers, Solid-State , Plastic Surgery Procedures , Tattooing , Humans , Laser Therapy/adverse effects , Lasers , Lasers, Solid-State/adverse effects , Prospective Studies , Tattooing/adverse effects
4.
J Eur Acad Dermatol Venereol ; 36(11): 2172-2180, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35748133

ABSTRACT

BACKGROUND: Polymorphous light eruption (PLE) is a common, immunologically mediated, photosensitive skin disease. After ultraviolet-B (UV-B) irradiation, patients with PLE show reduced Langerhans cell (LC) depletion in the epidermis, which results in a non-suppressive microenvironment in the skin. Interestingly, severe acute graft-versus-host disease (aGvHD) occurred in stem cell transplanted patients that showed no or incomplete depletion of LCs after UVB irradiation. Genetic variation in nucleotide-binding oligomerization domain 2 (NOD-2) and toll-like receptor 5 (TLR-5) genes also confers susceptibility to aGvHD. OBJECTIVES: We hypothesized that PLE is associated with genetic variation in the NOD-2 and TLR-5 genes. METHODS: We investigated single-nucleotid polymorphisms (SNPs) of NOD-2 (R702W, G908R, 3020Cins) and TLR-5 (A592S, P616L, N392STOP) in skin biopsies of patients with PLE (n = 143) and in healthy controls (n = 104) using restriction fragment length polymorphism analysis. RESULTS: The frequency of NOD-2 alleles with the SNP R702W was significantly higher in PLE than in controls (31.8% vs. 6.3%; P < 0.0001), and homozygous carriers of this mutation were more common in PLE (27.9% vs. 0%; P < 0.0001). For SNP 3020Cins, the allele frequency (7.3% vs. 0.7%; P = 0.0025) and the number of heterozygotes (14.7% vs. 1.3%; P = 0.0019) were higher in PLE. The frequency of alleles with the N392STOP SNP of the TLR5 gene, which is associated with a truncated, non-functional receptor, was significantly higher in PLE (21% vs. 5%; 7% vs. 1% homozygotes, 28% vs. 8% heterozygotes; P < 0.0001). The other SNPs did not differ significantly. CONCLUSIONS: This study yielded a high frequency of functional SNPs in the NOD-2 and TLR-5 genes in PLE. The same SNPs are associated with aGvHD and there are similarities in the reaction of LCs after UVB irradiation between aGvHD and PLE. This leads to the hypothesis that patients with PLE may be more susceptible to developing GvHD after stem cell transplantation, an assumption that needs to be investigated further.


Subject(s)
Dermatitis, Contact , Nod2 Signaling Adaptor Protein/genetics , Photosensitivity Disorders , Toll-Like Receptor 5/genetics , Humans , Nucleotides , Photosensitivity Disorders/pathology , Polymorphism, Genetic , Ultraviolet Rays/adverse effects
5.
Hautarzt ; 73(4): 251-256, 2022 Apr.
Article in German | MEDLINE | ID: mdl-35146544

ABSTRACT

Solar radiation contains about 6.8% ultraviolet (UV) radiation. UV radiation is still regarded as one of the most important risk factors for both nonmelanoma skin cancer (NMSC; predominantly basal cell carcinoma and squamous cell carcinoma) and malignant melanoma (MM). To avoid induction and persistence of UV-induced mutations, our skin is armed with an arsenal of endogenous protective mechanisms such as induction of cell cycle arrest, repair mechanisms, immunosurveillance and the initiation of various types of cell death. Exogenous sun protection includes a range of behaviors such as avoiding extensive sun exposure, wearing UV-proof clothing and appropriate application of topical sunscreens.


Subject(s)
Carcinoma, Basal Cell , Melanoma , Skin Neoplasms , Carcinoma, Basal Cell/drug therapy , Humans , Melanoma/drug therapy , Skin , Skin Neoplasms/drug therapy , Sunscreening Agents/therapeutic use , Ultraviolet Rays/adverse effects
6.
Hautarzt ; 72(1): 2-5, 2021 Jan.
Article in German | MEDLINE | ID: mdl-33346860

ABSTRACT

Skin aging results from the interaction of genetic and nongenetic so-called exposomal, factors. Among the exposomal factors, chronic, life-long exposure to sunlight is of eminent importance for the development of skin aging characteristics. Importantly, photoaging of human skin is not only caused by ultraviolet (UV) B and A radiation, but is also the consequence of exposure to wavelengths beyond the UV spectrum. These include visible, i.e. blue light (400-440 nm) as well as the short part of infrared radiation, i.e. IRA (760-1200 nm). Here we summarize the scientific evidence supporting these conclusions and emphasize the resulting consequences for daily photoprotection of human skin. We also explain the clinical significance of the concept that is offered by the skin aging exposome, which e.g. takes into account the fact that sunlight interacts with other exposomal factors and that this interaction is important for photoaging of the skin.


