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Severe photosensitivity

MedGen UID:
341399
•Concept ID:
C1849186
•
Finding
Synonym: Photosensitivity, severe
 
HPO: HP:0007537

Definition

A severe degree of photosensitivity of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Severe photosensitivity

Conditions with this feature

Smith-Lemli-Opitz syndrome
MedGen UID:
61231
•Concept ID:
C0175694
•
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.
See: Condition Record
Smith-Lemli-Opitz syndrome

Professional guidelines

PubMed

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
Desjardins MP, Naccache L, Hébert A, Auger I, Teira P, Pelland-Marcotte MC
Clin Pediatr (Phila) 2023 Jun;62(5):399-403. Epub 2022 Oct 11 doi: 10.1177/00099228221128661. PMID: 36217751Free PMC Article
Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children.
Tu JH, Sheu SL, Teng JM
JAMA Dermatol 2016 Nov 1;152(11):1258-1261. doi: 10.1001/jamadermatol.2016.2303. PMID: 27410690
Simeprevir and sofosbuvir with or without ribavirin to treat recurrent genotype 1 hepatitis C virus infection after orthotopic liver transplantation.
Crittenden NE, Buchanan LA, Pinkston CM, Cave B, Barve A, Marsano L, McClain CJ, Jones CM, Marvin MR, Davis EG, Kuns-Adkins CB, Gedaly R, Brock G, Shah MB, Rosenau J, Cave MC
Liver Transpl 2016 May;22(5):635-43. doi: 10.1002/lt.24422. PMID: 26915588

Recent clinical studies

Etiology

Pirfenidone in idiopathic pulmonary fibrosis: real-life experience in the referral centre of Siena.
Vietri L, Cameli P, Perruzza M, Cekorja B, Bergantini L, d'Alessandro M, Refini RM, Pieroni M, Fossi A, Bennett D, Spalletti M, Mazzei MA, Sestini P, Rottoli P, Bargagli E
Ther Adv Respir Dis 2020 Jan-Dec;14:1753466620906326. doi: 10.1177/1753466620906326. PMID: 32066332Free PMC Article
Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children.
Tu JH, Sheu SL, Teng JM
JAMA Dermatol 2016 Nov 1;152(11):1258-1261. doi: 10.1001/jamadermatol.2016.2303. PMID: 27410690
Cutaneous squamous cell carcinoma in two pediatric lung transplant patients on prolonged voriconazole treatment.
Wong JY, Kuzel P, Mullen J, Lien D, Mahmood M, Conrad C, Fiorillo L
Pediatr Transplant 2014 Sep;18(6):E200-7. Epub 2014 Jul 10 doi: 10.1111/petr.12320. PMID: 25039541
Vemurafenib and ipilimumab: new agents for metastatic melanoma.
Banaszynski M, Kolesar JM
Am J Health Syst Pharm 2013 Jul 15;70(14):1205-10. doi: 10.2146/ajhp120260. PMID: 23820456
Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.
Maeda T, Sato K, Tanaka T, Minami H, Taguchi H, Mimaki T, Yoshikawa K
Br J Dermatol 2000 Jul;143(1):174-9. doi: 10.1046/j.1365-2133.2000.03611.x. PMID: 10886156

Diagnosis

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
Desjardins MP, Naccache L, Hébert A, Auger I, Teira P, Pelland-Marcotte MC
Clin Pediatr (Phila) 2023 Jun;62(5):399-403. Epub 2022 Oct 11 doi: 10.1177/00099228221128661. PMID: 36217751Free PMC Article
Xeroderma pigmentosum: the role of phototesting.
Stone N, Reed J, Mahood J, Hardwick N, George S
Br J Dermatol 2000 Sep;143(3):595-7. doi: 10.1111/j.1365-2133.2000.03716.x. PMID: 10971335
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome.
Anstey AV, Ryan A, Rhodes LE, Charman CR, Arlett CF, Tyrrell RM, Taylor CR, Pearse AD
Br J Dermatol 1999 Sep;141(3):406-14. doi: 10.1046/j.1365-2133.1999.03032.x. PMID: 10583043
Preliminary evaluation of ciprofloxacin, a new 4-quinolone antibiotic, in the treatment of febrile neutropenic patients.
Smith GM, Leyland MJ, Farrell ID, Geddes AM
J Antimicrob Chemother 1986 Nov;18 Suppl D:165-74. doi: 10.1093/jac/18.supplement_d.165. PMID: 3468101
"Actinic reticuloid"; a chronic dermatosis associated with severe photosensitivity and the histological resemblance to lymphoma.
Ive FA, Magnus IA, Warin RP, Jones EW
Br J Dermatol 1969 Jul;81(7):469-85. doi: 10.1111/j.1365-2133.1969.tb16022.x. PMID: 4240213

