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Facial erythema

MedGen UID:
65986
Concept ID:
C0239488
Finding
Synonyms: Blushed cheeks; Blushing; Red face; Red in the face; Rosacea; Ruddy face
 
HPO: HP:0001041

Definition

Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacial erythema

Conditions with this feature

Bloom syndrome
MedGen UID:
2685
Concept ID:
C0005859
Disease or Syndrome
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites.
Vibratory urticaria
MedGen UID:
510413
Concept ID:
C0157743
Disease or Syndrome
Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum (Boyden et al., 2016).
Pituitary dependent hypercortisolism
MedGen UID:
66381
Concept ID:
C0221406
Disease or Syndrome
Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).
Orthostatic hypotensive disorder, Streeten type
MedGen UID:
327101
Concept ID:
C1840438
Disease or Syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia
MedGen UID:
347851
Concept ID:
C1859316
Disease or Syndrome
Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010). Also see PPKCA1 (104100), a less severe, autosomal dominant disorder.
Dermatitis, atopic
MedGen UID:
350353
Concept ID:
C1864155
Disease or Syndrome
Keratosis follicularis spinulosa decalvans, autosomal dominant
MedGen UID:
412573
Concept ID:
C2748527
Disease or Syndrome
Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).
Keratosis follicularis spinulosa decalvans, X-linked
MedGen UID:
854384
Concept ID:
C3887525
Congenital Abnormality
Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.
Epidermodysplasia verruciformis, susceptibility to, 4
MedGen UID:
1648396
Concept ID:
C4749042
Finding
Epidermodysplasia verruciformis-4 is an autosomal recessive immunologic disorder characterized by increased susceptibility to certain human papilloma viruses (HPV) that cause warts and skin lesions. Affected individuals present in childhood with disseminated flat warts and psoriatic-like lesions that do not respond to treatment. Immunologic workup shows defects in T-cell development and signaling (summary by Crequer et al., 2012). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
C1Q deficiency 2
MedGen UID:
1841058
Concept ID:
C5830422
Disease or Syndrome
C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007). For a discussion of genetic heterogeneity of C1q deficiency, see 613652.

Professional guidelines

PubMed

Ivanic MG, Oulee A, Norden A, Javadi SS, Gold MH, Wu JJ
J Drugs Dermatol 2023 Jun 1;22(6):566-575. doi: 10.36849/JDD.7181. PMID: 37276164
Narla S, Silverberg JI, Simpson EL
J Am Acad Dermatol 2022 Mar;86(3):628-636. Epub 2021 Jun 11 doi: 10.1016/j.jaad.2021.06.017. PMID: 34126094
Jo CE, Finstad A, Georgakopoulos JR, Piguet V, Yeung J, Drucker AM
J Am Acad Dermatol 2021 May;84(5):1339-1347. Epub 2021 Jan 8 doi: 10.1016/j.jaad.2021.01.012. PMID: 33428978

Recent clinical studies

Etiology

Hanna E, Xing L, Taylor JH, Bertucci V
Arch Dermatol Res 2022 Oct;314(8):729-738. Epub 2021 Sep 14 doi: 10.1007/s00403-021-02277-0. PMID: 34519860
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
İkizoğlu G
Clin Dermatol 2014 Nov-Dec;32(6):800-8. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.019. PMID: 25441473
Welsh O, Vera-Cabrera L
Clin Dermatol 2014 Nov-Dec;32(6):734-8. Epub 2014 Mar 2 doi: 10.1016/j.clindermatol.2014.02.011. PMID: 25441465
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article

Diagnosis

Ivanic MG, Oulee A, Norden A, Javadi SS, Gold MH, Wu JJ
J Drugs Dermatol 2023 Jun 1;22(6):566-575. doi: 10.36849/JDD.7181. PMID: 37276164
Shen M, Duan C, Xie C, Wang H, Li Z, Li B, Wang T
Front Immunol 2022;13:962393. Epub 2022 Jul 28 doi: 10.3389/fimmu.2022.962393. PMID: 35967341Free PMC Article
Jo CE, Finstad A, Georgakopoulos JR, Piguet V, Yeung J, Drucker AM
J Am Acad Dermatol 2021 May;84(5):1339-1347. Epub 2021 Jan 8 doi: 10.1016/j.jaad.2021.01.012. PMID: 33428978
Dessinioti C, Antoniou C
Clin Dermatol 2017 Mar-Apr;35(2):201-206. Epub 2016 Oct 27 doi: 10.1016/j.clindermatol.2016.10.015. PMID: 28274360
Hannah-Shmouni F, Stratakis CA, Koch CA
Rev Endocr Metab Disord 2016 Sep;17(3):373-380. doi: 10.1007/s11154-016-9394-8. PMID: 27873108Free PMC Article