Subject(s)
Skin Aging , Humans , Skin , Sunlight/adverse effects , Sunscreening Agents/therapeutic use , Ultraviolet Rays/adverse effects
7.
Br J Dermatol ; 178(2): 335-349, 2018 02.
Article in English | MEDLINE | ID: mdl-28791687

ABSTRACT

Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases that result from defects in immune system development and/or function. The clinical manifestations of PIDs are highly variable, but most disorders involve at least an increased susceptibility to infection. Furthermore, cutaneous manifestations are very common in PIDs. As an easily accessible organ, the skin can be crucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality. We provide a table that enables the reader to find the possible diseases and corresponding gene defects based on the skin manifestations of the suspected PIDs. To our knowledge, this is the first review that allows the reader to find relevant PIDs and the respective gene defects through solitary or combined skin signs.


Subject(s)
Immunologic Deficiency Syndromes/diagnosis , Skin Diseases/diagnosis , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Clinical Laboratory Techniques , Early Diagnosis , Humans , Immune System Diseases/diagnosis , Immune System Diseases/genetics , Immunologic Deficiency Syndromes/genetics , Skin Diseases/genetics
9.
Hautarzt ; 68(5): 359-363, 2017 May.
Article in German | MEDLINE | ID: mdl-28401271

ABSTRACT

Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. No cure is available for these patients except complete protection from all types of UV radiation.


Subject(s)
Antioxidants/administration & dosage , Radiation Protection/methods , Sunlight/adverse effects , Sunscreening Agents/administration & dosage , Xeroderma Pigmentosum/etiology , Xeroderma Pigmentosum/prevention & control , Antioxidants/chemistry , Dermatology/trends , Evidence-Based Medicine , Humans , Radiation-Protective Agents/administration & dosage , Radiation-Protective Agents/chemistry , Solar Energy , Sunscreening Agents/chemistry , Treatment Outcome
10.
J Eur Acad Dermatol Venereol ; 30(4): 677-82, 2016 Apr.
Article in English | MEDLINE | ID: mdl-25758344

ABSTRACT

BACKGROUND: Anhidrotic ectodermal dysplasia (AED) is an inherited syndrome, which originates mainly from genetic alteration of the ectodysplasin A (EDA) gene. It regularly affects the adnexa of the skin which results in a characteristic phenotype of the patients including hypo- or anhidrosis leading to severe disturbances in the regulation of body temperature. OBJECTIVES: To prevent the development of the symptoms in early childhood promising therapeutic approaches are currently under clinical investigation. In this context, timely diagnosis of this genetic syndrome is crucial. The purpose of our study was the investigation of modern non-invasive imaging methods such as optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) in the immediate diagnosis of AED. METHODS: We examined a 3-year-old boy with the suspicion for an AED syndrome and his family members with RCM and OCT to document presence and characteristic features of sweat glands in comparison to non-affected individuals. RESULTS: The patient and the affected brother showed significantly reduced sweat glands in the imaging compared to the controls. The genetic analysis revealed a mutation of the EDA gene for hemizygosity previously associated with AED and the mother was revealed as the conductor of the genetic alteration. CONCLUSIONS: With the help of non-invasive imaging, we were able to detect sweat gland dysplasia in the affected family members without performing a biopsy which led us to the diagnosis of an AED. The application of modern dermatological imaging techniques might serve as valuable supplementary tools in the immediate, non-invasive diagnosis of genetic syndromes especially in newborns when early therapeutic approaches are planned.


