Genomes and Genes
Summary: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
- Fei J, Chen J. KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR). J Biol Chem. 2012;287:35118-26 pubmed publisher..Together, our data not only reveal that KIAA1530 is an important player in TCR but also lead to a better understanding of the molecular mechanism underlying UV(s)S syndrome. ..
- Berroeta L, Man I, Goudie D, Whatley S, Elder G, Ibbotson S. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. Br J Dermatol. 2007;157:1030-1 pubmed..Here we describe a patient with EPP, in whom the presenting clinical symptom, night-time itch, did not appear until middle age and who had an asymptomatic sister with the same FECH genotype. ..
- Yazdanfar A, Hashemi B. Kindler syndrome: report of three cases in a family and a brief review. Int J Dermatol. 2009;48:145-9 pubmed publisher..Also, patients should be questioned about any history of blister formation as well as family history. ..
- Jobard F, Bouadjar B, Caux F, Hadj Rabia S, Has C, Matsuda F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet. 2003;12:925-35 pubmed..Kindlerin might be involved in the bidirectional signaling between integrin molecules in the membrane and the cytoskeleton, and could be involved in cell adhesion processes via integrin signaling. ..
- Goodwin R, Kell W, Laidler P, Long C, Whatley S, Mckinley M, et al. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. Blood. 2006;107:60-2 pubmed
- Holme S, Anstey A, Finlay A, Elder G, Badminton M. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol. 2006;155:574-81 pubmed..Its diagnosis is often overlooked. None of TEP, age at onset nor time to onset of symptoms is a useful predictor of impaired QoL in individual patients. ..
- Krunic A, Garrod D, Madani S, Buchanan M, Clark R. Immunohistochemical staining for desmogleins 1 and 2 in keratinocytic neoplasms with squamous phenotype: actinic keratosis, keratoacanthoma and squamous cell carcinoma of the skin. Br J Cancer. 1998;77:1275-9 pubmed..This antibody may also have great potential for the detection of the effects of chemopreventive agents in skin cancer. ..
- White S, McLean W. Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci. 2005;38:169-75 pubmed..Kindler syndrome is therefore the first skin fragility syndrome due to disruption of the actin-extracellular matrix system. ..
- Ashton G. Kindler syndrome. Clin Exp Dermatol. 2004;29:116-21 pubmed
- Schneider Yin X, Gouya L, Meier Weinand A, Deybach J, Minder E. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr. 2000;159:719-25 pubmed..While covering the important clinical aspect of erythropoietic protoporphyria, this article emphasises the latest achievements in the molecular genetics of the disorder. ..
- Timonen K, Kariniemi A, Niemi K, Teppo A, Tenhunen R, Kauppinen R. Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study. J Am Acad Dermatol. 2000;43:489-97 pubmed..Amorphous deposits distinguish EPP from variegate porphyria and porphyria cutanea tarda; a histopathologic examination may be a helpful tool in differentiating porphyric and nonporphyric photosensitivity. ..
- Bharati A, Badminton M, Whatley S, O Brien D, Bell H. Late-onset erythropoietic protoporphyria in association with haematological malignancy. Clin Exp Dermatol. 2006;31:668-70 pubmed
- Alemzadeh R, Feehan T. Variable effects of beta-carotene therapy in a child with erythropoietic protoporphyria. Eur J Pediatr. 2004;163:547-9 pubmed..High-dose beta-carotene appears to provide photoprotection in erythropoietic protoporphyria, resulting in improved but highly variable tolerance to sunlight. ..
- Labrousse A, Salmon Ehr V, Eschard C, Kalis B, Leonard F, Bernard P. Recurrent painful hand crisis in a four-year-old girl, revealing an erythropoietic protoporphyria. Eur J Dermatol. 1998;8:515-6 pubmed..The present case illustrates the effectiveness of beta-carotene associated with canthaxanthin in erythropoietic protoporphyria. ..
- Poh Fitzpatrick M. Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. J Am Acad Dermatol. 1997;36:40-3 pubmed..057). These observations suggest that a beneficial physiologic effect of pregnancy in patients with EPP may be a lower circulating erythrocyte protoporphyrin burden that leads to reduced photosensitivity. ..