Therapy

Ivanic MG, Oulee A, Norden A, Javadi SS, Gold MH, Wu JJ
J Drugs Dermatol 2023 Jun 1;22(6):566-575. doi: 10.36849/JDD.7181. PMID: 37276164
Hanna E, Xing L, Taylor JH, Bertucci V
Arch Dermatol Res 2022 Oct;314(8):729-738. Epub 2021 Sep 14 doi: 10.1007/s00403-021-02277-0. PMID: 34519860
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Jo CE, Finstad A, Georgakopoulos JR, Piguet V, Yeung J, Drucker AM
J Am Acad Dermatol 2021 May;84(5):1339-1347. Epub 2021 Jan 8 doi: 10.1016/j.jaad.2021.01.012. PMID: 33428978
Hartmann JT, Haap M, Kopp HG, Lipp HP
Curr Drug Metab 2009 Jun;10(5):470-81. doi: 10.2174/138920009788897975. PMID: 19689244

Prognosis

Beuttler MM, Harrington HD, Hooper DO
J Drugs Dermatol 2021 Sep 1;20(9):958-962. doi: 10.36849/jdd.6038. PMID: 34491018
Jo CE, Finstad A, Georgakopoulos JR, Piguet V, Yeung J, Drucker AM
J Am Acad Dermatol 2021 May;84(5):1339-1347. Epub 2021 Jan 8 doi: 10.1016/j.jaad.2021.01.012. PMID: 33428978
Balci MA, Donmez S, Saritas F, Bas V, Pamuk ON
Rheumatol Int 2017 Sep;37(9):1519-1525. Epub 2017 Apr 6 doi: 10.1007/s00296-017-3710-9. PMID: 28386737
İkizoğlu G
Clin Dermatol 2014 Nov-Dec;32(6):800-8. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.019. PMID: 25441473
Welsh O, Vera-Cabrera L
Clin Dermatol 2014 Nov-Dec;32(6):734-8. Epub 2014 Mar 2 doi: 10.1016/j.clindermatol.2014.02.011. PMID: 25441465

Clinical prediction guides

Qi X, Xiao Y, Zhang X, Zhu Z, Zhang H, Wei J, Zhao Z, Li J, Chen T
Food Funct 2024 Aug 27;15(17):8916-8934. doi: 10.1039/d4fo03083d. PMID: 39143863
Yuan X, Yin D
J Cosmet Dermatol 2023 Jan;22(1):103-110. Epub 2022 Oct 24 doi: 10.1111/jocd.15467. PMID: 36237138
Shen M, Duan C, Xie C, Wang H, Li Z, Li B, Wang T
Front Immunol 2022;13:962393. Epub 2022 Jul 28 doi: 10.3389/fimmu.2022.962393. PMID: 35967341Free PMC Article
Jo CE, Finstad A, Georgakopoulos JR, Piguet V, Yeung J, Drucker AM
J Am Acad Dermatol 2021 May;84(5):1339-1347. Epub 2021 Jan 8 doi: 10.1016/j.jaad.2021.01.012. PMID: 33428978
Hartmann JT, Haap M, Kopp HG, Lipp HP
Curr Drug Metab 2009 Jun;10(5):470-81. doi: 10.2174/138920009788897975. PMID: 19689244

Recent systematic reviews

Patel P, Wang JY, Mineroff J, Jagdeo J
Arch Dermatol Res 2023 Dec 12;316(1):37. doi: 10.1007/s00403-023-02754-8. PMID: 38085369
Yuan X, Yin D
J Cosmet Dermatol 2023 Jan;22(1):103-110. Epub 2022 Oct 24 doi: 10.1111/jocd.15467. PMID: 36237138
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Jo CE, Finstad A, Georgakopoulos JR, Piguet V, Yeung J, Drucker AM
J Am Acad Dermatol 2021 May;84(5):1339-1347. Epub 2021 Jan 8 doi: 10.1016/j.jaad.2021.01.012. PMID: 33428978
Saric S, Clark AK, Sivamani RK, Lio PA, Lev-Tov HA
J Altern Complement Med 2017 Dec;23(12):920-929. Epub 2017 Jun 26 doi: 10.1089/acm.2016.0398. PMID: 28650692

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