Subject(s)
Ectodermal Dysplasia/complications , Family , Microscopy, Confocal/methods , Sweat Gland Diseases/diagnosis , Tomography, Optical Coherence/methods , Adolescent , Adult , Child, Preschool , Ectodermal Dysplasia/genetics , Female , Humans , Male , Pilot Projects , Prospective Studies , Young Adult
12.
Hautarzt ; 66(4): 287-96; quiz 297-8, 2015 Apr.
Article in German | MEDLINE | ID: mdl-25822586

ABSTRACT

Health-related quality of life has not only been established as an important patient-reported outcome measure in patient care but has been defined as an evaluation criterion for therapies in the German Code of Social Law as well as in the guidelines of the American Food and Drug Administration and of the European Medicines Agency (EMA). Quality of life can be measured in a standardised manner. Validated questionnaires are available for recording specific problems of patients with, for example, skin diseases. Measuring quality of life has not yet been implemented into daily dermatological routine, although (1) studies have confirmed that the measurement of quality of life offers major benefits for the treatment of skin diseases, and (2) first experiences in implementing quality of life measurement into practice have been positive. The further implementation of systemically measuring quality of life requires advancements in automated measurement and the assumption of cost by social health insurances.


Subject(s)
Dermatology/standards , Practice Guidelines as Topic , Psychometrics/methods , Quality of Life/psychology , Skin Diseases/diagnosis , Skin Diseases/psychology , Germany , United States
13.
Br J Dermatol ; 171(4): 891-4, 2014 Oct.
Article in English | MEDLINE | ID: mdl-24725144

ABSTRACT

BACKGROUND: Primary cutaneous γ/δ T-cell lymphoma (PCGD-TCL) is aggressive and has a poor prognosis. In contrast, subcutaneous panniculitis-like T-cell lymphoma (SPTCL) of the α/ß T-cell receptor phenotype is known to follow an indolent course and have a more favourable prognosis. In the past, PCGD-TCL and SPTCL were often considered to be a manifestation of the same disease, and aggressive systemic polychemotherapy has commonly been the first-line therapy for both. Given the understanding that SPTCL is a separate and less aggressive entity, clinical data exclusively evaluating the efficacy of conservative treatment in SPTCL are needed. OBJECTIVES: To assess the overall clinical response to systemic corticosteroids in the treatment of SPTCL. METHODS: This was a retrospective cross-sectional study based on a patient data repository from two tertiary care university hospitals in Zürich (Switzerland) and Tübingen (Germany). The repository spanned 13 years. RESULTS: In four of the five patients (80%) with SPTCL, treatment with systemic corticosteroids induced a complete remission. CONCLUSIONS: Systemic corticosteroids may be an excellent first-line single-agent therapy for SPTCL.


Subject(s)
Antineoplastic Agents, Hormonal/therapeutic use , Lymphoma, T-Cell/drug therapy , Panniculitis/drug therapy , Prednisolone/therapeutic use , Skin Neoplasms/drug therapy , Adult , Aged , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Retrospective Studies , Treatment Outcome
14.
Br J Dermatol ; 169(3): 704-8, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23772997

ABSTRACT

BACKGROUND: Plaque psoriasis is an inflammatory disease affecting approximately 2% of the population. The clinical hallmarks of psoriasis are sharply demarcated, erythematous plaques with thick scales. Photochemotherapy (psoralen plus ultraviolet A, PUVA) is one of the most effective therapies of psoriasis. The photosensitizer 8-methoxypsoralen (8-MOP) can be applied either orally (system PUVA) or topically in a warm water bath (bath PUVA). OBJECTIVES: To compare bath PUVA and system PUVA in the treatment of plaque psoriasis. METHODS: This was a randomized, open, prospective, multicentre trial. We included 74 patients with moderate-to-severe plaque psoriasis during a 6-week treatment and a 4-week follow-up period. Of the patients enrolled in the study, 38 received bath PUVA and 36 system PUVA. RESULTS: Both treatment modalities significantly reduced the median Psoriasis Area and Severity Index (PASI) score in the intention-to-treat population. Within 6 weeks bath PUVA reduced the median PASI by 74% (16·4 to 4·2) while system PUVA did so by 62% (15·3 to 5·8). The difference between the two modalities was not significant with regard to treatment efficacy (P = 0·389). CONCLUSION: There is no difference between bath PUVA and system PUVA in the treatment of psoriasis.


Subject(s)
Baths , Methoxsalen/administration & dosage , PUVA Therapy/methods , Photosensitizing Agents/administration & dosage , Psoriasis/drug therapy , Administration, Cutaneous , Administration, Oral , Adult , Aged , Female , Humans , Male , Middle Aged , Prospective Studies , Treatment Outcome , Young Adult
15.
Hautarzt ; 64(5): 338-43, 2013 May.
Article in German | MEDLINE | ID: mdl-23616049

ABSTRACT

Phototherapy represents one of the essential options in the treatment of skin diseases by dermatologists. The beginnings of phototherapy were based on empirical observations and only later the underlying molecular and cellular mechanisms of the different modalities of phototherapy were unravelled by scientific research. Due to these findings, some phototherapeutic indications were subsequently altered. In this article, the known photobiological effects of ultraviolet radiation will be discussed and put in relation to the different forms of phototherapy as they are applied in the daily practice by dermatologists.