- Yazdan P, Haghighat Z, Guitart J, Gerami P. Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex. Am J Surg Pathol. 2013;37:81-8 pubmed publisher..We also postulate that the epithelioid pattern may represent a subclone of the conventional blue nevus component induced by chronic UV damage. ..
- Moyal D. The development of efficient sunscreens. Indian J Dermatol Venereol Leprol. 2012;78 Suppl 1:S31-4 pubmed publisher..Sunscreen filters must be carefully combined to achieve esthetically pleasing products offering photostable and well-balanced photoprotection. ..
- Tavana O, Benjamin C, Puebla Osorio N, Sang M, Ullrich S, Ananthaswamy H, et al. Absence of p53-dependent apoptosis leads to UV radiation hypersensitivity, enhanced immunosuppression and cellular senescence. Cell Cycle. 2010;9:3328-36 pubmed publisher..Our results also indicate that p53-dependent apoptosis may play an active role in balancing cellular growth. ..
- Millard T, Hawk J. Photodermatoses in the elderly. Clin Geriatr Med. 2001;17:691-714, vi pubmed..Endogenous (metabolic) and exogenous (drug and chemical) photodermatoses, as well as photo-exacerbated dermatoses, also are discussed...
- Beach R, Pratt M. Chronic actinic dermatitis: clinical cases, diagnostic workup, and therapeutic management. J Cutan Med Surg. 2009;13:121-8 pubmed..All had biopsies showing an eczematous pattern. CAD is persistent, with a classic presentation, and requires a specific diagnostic workup. Effective therapeutic options exist for patients with CAD. ..
- van Ewijk R, Marees C. [Juvenile spring eruption]. Ned Tijdschr Geneeskd. 2011;155:A2417 pubmed..After 3 weeks the skin eruptions disappeared leaving no scars. Both children had juvenile spring eruption. Itching can usually be treated locally with class 1 glucocorticoids. The condition disappears on its own. ..
- Gambillara E, Spertini F, Leimgruber A. [Allergic and toxic cutaneous reactions to plants]. Rev Med Suisse. 2010;6:824-9 pubmed..The role of UV (phytophotodermatosis), as well as the contact allergy to wood is also evoked in this paper. ..
- Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, et al. A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. Otol Neurotol. 2010;31:210-5 pubmed publisher..It would be helpful to search for KID syndrome in dealing with patients with deafness, skin lesions of unknown cause, and wound healing problems to choose the right method of surgical treatment and subsequent aftercare. ..
- Hafner C, Stoehr R, van Oers J, Zwarthoff E, Hofstaedter F, Landthaler M, et al. FGFR3 and PIK3CA mutations are involved in the molecular pathogenesis of solar lentigo. Br J Dermatol. 2009;160:546-51 pubmed publisher..The occurrence of these mutations in both SL and SK suggests a common genetic basis. Our findings furthermore substantiate previous speculations that UV exposure may be a causative factor for FGFR3 and PIK3CA mutations in human skin. ..
- Latreille J, Ezzedine K, Elfakir A, Ambroisine L, Gardinier S, Galan P, et al. MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women. Photochem Photobiol. 2009;85:1451-8 pubmed publisher..Our findings support the hypothesis that MC1R polymorphisms do not necessarily alter the skin color but should sensitize the skin to UV-induced DNA damage. ..
- GuÃ©len S, Blazejak M, Chamoreau L, Huguet A, Derenne S, Volatron F, et al. Photochemical studies on bis-sulfide and -sulfone tethered polyenic derivatives. Org Biomol Chem. 2017;15:4180-4190 pubmed publisher..Irradiation of bis-acrylic precursors in water with encapsulation by a host (cyclodextrin or cucurbituril) provided a stereoselective access to valuable cyclobutyl adducts. ..
- Ibbotson S, Dawe R, Dinkova Kostova A, Weidlich S, Farr P, Ferguson J, et al. Glutathione S-transferase genotype is associated with sensitivity to psoralen-ultraviolet A photochemotherapy. Br J Dermatol. 2012;166:380-8 pubmed publisher..The polymorphic human GSTs are associated with PUVA sensitivity. Further studies are required to examine the clinical relevance of these preliminary findings. ..