Therapy

A severe photosensitivity dermatitis caused by crizotinib.
Oser MG, Jänne PA
J Thorac Oncol 2014 Jul;9(7):e51-e53. doi: 10.1097/JTO.0000000000000163. PMID: 24926554Free PMC Article
Severe photosensitivity reaction induced by topical diclofenac.
Akat PB
Indian J Pharmacol 2013 Jul-Aug;45(4):408-9. doi: 10.4103/0253-7613.114999. PMID: 24014923Free PMC Article
Severe photosensitivity reaction to vandetanib.
Chang CH, Chang JW, Hui CY, Yang CH
J Clin Oncol 2009 Sep 20;27(27):e114-5. Epub 2009 Jun 29 doi: 10.1200/JCO.2009.21.8479. PMID: 19564539
Severe photosensitivity causing multifocal squamous cell carcinomas secondary to prolonged voriconazole therapy.
McCarthy KL, Playford EG, Looke DF, Whitby M
Clin Infect Dis 2007 Mar 1;44(5):e55-6. Epub 2007 Jan 23 doi: 10.1086/511685. PMID: 17278050
Xeroderma pigmentosum: the role of phototesting.
Stone N, Reed J, Mahood J, Hardwick N, George S
Br J Dermatol 2000 Sep;143(3):595-7. doi: 10.1111/j.1365-2133.2000.03716.x. PMID: 10971335

Prognosis

Radiation-induced dermatitis after administration of mogamulizumab for adult T-cell leukaemia/lymphoma: a multi-institutional retrospective study.
Maemoto H, Ariga T, Kusada T, Heianna J, Manabe Y, Miyakawa A, Nakachi S, Morishima S, Iraha S, Ganaha F, Masuzaki H, Murayama S
Jpn J Clin Oncol 2019 Feb 1;49(2):153-159. doi: 10.1093/jjco/hyy172. PMID: 30452692
Voriconazole-induced retinoid-like photosensitivity in children.
Rubenstein M, Levy ML, Metry D
Pediatr Dermatol 2004 Nov-Dec;21(6):675-8. doi: 10.1111/j.0736-8046.2004.21614.x. PMID: 15575856
Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.
Negishi I, Kato G, Moriwaki S, Ishikawa O
Eur J Dermatol 2002 Nov-Dec;12(6):536-9. PMID: 12459522
Xeroderma pigmentosum: the role of phototesting.
Stone N, Reed J, Mahood J, Hardwick N, George S
Br J Dermatol 2000 Sep;143(3):595-7. doi: 10.1111/j.1365-2133.2000.03716.x. PMID: 10971335
Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.
Maeda T, Sato K, Tanaka T, Minami H, Taguchi H, Mimaki T, Yoshikawa K
Br J Dermatol 2000 Jul;143(1):174-9. doi: 10.1046/j.1365-2133.2000.03611.x. PMID: 10886156

Clinical prediction guides

Pirfenidone in idiopathic pulmonary fibrosis: real-life experience in the referral centre of Siena.
Vietri L, Cameli P, Perruzza M, Cekorja B, Bergantini L, d'Alessandro M, Refini RM, Pieroni M, Fossi A, Bennett D, Spalletti M, Mazzei MA, Sestini P, Rottoli P, Bargagli E
Ther Adv Respir Dis 2020 Jan-Dec;14:1753466620906326. doi: 10.1177/1753466620906326. PMID: 32066332Free PMC Article
Melanoma associated with long-term voriconazole therapy: a new manifestation of chronic photosensitivity.
Miller DD, Cowen EW, Nguyen JC, McCalmont TH, Fox LP
Arch Dermatol 2010 Mar;146(3):300-4. Epub 2010 Jan 18 doi: 10.1001/archdermatol.2009.362. PMID: 20083676Free PMC Article
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
Poblete-Gutiérrez P, Wolff C, Farias R, Frank J
Br J Dermatol 2006 Feb;154(2):368-71. doi: 10.1111/j.1365-2133.2005.06978.x. PMID: 16433813
Xeroderma pigmentosum: the role of phototesting.
Stone N, Reed J, Mahood J, Hardwick N, George S
Br J Dermatol 2000 Sep;143(3):595-7. doi: 10.1111/j.1365-2133.2000.03716.x. PMID: 10971335
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome.
Anstey AV, Ryan A, Rhodes LE, Charman CR, Arlett CF, Tyrrell RM, Taylor CR, Pearse AD
Br J Dermatol 1999 Sep;141(3):406-14. doi: 10.1046/j.1365-2133.1999.03032.x. PMID: 10583043

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