Subject(s)
Models, Biological , Photosensitizing Agents/therapeutic use , Phototherapy/methods , Skin Diseases/physiopathology , Skin Diseases/therapy , Skin Physiological Phenomena/drug effects , Skin Physiological Phenomena/radiation effects , Humans
16.
Am J Transplant ; 12(1): 218-25, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21943390

ABSTRACT

Azathioprine is associated with enhanced skin photosensitivity to ultraviolet A (UVA) and leads to incorporation of 6-thioguanine (6-TG) into DNA of dividing cells. Unlike canonical DNA, 6-TG DNA is damaged by UVA, which comprises more than 90% of the ultraviolet reaching earth. Skin photosensitivity to UVA and UVB was measured in 48 kidney transplant patients immunosuppressed either by azathioprine (n = 32) or mycophenolate (n = 16). In 23 patients, azathioprine was subsequently replaced by mycophenolate and skin photosensitivity, DNA 6-TG content in peripheral blood mononuclear cells, and susceptibility to UVA-induced DNA damage were monitored for up to 2 years. The mean minimal erythema dose to UVA on azathioprine was twofold lower than on mycophenolate. Three months after replacing azathioprine by mycophenolate mofetil, the minimal erythema dose to UVA had increased from 15 to 25 J/cm(2) (p < 0.001) accompanied by reduced DNA 6-TG content. P53 protein expression in irradiated skin indicated reduced susceptibility to UVA-induced DNA damage. 6-TG DNA in peripheral blood mononuclear cells remained measurable for over 2 years. Replacing azathioprine selectively reduced the skin photosensitivity to UVA, attenuated UVA-induced skin DNA damage, and is likely based on incorporated 6-TG in DNA.


Subject(s)
Azathioprine/administration & dosage , DNA Damage , Immunosuppressive Agents/administration & dosage , Kidney Transplantation , Photosensitizing Agents/administration & dosage , Skin/radiation effects , Ultraviolet Rays , Humans
17.
Br J Dermatol ; 176(4): 845-846, 2017 04.
Article in English | MEDLINE | ID: mdl-28418142
18.
Orthod Craniofac Res ; 15(2): 103-16, 2012 May.
Article in English | MEDLINE | ID: mdl-22515186

ABSTRACT

OBJECTIVE: This prospective cross-sectional study design was performed to define reference values for the facial surfaces of 3-6-year-old boys and girls using three-dimensional surface cephalometry. MATERIAL AND METHODS: A total of 2290 standardized three-dimensional facial images from 3 to 6-year-old preschool children were separated by gender and assigned to four age categories. All children were Caucasian and revealed no evidence of dentofacial abnormalities. On each image, 31 cephalometric landmarks were marked, resulting in 35 (19 frontal, six lateral, 10 paired) distances and eight angles. Differences between age groups and genders were calculated and significances detected. RESULTS: A base table with reference values was compiled, which indicated that boys showed higher values than age-matched girls and that measured distances increased with age. CONCLUSION: The mean values from this study could be compiled as a reference table for three-dimensional facial analysis in Caucasian children aged 3-6 years. Such a reference table could be used in comparative studies with other populations or children with craniofacial malformations.


Subject(s)
Cephalometry/statistics & numerical data , Face/anatomy & histology , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Male , Photogrammetry , Prospective Studies , Reference Values , Reproducibility of Results , Sex Factors , White People/statistics & numerical data
19.
Ann Dermatol Venereol ; 139 Suppl 4: S130-4, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23522627

ABSTRACT

The occurrence of abnormally pigmented skin lesions is a common phenomenon and often associated with the influence of ultraviolet radiation (UV) and other sources of DNA damage. Pigmentary lesions induced by UV radiation and other sources of DNA damage occur in healthy individuals, but human diseases with defective DNA repair represent important models which allow the investigation of possible underlying molecular mechanisms leading to hypo-and hyperpigmentations. There are several hereditary diseases which are known to go along with genetic defects of DNA repair mechanisms comprising Xeroderma pigmentosum (XP), Cockayne syndrome (CS), Trichothiodystrophy (TTD), Werner syndrome (WS), Bloom syndrome (BS), Fanconi anemia (FA) and Ataxia telangiectasia (AT). These diseases share clinical characteristics including poikilodermatic skin changes such as hypo-and hyperpigmentation. Since UV radiation is the most common source of DNA damage which can cause pigmentary lesions both in healthy individuals and in patients with genetic deficiency in DNA repair, in the present article, we focus on pigmentary lesions in patients with XP as an example of a disease associated with genetic defects in DNA repair.


