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Cutaneous photosensitivity-lethal colitis syndrome

MedGen UID:
347455
Concept ID:
C1857449
Disease or Syndrome
Synonyms: Cutaneous photosensitivity and colitis, lethal; Early cutaneous photosensitivity and severe colitis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009051
OMIM®: 219095
Orphanet: ORPHA2881

Definition

A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. [from ORDO]

Clinical features

From HPO
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Early cutaneous photosensitivity
MedGen UID:
870443
Concept ID:
C4024889
Finding
Photosensitivity of the skin occurring early in life.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCutaneous photosensitivity-lethal colitis syndrome
Follow this link to review classifications for Cutaneous photosensitivity-lethal colitis syndrome in Orphanet.

Professional guidelines

PubMed

Garg A, Malviya N, Strunk A, Wright S, Alavi A, Alhusayen R, Alikhan A, Daveluy SD, Delorme I, Goldfarb N, Gulliver W, Hamzavi I, Jaleel T, Kimball AB, Kirby JS, Kirchhof MG, Lester J, Lev-Tov H, Lowes MA, Micheletti R, Orenstein LA, Piguet V, Sayed C, Tan J, Naik HB
J Am Acad Dermatol 2022 May;86(5):1092-1101. Epub 2021 Jan 23 doi: 10.1016/j.jaad.2021.01.059. PMID: 33493574Free PMC Article
Ma C, Armstrong AW
J Dermatolog Treat 2014 Oct;25(5):401-8. Epub 2013 Jul 3 doi: 10.3109/09546634.2013.813897. PMID: 23763243
Chachoua A, Dieterich D, Krasinski K, Greene J, Laubenstein L, Wernz J, Buhles W, Koretz S
Ann Intern Med 1987 Aug;107(2):133-7. doi: 10.7326/0003-4819-107-2-133. PMID: 3037960

Recent clinical studies

Etiology

Garg A, Malviya N, Strunk A, Wright S, Alavi A, Alhusayen R, Alikhan A, Daveluy SD, Delorme I, Goldfarb N, Gulliver W, Hamzavi I, Jaleel T, Kimball AB, Kirby JS, Kirchhof MG, Lester J, Lev-Tov H, Lowes MA, Micheletti R, Orenstein LA, Piguet V, Sayed C, Tan J, Naik HB
J Am Acad Dermatol 2022 May;86(5):1092-1101. Epub 2021 Jan 23 doi: 10.1016/j.jaad.2021.01.059. PMID: 33493574Free PMC Article
Genovese G, Moltrasio C, Garcovich S, Marzano AV
G Ital Dermatol Venereol 2020 Oct;155(5):542-550. Epub 2020 Jul 2 doi: 10.23736/S0392-0488.20.06629-8. PMID: 32618443
Rigoni R, Fontana E, Dobbs K, Marrella V, Taverniti V, Maina V, Facoetti A, D'Amico G, Al-Herz W, Cruz-Munoz ME, Schuetz C, Gennery AR, Garabedian EK, Giliani S, Draper D, Dbaibo G, Geha RS, Meyts I, Tousseyn T, Neven B, Moshous D, Fischer A, Schulz A, Finocchi A, Kuhns DB, Fink DL, Lionakis MS, Swamydas M, Guglielmetti S, Alejo J, Myles IA, Pittaluga S, Notarangelo LD, Villa A, Cassani B
J Allergy Clin Immunol 2020 Nov;146(5):1165-1179.e11. Epub 2020 Apr 18 doi: 10.1016/j.jaci.2020.04.005. PMID: 32311393Free PMC Article
Eggermont AM, Chiarion-Sileni V, Grob JJ, Dummer R, Wolchok JD, Schmidt H, Hamid O, Robert C, Ascierto PA, Richards JM, Lebbé C, Ferraresi V, Smylie M, Weber JS, Maio M, Konto C, Hoos A, de Pril V, Gurunath RK, de Schaetzen G, Suciu S, Testori A
Lancet Oncol 2015 May;16(5):522-30. Epub 2015 Mar 31 doi: 10.1016/S1470-2045(15)70122-1. PMID: 25840693
Marzano AV, Menicanti C, Crosti C, Trevisan V
G Ital Dermatol Venereol 2013 Apr;148(2):185-96. PMID: 23588144

Diagnosis

Pietzsch L, Körholz J, Boschann F, Sergon M, Dorjbal B, Yee D, Gilly V, Kämmerer E, Paul D, Kastl C, Laass MW, Berner R, Jacobsen EM, Roesler J, Aust D, Lee-Kirsch MA, Snow AL, Schuetz C
Front Immunol 2022;13:878989. Epub 2022 May 16 doi: 10.3389/fimmu.2022.878989. PMID: 35651609Free PMC Article
Garg A, Malviya N, Strunk A, Wright S, Alavi A, Alhusayen R, Alikhan A, Daveluy SD, Delorme I, Goldfarb N, Gulliver W, Hamzavi I, Jaleel T, Kimball AB, Kirby JS, Kirchhof MG, Lester J, Lev-Tov H, Lowes MA, Micheletti R, Orenstein LA, Piguet V, Sayed C, Tan J, Naik HB
J Am Acad Dermatol 2022 May;86(5):1092-1101. Epub 2021 Jan 23 doi: 10.1016/j.jaad.2021.01.059. PMID: 33493574Free PMC Article
Genovese G, Moltrasio C, Garcovich S, Marzano AV
G Ital Dermatol Venereol 2020 Oct;155(5):542-550. Epub 2020 Jul 2 doi: 10.23736/S0392-0488.20.06629-8. PMID: 32618443
Greuter T, Navarini A, Vavricka SR
Clin Rev Allergy Immunol 2017 Dec;53(3):413-427. doi: 10.1007/s12016-017-8617-4. PMID: 28643285
Hegarty AM, Barrett AW, Scully C
Clin Exp Dermatol 2004 Jan;29(1):1-7. doi: 10.1111/j.1365-2230.2004.01438.x. PMID: 14723710