- Kyu Won C, Chae Young L, Yeong Kyu L, Young Hun K, Ki Ho K. A Korean experience with chronic actinic dermatitis during an 18-year period: meteorological and photoimmunological aspects. Photodermatol Photoimmunol Photomed. 2009;25:286-92 pubmed publisher..We believe that the majority of the CAD patients tested had photoallergy and contact allergy. The clinical severity seemed to correlate well with the total IgE level and CCR4 expression. ..
- Richards H, Ling T, Evangelou G, Brooke R, Fortune D, Rhodes L. Evidence of high levels of anxiety and depression in polymorphic light eruption and their association with clinical and demographic variables. Br J Dermatol. 2008;159:439-44 pubmed publisher..High levels of anxiety and depression occur in PLE. Clinicians should be alert to the potential need for psychological management, particularly in patients with facial involvement and a younger age of onset of PLE. ..
- Bolanca I, Bolanca Z, Kuna K, Vuković A, Tuckar N, Herman R, et al. Chloasma--the mask of pregnancy. Coll Antropol. 2008;32 Suppl 2:139-41 pubmed..The mainstay of treatment remains topical depigmenting agents. Hydroquinone (HQ) is most commonly used. ..
- Röhrs S, Geiser F, Conrad R. Citalopram-induced subacute cutaneous lupus erythematosus -- first case and review concerning photosensitivity in selective serotonin reuptake inhibitors. Gen Hosp Psychiatry. 2012;34:541-5 pubmed publisher..This report describes a case of subacute cutaneous lupus erythematosus (SCLE) in a patient treated with citalopram and discusses evidence linking selective serotonin reuptake inhibitors (SSRIs) to the induction of photosensitivity...
- Daldon P, Pascini M, Correa M. Case for diagnosis. Actinic prurigo. An Bras Dermatol. 2010;85:733-5 pubmed..Lesions improved considerably with the use of thalidomide 100mg/ day. ..
- Engin B, Songur A, Kutlubay Z, Serdaroglu S. Lymphocytic infiltrations of face. Clin Dermatol. 2014;32:101-8 pubmed publisher..The most important diseases with lymphocytic infiltration of the face are pseudolymphomas. This review discusses various types of cutaneous pseudolymphomas and other diseases with lymphocytic infiltration mainly involving the face. ..
- Winter E, Rothbarth P, Delfos N. Misleading presentation of acute Lyme neuroborreliosis. BMJ Case Rep. 2012;2012: pubmed publisher..Clinicians must be aware of the fact that this severe illness can present without any typical symptoms. ..
- Hu S, Chu J, Meehan S, Kamino H, Pomeranz M. Acquired brachial cutaneous dyschromatosis. Dermatol Online J. 2011;17:16 pubmed..Treatment of these lesions may prove to be a challenge, with an emphasis on rigorous sun protection and adjunctive measures with depigmentating agents, chemical peels, and lasers. ..
- Fang H, Gao Y, Wang H, Yin H, Li G, An T. Photo-induced oxidative damage to dissolved free amino acids by the photosensitizer polycyclic musk tonalide: Transformation kinetics and mechanisms. Water Res. 2017;115:339-346 pubmed publisher..This study may support the protection of human health, and suggests the possible need to further restrict polycyclic musks use. ..
- Bissonnette R. Update on sunscreens. Skin Therapy Lett. 2008;13:5-7 pubmed..This article will review some of the recent advances in photoprotection, including the development of sunscreen formulations offering higher and broader protection against solar radiation. ..
- Kim A, Chong B. Photosensitivity in cutaneous lupus erythematosus. Photodermatol Photoimmunol Photomed. 2013;29:4-11 pubmed publisher..Accurately discerning photosensitivity has diagnostic implications for SLE and provides motivation for greater patient adherence to photoprotective methods. ..
- Li X, Lee S, Yoon J. Supramolecular photosensitizers rejuvenate photodynamic therapy. Chem Soc Rev. 2018;47:1174-1188 pubmed publisher..Importantly, this discussion also provides a view of future advances that will likely be made in this area and their potential clinical applications. ..
