Photosensitivity disorders in children

Chantorn, Rattanavalai; Lim, Henry W.; Shwayder, Tor

doi:10.1016/j.jaad.2012.07.032

Cited by 26 publications

(7 citation statements)

References 73 publications

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“…The various hereditary photodermatoses can be divided into: ease, and porphyrias); and (4) Others (Kindler syndrome). 2 An algorithmic approach toward diagnosis of a child presenting with photosensitivity has been depicted in Figure 1. The diagnosis depends mainly on relevant history and clinical presentation.…”

Section: Discussionmentioning

confidence: 99%

Algorithmic approach toward diagnosis of patients with congenital photosensitivity disorders and review of literature

Patro,

Sathishkumar,

Panda

et al. 2023

Int J Dermatology

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The congenital photosensitivity disorders present as cutaneous signs and symptoms secondary to photosensitivity, extracutaneous manifestations, and a predisposition to malignancy. Diagnosis of these conditions mainly depend on clinical findings as the molecular analysis is not always feasible. A review of all the related articles collected after a thorough literature search using keywords, “congenital AND photosensitivity NOT acquired” and the individual diseases was done. A total of 264 articles were included in the review. An algorithm for diagnosis of the different congenital photosensitivity disorders based on the various clinical presentations has been proposed. An early suspicion and diagnosis of the different congenital photosensitivity disorders is the cornerstone behind prompt institution of prevention and treatment, and decreasing the associated morbidity.

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Section: Discussionmentioning

confidence: 99%

Algorithmic approach toward diagnosis of patients with congenital photosensitivity disorders and review of literature

Patro,

Sathishkumar,

Panda

et al. 2023

Int J Dermatology

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“…To further understand the role of DNA damage in photosensitivity, it might be helpful to take a look at DNA damage syndromes such as Xeroderma pigmentosum, Bloom syndrome or ataxia telangiectasia. These syndromes are caused by defects in proteins of the DNA repair apparatus, and patients can also exhibit enhanced photosensitivity ( 68 – 70 ). Furthermore, some of these DNA damage syndromes exhibit autoimmune phenotypes such as ataxia telangiectasia, where rheumatoid arthritis and the development of autoantibodies were described ( 71 – 73 ).…”

Section: Effects Of Ultraviolet Irradiation In the Development Of Lup...mentioning

confidence: 99%

Current concepts of photosensitivity in cutaneous lupus erythematosus

Klein

Kunz

2022

Front. Med.

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Cutaneous lupus erythematosus (CLE) represents a complex autoimmune disease with a broad phenotypic spectrum ranging from acute to chronic destructive cutaneous lesions. Patients with CLE exhibit high photosensitivity and ultraviolet (UV) irradiation can lead to systemic flares in systemic lupus erythematosus. However, the exact mechanisms how UV irradiation enhances cutaneous inflammation in lupus are not fully understood. Recently, new molecular mechanisms of UV-driven immune responses in CLE were identified, offering potential therapeutic approaches. Especially the induction of type I interferons, central cytokines in lupus pathogenesis which are released by various skin cells, have become the focus of current research. In this review, we describe current pathogenic concepts of photosensitivity in lupus erythematosus, including UV-driven activation of intracellular nucleic acid sensors, cellular cytokine production and immune cell activation. Furthermore, we discuss activated pathways contributing to enhanced apoptosis as well as intracellular translocation of autoantigens thereby promoting CLE upon UV light exposure.

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“…Skin symptoms include poikiloderma (telangiectasia, change of pigmentation), hair loss, palmoplantar keratoderma, and patients may have a higher risk of developing BCC, CSCC, and melanoma. Patients often show abnormalities of the bones and can develop osteosarcomas ( 53 , 54 ).…”

Section: Cutaneous Dna Damage Syndromes With Defects In Dna Double-strand Break Repairmentioning

confidence: 99%

Type I Interferon Induction in Cutaneous DNA Damage Syndromes

Klein

Günther

2021

Front. Immunol.

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Type I interferons (IFNs) as part of the innate immune system have an outstanding importance as antiviral defense cytokines that stimulate innate and adaptive immune responses. Upon sensing of pattern recognition particles (PRPs) such as nucleic acids, IFN secretion is activated and induces the expression of interferon stimulated genes (ISGs). Uncontrolled constitutive activation of the type I IFN system can lead to autoinflammation and autoimmunity, which is observed in autoimmune disorders such as systemic lupus erythematodes and in monogenic interferonopathies. They are caused by mutations in genes which are involved in sensing or metabolism of intracellular nucleic acids and DNA repair. Many authors described mechanisms of type I IFN secretion upon increased DNA damage, including the formation of micronuclei, cytosolic chromatin fragments and destabilization of DNA binding proteins. Hereditary cutaneous DNA damage syndromes, which are caused by mutations in proteins of the DNA repair, share laboratory and clinical features also seen in autoimmune disorders and interferonopathies; hence a potential role of DNA-damage-induced type I IFN secretion seems likely. Here, we aim to summarize possible mechanisms of IFN induction in cutaneous DNA damage syndromes with defects in the DNA double-strand repair and nucleotide excision repair. We review recent publications referring to Ataxia teleangiectasia, Bloom syndrome, Rothmund–Thomson syndrome, Werner syndrome, Huriez syndrome, and Xeroderma pigmentosum. Furthermore, we aim to discuss the role of type I IFN in cancer and these syndromes.

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Photosensitivity disorders in children

Cited by 26 publications

References 73 publications

Algorithmic approach toward diagnosis of patients with congenital photosensitivity disorders and review of literature

Algorithmic approach toward diagnosis of patients with congenital photosensitivity disorders and review of literature

Current concepts of photosensitivity in cutaneous lupus erythematosus

Type I Interferon Induction in Cutaneous DNA Damage Syndromes

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