Therapy

Greuter T, Navarini A, Vavricka SR
Clin Rev Allergy Immunol 2017 Dec;53(3):413-427. doi: 10.1007/s12016-017-8617-4. PMID: 28643285
Abdel-Wahab N, Shah M, Suarez-Almazor ME
PLoS One 2016;11(7):e0160221. Epub 2016 Jul 29 doi: 10.1371/journal.pone.0160221. PMID: 27472273Free PMC Article
Eggermont AM, Chiarion-Sileni V, Grob JJ, Dummer R, Wolchok JD, Schmidt H, Hamid O, Robert C, Ascierto PA, Richards JM, Lebbé C, Ferraresi V, Smylie M, Weber JS, Maio M, Konto C, Hoos A, de Pril V, Gurunath RK, de Schaetzen G, Suciu S, Testori A
Lancet Oncol 2015 May;16(5):522-30. Epub 2015 Mar 31 doi: 10.1016/S1470-2045(15)70122-1. PMID: 25840693
Marzano AV, Menicanti C, Crosti C, Trevisan V
G Ital Dermatol Venereol 2013 Apr;148(2):185-96. PMID: 23588144
Mocci G, Marzo M, Papa A, Armuzzi A, Guidi L
J Crohns Colitis 2013 Nov;7(10):769-79. Epub 2013 Mar 1 doi: 10.1016/j.crohns.2013.01.009. PMID: 23453887

Prognosis

Sakakida T, Ishikawa T, Chihara Y, Harita S, Uchino J, Tabuchi Y, Komori S, Asai J, Narukawa T, Arai A, Tsunezuka H, Kosuga T, Konishi H, Moriguchi M, Yasuda H, Hongo F, Inoue M, Hirano S, Ukimura O, Itoh Y, Taguchi T, Takayama K
Clin Transl Oncol 2020 Jun;22(6):919-927. Epub 2019 Oct 1 doi: 10.1007/s12094-019-02214-8. PMID: 31576495
Greuter T, Navarini A, Vavricka SR
Clin Rev Allergy Immunol 2017 Dec;53(3):413-427. doi: 10.1007/s12016-017-8617-4. PMID: 28643285
Corsello SM, Barnabei A, Marchetti P, De Vecchis L, Salvatori R, Torino F
J Clin Endocrinol Metab 2013 Apr;98(4):1361-75. Epub 2013 Mar 7 doi: 10.1210/jc.2012-4075. PMID: 23471977
Actis GC, Rosina F, Mackay IR
Expert Rev Gastroenterol Hepatol 2011 Jun;5(3):401-10. doi: 10.1586/egh.11.23. PMID: 21651357
Golden MP, Hammer SM, Wanke CA, Albrecht MA
Medicine (Baltimore) 1994 Sep;73(5):246-55. PMID: 7934809

Clinical prediction guides

Giraudo F, Miraglia E, Garbi ML, Yantorno M, Maradeo MR, Correa GJ, Tufare F
Rev Esp Enferm Dig 2021 Oct;113(10):691-697. doi: 10.17235/reed.2020.7431/2020. PMID: 33267595
Sakakida T, Ishikawa T, Chihara Y, Harita S, Uchino J, Tabuchi Y, Komori S, Asai J, Narukawa T, Arai A, Tsunezuka H, Kosuga T, Konishi H, Moriguchi M, Yasuda H, Hongo F, Inoue M, Hirano S, Ukimura O, Itoh Y, Taguchi T, Takayama K
Clin Transl Oncol 2020 Jun;22(6):919-927. Epub 2019 Oct 1 doi: 10.1007/s12094-019-02214-8. PMID: 31576495
Eggermont AM, Chiarion-Sileni V, Grob JJ, Dummer R, Wolchok JD, Schmidt H, Hamid O, Robert C, Ascierto PA, Richards JM, Lebbé C, Ferraresi V, Smylie M, Weber JS, Maio M, Konto C, Hoos A, de Pril V, Gurunath RK, de Schaetzen G, Suciu S, Testori A
Lancet Oncol 2015 May;16(5):522-30. Epub 2015 Mar 31 doi: 10.1016/S1470-2045(15)70122-1. PMID: 25840693
Corsello SM, Barnabei A, Marchetti P, De Vecchis L, Salvatori R, Torino F
J Clin Endocrinol Metab 2013 Apr;98(4):1361-75. Epub 2013 Mar 7 doi: 10.1210/jc.2012-4075. PMID: 23471977
Hegarty AM, Barrett AW, Scully C
Clin Exp Dermatol 2004 Jan;29(1):1-7. doi: 10.1111/j.1365-2230.2004.01438.x. PMID: 14723710

Recent systematic reviews

Diaconescu S, Strat S, Balan GG, Anton C, Stefanescu G, Ioniuc I, Stanescu AMA
Medicina (Kaunas) 2020 Aug 23;56(9) doi: 10.3390/medicina56090425. PMID: 32842528Free PMC Article
Abdel-Wahab N, Shah M, Suarez-Almazor ME
PLoS One 2016;11(7):e0160221. Epub 2016 Jul 29 doi: 10.1371/journal.pone.0160221. PMID: 27472273Free PMC Article
Ma C, Armstrong AW
J Dermatolog Treat 2014 Oct;25(5):401-8. Epub 2013 Jul 3 doi: 10.3109/09546634.2013.813897. PMID: 23763243

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