- Yoshikawa T, Takahashi Y, Kawaguchi H, Utsunomiya S, Miura N, Izumi H, et al. A dermal phototoxicity study following intravenous infusion administration of ciprofloxacin hydrochloride in the novel microminipigs. Toxicol Pathol. 2013;41:109-13 pubmed publisher..Therefore, the authors suggest that the MMPig may be a useful experimental animal model for dermal phototoxicity studies. ..
- Petersen A, Philipsen P, Wulf H. An explorative study of non-invasive ultra-weak photon emission and the anti-oxidative influence of oral zinc sulphate in light-sensitive patients with erythropoietic protoporphyria. Skin Res Technol. 2012;18:405-12 pubmed publisher..During treatment, an inverse correlation was found between plasma zinc concentration and the initial burst. Measurements of UPE can be used for monitoring UVA-induced oxidative processes in vivo in the skin of EPP patients. ..
- McGowan J, Maize J, Cook J. Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. Am J Dermatopathol. 2009;31:786-91 pubmed publisher..In this case presentation, the authors report a patient with Bloom syndrome whose lupus-like facial rash revealed striking histopathologic similarities to cutaneous lupus erythematosus. ..
- Faghri S, Tamura D, Kraemer K, DiGiovanna J. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet. 2008;45:609-21 pubmed publisher..Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development. ..
- Pham T, Rochtchina E, Mitchell P, Smith W, Wang J. Sunlight-related factors and the 10-year incidence of age-related maculopathy. Ophthalmic Epidemiol. 2009;16:136-41 pubmed publisher..The protective association between skin sensitivity to sun damage and neovascular ARM could have be the result of confounding by sun-avoidance behavior among persons sensitive to sunburn. ..
- Delinasios G, Karbaschi M, Cooke M, Young A. Vitamin E inhibits the UVAI induction of "light" and "dark" cyclobutane pyrimidine dimers, and oxidatively generated DNA damage, in keratinocytes. Sci Rep. 2018;8:423 pubmed publisher..We propose the inclusion of similar agents into topical sunscreens and aftersun preparations which, for the latter in particular, represents a means to mitigate on-going DNA damage formation, even after sun exposure has ended. ..
- Soares B, Alves O, Ferreira M, Amorim J, Sousa G, Silveira L, et al. Cryptococcus gattii: in vitro susceptibility to photodynamic inactivation. Photochem Photobiol. 2011;87:357-64 pubmed publisher..These results indicate that PDI could be an alternative to C. gattii growth inhibition, even of isolates less susceptible to classical antifungal drugs, also pointing to mechanisms related to their variable susceptibility behavior. ..
- Guo R, Yang G, Feng Z, Zhu Y, Yang P, Song H, et al. Glutathione-induced amino-activatable micellar photosensitization platform for synergistic redox modulation and photodynamic therapy. Biomater Sci. 2018;6:1238-1249 pubmed publisher..These results demonstrate that the as-designed micelles provide a versatile photosensitization platform for on-demand PDT. ..
- Margadant C, Kreft M, Zambruno G, Sonnenberg A. Kindlin-1 regulates integrin dynamics and adhesion turnover. PLoS ONE. 2013;8:e65341 pubmed publisher..Thus, these data uncover a role for kindlin-1 in the regulation of integrin trafficking and adhesion turnover. ..
- Battie C, Verschoore M. Cutaneous solar ultraviolet exposure and clinical aspects of photodamage. Indian J Dermatol Venereol Leprol. 2012;78 Suppl 1:S9-S14 pubmed publisher..The long-term effects are photoaging and photocarcinogenesis. In particular, UVA appears to play a major role in the deterioration of dermal structure leading to the photoaged appearance of the skin. ..
- Masuoka E, Fukunaga A, Kishigami K, Jimbo H, Nishioka M, Uchimura Y, et al. Successful and long-lasting treatment of solar urticaria with ultraviolet A rush hardening therapy. Br J Dermatol. 2012;167:198-201 pubmed publisher..The mechanism of tolerance may involve continued blockade of photoallergen binding to IgE on mast cells, rather than depletion of mast cell mediators or histamine tachyphylaxis. ..