Minutes Of Sun Exposure Research Articles

REFERRAL FOR SUN ALLERGY – A CASE OF ERYTHROPOIETIC PROTOPORPHYRIA

<h3>Introduction</h3> Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by painful, non-blistering photosensitivity usually noted in early childhood and occurring acutely after sunlight exposure. Cutaneous lesions develop within minutes of sun exposure with diffuse edema of the skin in sun-exposed areas, resembling angioedema. EPP is now recognized as the most common porphyria in children and the third most common in adults. In the review of over 100 cases in the United States, the average delay diagnosis of EPP was 13 years. <h3>Case Description</h3> A 29-year-old female with a PMH of polyglandular autoimmune disease presented to the Allergy clinic as a referral for "Sun Allergy". The patient reported a near lifelong history of a photosensitive rash. The rash typically begins 10-20 minutes after sun exposure, sparing covered areas. The rash is described as burning/stinging in nature, a 10/10 on the pain scale. She additionally reported intermittent, small bullae in affected areas. She denied pruritus and urticaria. Patient denied recent NSAID and antibiotic use. She denied the use of topicals, including sunscreen. Patient has one full sibling with a similar clinical course. Patient denied history of substance use disorder. Porphyria became the leading differential diagnosis. Serum porphyrins with reflex porphyrins were obtained and indicated elevated total serum porphyrins with notable reflex indicating elevated protoporphyrins. The patient was diagnosed with Erythropoietic Porphyria and referred to Dermatology for further management. <h3>Discussion</h3> This case highlights the importance of including porphyrias in the differential diagnosis of photosensitive rashes, which may be referred to Allergy and Immunology clinics for evaluation.

Pathogenesis of solar urticaria: Classic perspectives and emerging concepts.

Solar urticaria is a rare, immunologically mediated photodermatosis in which activation of cutaneous mast cells is triggered by specific wavelengths of solar electromagnetic radiation. This manifests clinically as the rapid development of cutaneous itch, erythema and wheal formation after several minutes of sun exposure. Disease mechanisms in solar urticaria remain incompletely elucidated and there have been few recent investigations of its pathobiology. Historic passive transfer experiments performed during the twentieth century provide support for a 'photoallergy' model of disease pathogenesis, wherein molecular alteration of a putative chromophore by solar electromagnetic radiation produces mast cell activation via an IgE-dependent mechanism. However, this model does not account for several observations made during passive transfer experiments nor does it explain a range of subsequent clinical and photobiological observations made in solar urticaria patients. Furthermore, increased understanding of the molecular dynamics underpinning cutaneous mast cell responses highlights the need to reformulate our understanding of solar urticaria pathogenesis in the context of this contemporary scientific landscape. In this review, we discuss the current understanding of solar urticaria pathogenesis and, by incorporating recent scientific and clinical observations, develop new hypotheses to drive future investigation into this intriguing disorder.

0782 Duration Of Sun Exposure In Medical Students Impactschronotype

Abstract Introduction Timing of the human sleep-wake cycle is determined by social constraints, biological processes (sleep homeostasis and circadian rhythmicity) and environmental factors, particularly natural and electrical light exposure. However the effect of environmental factors, especially duration of sun exposure, on circadian rhythmicity remains unknown. We aimed to study the relationship between duration of sun exposure and chronotype among medical students. Methods Eighty-six GW medical students (62 F [71%], 24 M [29%]; ages 21-33 y [mean 24.4 y]) completed the Munich Chronotype Questionnaire (MCTQ). Mid points, the middle of the participants reported bedtime and wake time on workdays, were used to determine chronotype. Two independent groups based on the mean split (mean = 45) of the distribution of minutes of sun exposure were created: 45 minutes or more (n=31) vs less than 45 minutes (n = 55) of sun exposure. Independent samples t-test was performed to compare the measured midpoint with the following pairs of groups of reported work day sunlight exposure (in minutes): less than 45 min (n = 55) versus 45 min or more (n = 31). Results In the total sample (n = 86), no significant association between duration of sun exposure and midpoints was found using Pearson correlation. However, medical students with reported sun exposure of greater than or equal to 45 minutes a day had a significantly earlier chronotype compared to students reporting a sun exposure of less than 45 minutes a day [mid point 2.196 (SD 0.085) versus a mid point 3.386 (SD 1.084); t(69) = 2.021; p = .047]. Conclusion We found that, in GW medical students, greater amounts of sun exposure during the day was advancing the circadian rhythm. This may have implications on sleep duration and quality. Support NA

Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden

Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden

Novel dermatological manifestations of Mowat–Wilson syndrome including photosensitivity and dyspigmentation

The authors update on a previously reported patient with Mowat–Wilson syndrome (MWS) with unusual dermatological features including photosensitivity and skin dyspigmentation.1 An 18-month-old Afro-Caribbean boy with Hirschsprung9s disease, hypospadias, delayed visual maturation, microcephaly, developmental delay, seizures and dysmorphic facial features was referred to the dermatology department. Since birth he displayed persistent skin dyspigmentation with patchy macular hypo- and hyperpigmentation involving the face and neck, upper limbs, trunk, perineum and right ankle. There was no history of preceding inflammation or eczema. Following the original report, his parents have described photosensitivity since the age of 2 years, with sunburn-like erythema occurring within minutes of sun exposure despite application of high-factor sunblock. Investigations including lupus serology and porphyria screen were normal. The patient is currently awaiting formal phototesting. Genetic analysis previously identified a heterozygous truncating mutation in exon 8 of the ZEB2 (formerly ZFHXIB; Zinc finger homeobox 1B) gene, confirming MWS. MWS was first described in 1998, comprising characteristic facial dysmorphism, profound learning difficulties, epilepsy, Hirschprung9s disease and other congenital abnormalities, mapped to a locus at chromosome 2q21–q23.2 In 2001 the causative gene, ZEB2 was identified.3 Subsequently, over 100 pathogenetic heterozygous mutations or deletions are described.4 The distinctive evolving facial phenotype has been recently reviewed.5 ZEB2 encodes Smad interacting protein (SIP1), a ubiquitous transcription factor with an important role in embryological development including the neural crest. “Raindrop” pigmentation has been previously reported in a 9-year-old patient with MWS.6 This indicates that MWS should be added to the spectrum of neurocutaneous disorders comprising dyspigmentation and Hirschprung9s. We can speculate that dyspigmentation results from ZEB2 haploinsufficiency disrupting neural crest melanocyte development or migration. Our case is the first record of photosensitivity in MWS, raising the possibility of an additional role of ZEB2 in regulating the cutaneous response to ultraviolet radiation.

Vitamin D deficiency in patients with erythropoietic protoporphyria

The main symptom of patients with erythropoietic protoporphyria (EPP) is painful photosensitivity, starting within minutes of sun exposure and leading to sun-avoidance. As 80-100% of vitamin D is synthesized under the influence of sunlight, we investigated whether the avoidance of sunlight exposure in the Dutch EPP patient population causes vitamin D deficiency. Furthermore, we studied the relation between vitamin D levels, total erythrocyte protoporphyrin and quality of life. In a cross-sectional study of 48 Dutch EPP patients (mean age 41.4 years; range 16-77; 23 male, 25 female), we assessed serum 25-hydroxyvitamin D (25(OH)D) levels between June and November 2007, as well as total erythrocyte protoporphyrin (TEP) levels and Dermatology Life Quality Index (DLQI) scores. Mean serum 25(OH)D was 66 nmol/L (range 18-140, quartiles 36, 87). Twenty-two patients (46%; 15 male, 7 female) were vitamin D deficient. There was a significant difference (p = 0.029) in mean serum 25(OH)D between female (mean 75 nmol/L, range 18-140) and male patients (mean 55 nmol/L, range 18-115). The level of serum 25(OH)D showed a negative correlation with total erythrocyte protoporphyrin (TEP) (Pearson rank correlation (r(p)) = -0.337; p = 0.034). Serum 25(OH)D was inversely associated with scores of the Dermatology Life Quality Index (DLQI) (Spearman's rho correlation (r(s)) = -0.486; p = 0.001). The prevalence of vitamin D deficiency is high in the Dutch EPP population, especially in male patients, and correlates with the severity of EPP. Screening for and treatment of vitamin D deficiency should therefore be implemented in the care of these patients.

