Photosensitivity disorders in children

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

doi:10.1016/j.jaad.2012.07.033

Cited by 17 publications

(19 citation statements)

References 52 publications

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“…It is the most common porphyria in childhood – prevalence ranges from 0.06 to 1.75 per 100,000 (Table ) . It usually presents in childhood, affects all races, and may have a slight male predominance …”

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

“…Diagnosis via blood involves chemically extracting protoporphyrin for concentration measurement in peripheral erythrocytes or by directly visualizing fluorocytes. There is a characteristic peak of plasma protoporphyrin fluorescence at 634 nm . Attempts to automate a diagnosis of EPP have used plasma fluorescence scanning, which measures protoporphyrin through its characteristic fluorescence, and has up to 83% sensitivity .…”

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

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Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in DNA analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part II. IntroductionThe porphyrias are a group of disorders characterized by defects in heme production, resulting in buildup of toxic heme precursors (Table 1). Cutaneous findings are common and include photosensitivity, painful burning, bullae, and scarring. Diagnosis requires laboratory measurement of heme precursors in plasma, urine, stool, and erythrocytes.Heme is made from glycine and succinyl-coenzyme A in eight steps (Fig. 1). Heme synthesis is ubiquitous throughout the body, but 85% occurs in bone marrow, becoming hemoglobin.1 Porphyrias are classified into two categories based on whether heme precursors build up in the liver (hepatic porphyrias) or bone marrow (erythropoietic porphyrias). Hepatic porphyrias are subdivided into acute and chronic subtypes, and tend to have secondary triggers (e.g., drugs, alcohol, hormone fluctuation, infection, and fasting). Acute hepatic porphyrias present with episodes (acute attacks) of abdominal or neurological symptoms caused by a genetic predisposition with a secondary metabolic trigger. Porphyria cutanea tarda (PCT), the only chronic hepatic porphyria, has a prolonged course of liver damage and photosensitivity. Erythropoietic porphyrias present in childhood with photosensitivity. While the main defect lies in the erythrocytes, the liver may also be involved. Materials and methodsA comprehensive literature search was initially performed using PubMed. Broad searches were performed using the terms "porphyria," "coproporphyria," and "protoporphyria" in the title, and "skin diseases, genetic" in the medical subject heading, but excluding for medical subject heading "acute intermittent." Articles

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Section: Erythropoietic Porphyriasmentioning

confidence: 99%

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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“…Se utilizaron medidas de soporte como evitar la exposición solar, así como la aplicación de protector solar de amplio espectro. Corticoesteroides tópicos de baja a mediana potencia se pueden utilizar en algunos pacientes con lesiones cutáneas, pero usualmente las lesiones desaparecen espontáneamente 1,10 . Sin embargo, se han reportado casos de atrofia e hiperpigmentación con el uso de los mismos.…”

Section: Discussionunclassified

Lupus eritematoso neonatal. Reporte de caso de lactante concebida por inseminación artificial y madre con artritis reumatoidea

Blanco

Miniño

Leguisamón

et al. 2019

cysa

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ResumenEl Lupus Eritematoso Neonatal es una enfermedad de origen autoinmune caracterizada por rash cutáneo transitorio, bloqueo cardíaco congénito permanente, función hepática anormal con o sin enfermedad biliar y compromiso hematológico asociado a la presencia de autoanticuerpos maternos contra la ribonucleoproteinas solubles (SSB/La, SSA/Ro y Anti-RNP). Se presenta el caso de una niña de cinco meses de edad con hallazgos clínicos e histopatológicos de Lupus eritematoso neonatal. Es una condición que no suele dejar secuelas, aunque se han reportado casos de atrofia cutánea e hiperpigmentación.Palabras clave: Lupus eritematoso neonatal; ojos de mapache; anti-Ro; anti-La; autoinmune. AbstractNeonatal Lupus Erythematosus is an autoimmune disease characterized by transitory cutaneous rash, congenital heart block, abnormal liver function test with or without cholestasis and hematologic features associated to anti-Ro and anti-La autoantibodies. A 5-month-old female is brought to the hospital with clinical and histopathology findings of Neonatal lupus. This medical condition does not leave long term physical damage, however there have been cases reported with cutaneous atrophy and hyperpigmentation.

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“…AP is an immunologically mediated photodermatosis primarily described in Amerindians and people of Central and South American descent with frequent familial occurrence and early-childhood onset. 1 In Caucasians AP occurs sporadically, typically starts in adolescence and to a lesser extent present conjunctivitis and cheilitis. 2-4 The disease has previously not been described in Scandinavian patients.…”

Section: Discussionmentioning

confidence: 99%

“…Thalidomide is generally recommended as the treatment of choice in recalcitrant cases, however the risk of peripheral neuropathy and teratogenesity limit its usage. 1 …”

Section: Discussionmentioning

confidence: 99%

Actinic prurigo in Scandinavian adolescent successfully treated with cyclosporine A

Sitek

2017

Dermatol Reports

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Actinic prurigo is a pruritic sun-induced dermatosis classified among the immunologically mediated photodermatoses. The disease is a well-known entity among Native Americans and in Central and South America, however rare in Caucasians with only a few reports from Australia, Britain and France. We report the first case of actinic prurigo in a Scandinavian patient, responding favorably to systemic treatment with cyclosporine A.

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Photosensitivity disorders in children

Cited by 17 publications

References 52 publications

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Lupus eritematoso neonatal. Reporte de caso de lactante concebida por inseminación artificial y madre con artritis reumatoidea

Actinic prurigo in Scandinavian adolescent successfully treated with cyclosporine A

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