Subject(s)
DNA Damage , DNA Repair , Pigmentation Disorders/genetics , Skin Diseases, Genetic/genetics , Ataxia Telangiectasia/genetics , Ataxia Telangiectasia/pathology , DNA/radiation effects , DNA Repair/genetics , Humans , Hyperpigmentation/etiology , Hyperpigmentation/genetics , Neoplasms, Radiation-Induced/etiology , Neoplasms, Radiation-Induced/genetics , Pigmentation Disorders/chemically induced , Pigmentation Disorders/etiology , Pigmentation Disorders/pathology , Skin/radiation effects , Skin Diseases, Genetic/pathology , Skin Neoplasms/etiology , Skin Neoplasms/genetics , Ultraviolet Rays/adverse effects , Xeroderma Pigmentosum/genetics , Xeroderma Pigmentosum/metabolism , Xeroderma Pigmentosum/pathology
20.
Ann Dermatol Venereol ; 139 Suppl 3: S78-82, 2012 Nov.
Article in French | MEDLINE | ID: mdl-23260522

ABSTRACT

The occurrence of abnormally pigmented skin lesions is a common phenomenon and often associated with the influence of ultraviolet radiation (UV) and other sources of DNA damage. Pigmentary lesions induced by UV radiation and other sources of DNA damage occur in healthy individuals, but human diseases with defective DNA repair represent important models which allow the investigation of possible underlying molecular mechanisms leading to hypo- and hyperpigmentations. There are several hereditary diseases which are known to go along with genetic defects of DNA repair mechanisms comprising Xeroderma pigmentosum (XP), Cockayne syndrome (CS), Trichothiodystrophy (TTD), Werner syndrome (WS), Bloom syndrome (BS), Fanconi anemia (FA) and Ataxia telangiectasia (AT). These diseases share clinical characteristics including poikilodermatic skin changes such as hypo-and hyperpigmentation. Since UV radiation is the most common source of DNA damage which can cause pigmentary lesions both in healthy individuals and in patients with genetic deficiency in DNA repair, in the present article, we focus on pigmentary lesions in patients with XP as an example of a disease associated with genetic defects in DNA repair.


Subject(s)
DNA Damage/physiology , DNA Repair-Deficiency Disorders/diagnosis , DNA Repair-Deficiency Disorders/genetics , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/genetics , Pigmentation Disorders/diagnosis , Pigmentation Disorders/genetics , Ultraviolet Rays/adverse effects , Xeroderma Pigmentosum/diagnosis , Xeroderma Pigmentosum/genetics , Adult , Carcinoma, Basal Cell/diagnosis , Carcinoma, Basal Cell/genetics , Carcinoma, Basal Cell/physiopathology , Carcinoma, Basal Cell/prevention & control , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/physiopathology , Carcinoma, Squamous Cell/prevention & control , Child , DNA Damage/genetics , DNA Repair-Deficiency Disorders/physiopathology , DNA Repair-Deficiency Disorders/prevention & control , Facial Neoplasms/diagnosis , Facial Neoplasms/genetics , Facial Neoplasms/physiopathology , Facial Neoplasms/prevention & control , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/genetics , Neoplasms, Multiple Primary/physiopathology , Neoplasms, Multiple Primary/prevention & control , Neoplasms, Radiation-Induced/diagnosis , Neoplasms, Radiation-Induced/genetics , Neoplasms, Radiation-Induced/physiopathology , Neoplasms, Radiation-Induced/prevention & control , Photosensitivity Disorders/physiopathology , Photosensitivity Disorders/prevention & control , Pigmentation Disorders/physiopathology , Pigmentation Disorders/prevention & control , Skin/physiopathology , Skin/radiation effects , Sunscreening Agents/administration & dosage , Syndrome , Xeroderma Pigmentosum/physiopathology
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