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Nevus flammeus of the forehead

MedGen UID:
376454
Concept ID:
C1848850
Finding
Synonym: Forehead nevus flammeus
 
HPO: HP:0007413

Definition

Naevus flammeus localized in the skin of the forehead. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNevus flammeus of the forehead

Conditions with this feature

Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MedGen UID:
897292
Concept ID:
C4225323
Disease or Syndrome
Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).
Shashi-Pena syndrome
MedGen UID:
934639
Concept ID:
C4310672
Disease or Syndrome
Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
MedGen UID:
1385307
Concept ID:
C4479246
Disease or Syndrome
CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures.
Al Kaissi syndrome
MedGen UID:
1611968
Concept ID:
C4540156
Disease or Syndrome
Al Kaissi syndrome (ALKAS) is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).
Regressive spondylometaphyseal dysplasia
MedGen UID:
1648288
Concept ID:
C4747922
Disease or Syndrome
Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014).
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
MedGen UID:
1824024
Concept ID:
C5774251
Disease or Syndrome
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022).

Professional guidelines

PubMed

Ramirez EL, Jülich K
Semin Pediatr Neurol 2024 Oct;51:101151. Epub 2024 Sep 7 doi: 10.1016/j.spen.2024.101151. PMID: 39389653
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Li D, Chen B, Zhang H, Yuan Y, Fan W, Ying Z
Lasers Med Sci 2020 Oct;35(8):1811-1819. Epub 2020 Apr 10 doi: 10.1007/s10103-020-03013-2. PMID: 32277405

Recent clinical studies

Etiology

Ramirez EL, Jülich K
Semin Pediatr Neurol 2024 Oct;51:101151. Epub 2024 Sep 7 doi: 10.1016/j.spen.2024.101151. PMID: 39389653
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Boos MD, Bozarth XL, Sidbury R, Cooper AB, Perez F, Chon C, Paras G, Amlie-Lefond C
J Am Acad Dermatol 2020 Oct;83(4):1110-1117. Epub 2020 May 12 doi: 10.1016/j.jaad.2020.05.017. PMID: 32413446
Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC
Pediatr Dermatol 2018 Jan;35(1):30-42. Epub 2017 Oct 16 doi: 10.1111/pde.13304. PMID: 29034507
Juern AM, Glick ZR, Drolet BA, Frieden IJ
J Am Acad Dermatol 2010 Nov;63(5):805-14. Epub 2010 Aug 21 doi: 10.1016/j.jaad.2009.08.066. PMID: 20728246

Diagnosis

Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Ivars M, López-Gutiérrez JC, Martinez-Glez V, Redondo P
J Dtsch Dermatol Ges 2020 Dec;18(12):1511-1514. doi: 10.1111/ddg.14372. PMID: 33373153
Boos MD, Bozarth XL, Sidbury R, Cooper AB, Perez F, Chon C, Paras G, Amlie-Lefond C
J Am Acad Dermatol 2020 Oct;83(4):1110-1117. Epub 2020 May 12 doi: 10.1016/j.jaad.2020.05.017. PMID: 32413446
Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC
Pediatr Dermatol 2018 Jan;35(1):30-42. Epub 2017 Oct 16 doi: 10.1111/pde.13304. PMID: 29034507
Juern AM, Glick ZR, Drolet BA, Frieden IJ
J Am Acad Dermatol 2010 Nov;63(5):805-14. Epub 2010 Aug 21 doi: 10.1016/j.jaad.2009.08.066. PMID: 20728246

Therapy

Zerbinati N, Protasoni M, D'Este E, Mocchi R, Coricciati L, Rauso R, Sbano P, Greco M, Rodighiero E, Satolli F
Dermatol Ther 2021 Jan;34(1):e14573. Epub 2020 Dec 7 doi: 10.1111/dth.14573. PMID: 33222349
Li D, Chen B, Zhang H, Yuan Y, Fan W, Ying Z
Lasers Med Sci 2020 Oct;35(8):1811-1819. Epub 2020 Apr 10 doi: 10.1007/s10103-020-03013-2. PMID: 32277405
Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC
Pediatr Dermatol 2018 Jan;35(1):30-42. Epub 2017 Oct 16 doi: 10.1111/pde.13304. PMID: 29034507
Zhang Y, Jiang S, Chen H, Zou X
An Bras Dermatol 2017 Jul-Aug;92(4):559-561. doi: 10.1590/abd1806-4841.20176431. PMID: 28954113Free PMC Article
Zhang B, Zhang TH, Huang Z, Li Q, Yuan KH, Hu ZQ
Photodiagnosis Photodyn Ther 2014 Dec;11(4):491-7. Epub 2014 Jun 25 doi: 10.1016/j.pdpdt.2014.06.004. PMID: 24973576

Prognosis

Boos MD, Bozarth XL, Sidbury R, Cooper AB, Perez F, Chon C, Paras G, Amlie-Lefond C
J Am Acad Dermatol 2020 Oct;83(4):1110-1117. Epub 2020 May 12 doi: 10.1016/j.jaad.2020.05.017. PMID: 32413446
Sharma M, Hu X, Geddes GC, Acharya K
Neoreviews 2019 Mar;20(3):e170-e173. doi: 10.1542/neo.20-3-e170. PMID: 31261057
Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA
Br J Dermatol 2014 Oct;171(4):861-7. Epub 2014 Oct 1 doi: 10.1111/bjd.13203. PMID: 24976116Free PMC Article
Juern AM, Glick ZR, Drolet BA, Frieden IJ
J Am Acad Dermatol 2010 Nov;63(5):805-14. Epub 2010 Aug 21 doi: 10.1016/j.jaad.2009.08.066. PMID: 20728246
Troilius A, Svendsen G, Ljunggren B
Acta Derm Venereol 2000 May;80(3):196-9. doi: 10.1080/000155500750042961. PMID: 10954211

Clinical prediction guides

Fry MV, Williams BK Jr, Kim HJ, Di Nicola M
Retin Cases Brief Rep 2023 Mar 1;17(2):130-133. doi: 10.1097/ICB.0000000000001154. PMID: 33907078
Ren J, Tuan H, Huang C, Shu D, Chen D, Zhou EY, Liu D, Tu P, Zhao Y
J Cosmet Dermatol 2022 Jul;21(7):2931-2938. Epub 2021 Nov 6 doi: 10.1111/jocd.14574. PMID: 34741790
Boos MD, Bozarth XL, Sidbury R, Cooper AB, Perez F, Chon C, Paras G, Amlie-Lefond C
J Am Acad Dermatol 2020 Oct;83(4):1110-1117. Epub 2020 May 12 doi: 10.1016/j.jaad.2020.05.017. PMID: 32413446
Perruchoud DL, Cazzaniga S, Heidemeyer K, Weber B, Dietrich N, Borradori L, Adatto MA
J Eur Acad Dermatol Venereol 2017 Mar;31(3):557-563. Epub 2016 Oct 10 doi: 10.1111/jdv.13975. PMID: 27658196
Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA
Br J Dermatol 2014 Oct;171(4):861-7. Epub 2014 Oct 1 doi: 10.1111/bjd.13203. PMID: 24976116Free PMC Article

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