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Ulerythema ophryogenesis

MedGen UID:
1813086
Concept ID:
C5700076
Disease or Syndrome
Synonyms: Ulerythema ophryogenes; Ulerythema ophryogenes with multiple congenital anomalies
SNOMED CT: Ulerythema ophryogenes (400126005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018086
Orphanet: ORPHA3406

Definition

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUlerythema ophryogenesis

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Kavamura MI, Leoni C, Neri G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):452-458. Epub 2022 Dec 21 doi: 10.1002/ajmg.c.32027. PMID: 36541891
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029

Recent clinical studies

Etiology

Kus MM, Mulayim MK, Kus C, Doganer A, Ozturk P, Temiz F, Nazik H
J Cosmet Dermatol 2023 Oct;22(10):2791-2798. Epub 2023 May 2 doi: 10.1111/jocd.15773. PMID: 37128833
Secco LP, Coubes C, Meyer P, Chenine L, Roubertie A, Malinge MC, Bessis D
Ann Dermatol Venereol 2022 Dec;149(4):241-244. Epub 2022 May 6 doi: 10.1016/j.annder.2022.02.007. PMID: 35527063
Tomasini C, Michelerio A, Quaglino P
J Cutan Pathol 2021 Sep;48(9):1124-1132. Epub 2021 Mar 23 doi: 10.1111/cup.14002. PMID: 33675561
Pediatr Dermatol 2019 Nov;36(6):937-938. doi: 10.1111/pde.14062. PMID: 31778553
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913

Diagnosis

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Drivenes JL, Vasilescu IC, Bygum A
Tidsskr Nor Laegeforen 2023 Mar 28;143(5) Epub 2023 Mar 7 doi: 10.4045/tidsskr.22.0513. PMID: 36987905
Jerjen R, Sinclair R, Meah N, Bhoyrul B
Dermatol Surg 2021 Jul 1;47(7):1024-1025. doi: 10.1097/DSS.0000000000002808. PMID: 34167135
Pediatr Dermatol 2019 Nov;36(6):e106-e107. doi: 10.1111/pde.14063. PMID: 31778571
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128

Therapy

Suástegui-Rodríguez I, Camacho-Rosas LH, Peralta-Pedrero ML, Cruz FJ, Morales-Sánchez MA
Skinmed 2022;20(4):258-271. Epub 2022 Aug 31 PMID: 35976015
Pediatr Dermatol 2019 Nov;36(6):937-938. doi: 10.1111/pde.14062. PMID: 31778553
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Morton CM, Bhate C, Janniger CK, Schwartz RA
Cutis 2014 Feb;93(2):83-7. PMID: 24605344
Anforth R, Fernandez-Peñas P, Long GV
Lancet Oncol 2013 Jan;14(1):e11-8. doi: 10.1016/S1470-2045(12)70413-8. PMID: 23276366

Prognosis

Jiang R, Xia Y, Wang B, Qu Z, Chen L, Hu F
J Med Case Rep 2024 Sep 17;18(1):431. doi: 10.1186/s13256-024-04765-z. PMID: 39285486Free PMC Article
Tomasini C, Michelerio A, Quaglino P
J Cutan Pathol 2021 Sep;48(9):1124-1132. Epub 2021 Mar 23 doi: 10.1111/cup.14002. PMID: 33675561
Pediatr Dermatol 2019 Nov;36(6):e106-e107. doi: 10.1111/pde.14063. PMID: 31778571
Pediatr Dermatol 2019 Nov;36(6):937-938. doi: 10.1111/pde.14062. PMID: 31778553
Bhoyrul B, Jones H, Blackford S
Clin Exp Dermatol 2016 Mar;41(2):159-61. Epub 2015 Jul 14 doi: 10.1111/ced.12700. PMID: 26179135

Clinical prediction guides

Wong PC, Wang MA, Ng TJ, Akbarialiabad H, Murrell DF
Clin Exp Dermatol 2024 Sep 18;49(10):1105-1117. doi: 10.1093/ced/llae066. PMID: 38447098
Suástegui-Rodríguez I, Camacho-Rosas LH, Peralta-Pedrero ML, Cruz FJ, Morales-Sánchez MA
Skinmed 2022;20(4):258-271. Epub 2022 Aug 31 PMID: 35976015
Okereke UR, Colozza S, Cohen DE
J Drugs Dermatol 2014 Nov;13(11):1410-1. PMID: 25607711
Braunstein I, Gangadhar TC, Elenitsas R, Chu EY
J Cutan Pathol 2014 Jun;41(6):539-43. Epub 2014 Mar 11 doi: 10.1111/cup.12318. PMID: 24517243
Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ
Am J Med Genet A 2014 Mar;164A(3):796-800. Epub 2013 Dec 20 doi: 10.1002/ajmg.a.36356. PMID: 24375972

Recent systematic reviews

Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Kechichian E, Jabbour S, El Hachem L, Tomb R, Helou J
Dermatol Surg 2020 Nov;46(11):1397-1402. doi: 10.1097/DSS.0000000000002441. PMID: 32804891

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