Erythropoetic protoporphyria presenting as “solar urticaria”

Rationale We describe a case of a 6-year old male initially diagnosed with solar urticaria but found to have a genetically based disorder of heme synthesis. Methods The patient presented with a 3-year history of a photosensative dermatosis which occurred during each summer season. He routinely developed pruritic, erythematous, and indurated skin eruptions to the face and arms within minutes of sun exposure. The lesions were not responsive to anti-histamine therapy and would remit within 48 hours. Past medical history was only significant for allergic rhinitis. Family history was significant for a similar rash to sun exposed areas in the mother and allergic rhinitis in the father. Results On exam there was evidence of dermal xerosis, hyperpigmentation and cicatrix formation over the face and hands. No significant lymphadenopathy or hepato-splenomegaly. Laboratory evaluation revealed a mild normochromic normocytic anemia (Hgb=11.2 g/dL), normal ESR and urinalysis, elevated total bilirubin (1.7 mg/dL), and a highly elevated erythrocyte protoporphyrin (>350 ug/dL). An autoimmune screen and 24- hour urine for porphyrin, porphobilinogen and delta-aminolevulinic acid were all negative. Conclusion Erythropoetic Protoporphyria was diagnosed in view of the clinical history and strong laboratory evidence. He had an excellent clinical response to treatment with oral beta-carotene, daily sunscreen, and topical zinc oxide. In summary, this is a young atopic male with porphyria who was originally diagnosed as having sun induced urticaria. As solar urticaria is a rare disorder, especially in children, suspected cases should be carefully assessed to rule out a rheumatologic or metabolic cause for their condition.

Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome.

Photosensitivity has recently been reported as a feature of the Smith-Lemli-Opitz syndrome (SLO). The aim of this study was to establish the photobiological features of this disorder and to examine the hypothesis that the photosensitivity is caused by the high levels of 7-dehydrocholesterol found in SLO. All known cases of SLO in the U.K. were reviewed and clinical details of photosensitivity were recorded in detail. The action spectrum of the photosensitive eruption was defined by monochromator light testing. Thirteen of the 23 subjects (57%) had severe photosensitivity, and in 10 there was no photosensitivity. No correlation was identified between levels of 7-dehydrocholesterol and severity of photosensitivity, suggesting that the photosensitivity in SLO is not caused by a direct phototoxic effect mediated by 7-dehydrocholesterol. A novel pattern of photosensitivity was observed, with onset of a sunburn-like erythema on sun-exposed skin within minutes of sun exposure, which persisted in most cases for up to 24-48 h before fading. Monochromator light testing in three subjects showed an ultraviolet (UV) A-mediated photosensitivity eruption with greatest photosensitivity at 350 nm. Photosensitivity is a common and prominent feature of SLO and appears to be UVA-mediated. Elucidation of its biochemical basis may provide insight into normal cutaneous protective mechanisms against UVA-induced photodamage, and also sun sensitivity in general.

Diagnosing Solar Urticaria

Solar urticaria is an uncommon idiopathic photodermatosis typified by lesions that appear within 30 minutes of sun exposure and almost always clear within 24 hours of sun avoidance. Pruritus and burning are the most common symptoms. The history is the most …

Solar Urticaria in a 6-Year-Old Child

HISTORY OF PRESENT ILLNESS This child was referred to the Pediatric Allergy and Immunology clinic by her pediatrician for evaluation of repeated episodes of “solar urticaria” which had been recurring over the past 3 years. These episodes of pruritus, swelling, and burning of the face, arms and legs would usually begin in the late spring when the child started to play outside. Every episode had developed within minutes of sun exposure and symptoms were never present in sun protected sites of her body. No symptoms occurred if the weather was overcast or in the winter. She denied any trouble breathing or swallowing during these episodes. There was no fever, fatigue, blistering of the skin, or joint pain. The episodes of urticaria had not been associated with use of any medications including nonsteroidal anti-inflammatory medications or antibiotics. Over the past 3 years, she had seen multiple physicians regarding this problem including allergists and dermatologists. Previous allergy skin testing was negative. Previous trials of diphenhydramine, as well as topical and oral corticosteroids did not provide relief. A variety of sunblocks had been used repeatedly without any improvement in the symptoms. The past medical history was significant for treatment with intravenous gammaglobulin when she was 12 months old for “septicemia.” There was a family history of atopy but no relatives with a specific history of photosensitivity or urticaria.