U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nevus flammeus

MedGen UID:
65911
Concept ID:
C0235752
Congenital Abnormality
Synonyms: Nevus Flammeus; Port Wine Stain; Port-Wine Stain; Port-Wine Stains; Stain, Port-Wine; Stains, Port-Wine
SNOMED CT: Port-wine stain of skin (416377005); PWS - Port-wine stain (416377005); Port-wine birthmark (416377005); Port-wine stain (416377005); Nevus flammeus (416377005); Port-wine nevus (416377005); Portwine nevus (416377005); Port wine stain of skin (416377005); Stork bite (254211001); Unna's nevus (254211001); Salmon patch nevus (254211001)
 
HPO: HP:0001052
OMIM®: 163000

Definition

A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. [from HPO]

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Mulibrey nanism syndrome
MedGen UID:
99347
Concept ID:
C0524582
Disease or Syndrome
Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).
Bohring-Opitz syndrome
MedGen UID:
208678
Concept ID:
C0796232
Disease or Syndrome
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.
Cornelia de Lange syndrome 3
MedGen UID:
339902
Concept ID:
C1853099
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Frontoocular syndrome
MedGen UID:
344278
Concept ID:
C1854405
Disease or Syndrome
Familial multiple nevi flammei
MedGen UID:
419699
Concept ID:
C2931029
Disease or Syndrome
A rare genetic capillary malformation characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21.
Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Intellectual disability, autosomal dominant 29
MedGen UID:
863578
Concept ID:
C4015141
Mental or Behavioral Dysfunction
SETBP1 haploinsufficiency disorder (SETBP1-HD) is characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Typically children with SETBP1-HD whose intellect is in the normal or borderline range (IQ 80-90) were diagnosed following genetic testing for behavioral problems and/or severe speech and language disorders (respectively: the inability to produce sounds in words correctly, and deficits in the understanding and/or expression of words and sentences). To date, 47 individuals with SETBP1-HD have been reported.
Autosomal dominant Robinow syndrome 1
MedGen UID:
1641736
Concept ID:
C4551475
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Autosomal recessive Robinow syndrome
MedGen UID:
1770070
Concept ID:
C5399974
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
Congenital disorder of glycosylation, type 2v
MedGen UID:
1794181
Concept ID:
C5561971
Disease or Syndrome
Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms (Polla et al., 2021).
Spastic paraplegia 90A, autosomal dominant
MedGen UID:
1841210
Concept ID:
C5830574
Disease or Syndrome
Autosomal dominant spastic paraplegia-90A (SPG90A) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023). For a discussion of genetic heterogeneity of autosomal dominant SPG, see SPG3A (182600).

Professional guidelines

PubMed

Paasch U, Zidane M, Baron JM, Bund T, Cappius HJ, Drosner M, Feise K, Fischer T, Gauglitz G, Gerber PA, Grunewald S, Herberger K, Jung A, Karsai S, Kautz G, Philipp C, Schädel D, Seitz AT, Nast A
J Dtsch Dermatol Ges 2022 Sep;20(9):1248-1267. Epub 2022 Sep 13 doi: 10.1111/ddg.14879. PMID: 36098675
Abdolrahimzadeh S, Pugi DM, de Paula A, Scuderi G
Surv Ophthalmol 2021 May-Jun;66(3):482-492. Epub 2020 Oct 13 doi: 10.1016/j.survophthal.2020.10.002. PMID: 33058925
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423

Recent clinical studies

Etiology

Snyder KAM, Voelckers AD
Am Fam Physician 2024 Mar;109(3):217-221. PMID: 38574211
Yuan Z, Li Y
Panminerva Med 2021 Sep;63(3):400-401. Epub 2020 Nov 26 doi: 10.23736/S0031-0808.20.04184-1. PMID: 33238702
Zammit M, Caruana E, Cassar D, Calleja-Agius J
Neonatal Netw 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. PMID: 28494824
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article
Happle R
Arch Dermatol 2005 Mar;141(3):385-8. doi: 10.1001/archderm.141.3.385. PMID: 15781681

Diagnosis

Kudava K
Skinmed 2022;20(4):317-318. Epub 2022 Aug 31 PMID: 35976027
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423
Zammit M, Caruana E, Cassar D, Calleja-Agius J
Neonatal Netw 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. PMID: 28494824
Van Gysel D, Oranje AP, Stroink H, Simonsz HJ
Pediatr Dermatol 1996 Jan-Feb;13(1):33-5. doi: 10.1111/j.1525-1470.1996.tb01184.x. PMID: 8919522
Paller AS
Pediatr Dermatol 1987 Dec;4(4):300-4. doi: 10.1111/j.1525-1470.1987.tb00797.x. PMID: 3328186

Therapy

Chou M, Karim M, Josephs J, Itzkowitz T, Dreker MR, Labadie JG
Lasers Surg Med 2024 Jan;56(1):39-44. Epub 2023 Jul 11 doi: 10.1002/lsm.23706. PMID: 37431532
Yuan Z, Li Y
Panminerva Med 2021 Sep;63(3):400-401. Epub 2020 Nov 26 doi: 10.23736/S0031-0808.20.04184-1. PMID: 33238702
Chen CP
Taiwan J Obstet Gynecol 2007 Jun;46(2):96-102. doi: 10.1016/S1028-4559(07)60002-3. PMID: 17638616
Torres JE, Sánchez JL
P R Health Sci J 1995 Mar;14(1):21-2. PMID: 7777664
Braverman IM
J Invest Dermatol 1989 Aug;93(2 Suppl):2S-9S. doi: 10.1111/1523-1747.ep12580893. PMID: 2666519

Prognosis

Yuan Z, Li Y
Panminerva Med 2021 Sep;63(3):400-401. Epub 2020 Nov 26 doi: 10.23736/S0031-0808.20.04184-1. PMID: 33238702
Zammit M, Caruana E, Cassar D, Calleja-Agius J
Neonatal Netw 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. PMID: 28494824
Pappas JG
Curr Probl Pediatr Adolesc Health Care 2015 Apr;45(4):112-7. Epub 2015 Apr 7 doi: 10.1016/j.cppeds.2015.03.001. PMID: 25861997
Happle R
Arch Dermatol 2005 Mar;141(3):385-8. doi: 10.1001/archderm.141.3.385. PMID: 15781681
Hatzis J, Kostakis P, Tosca A, Parissis N, Nicolis G, Varelzidis A, Stratigos J
Dermatologica 1988;177(3):149-51. doi: 10.1159/000248533. PMID: 3169340

Clinical prediction guides

Snyder KAM, Voelckers AD
Am Fam Physician 2024 Mar;109(3):217-221. PMID: 38574211
Chou M, Karim M, Josephs J, Itzkowitz T, Dreker MR, Labadie JG
Lasers Surg Med 2024 Jan;56(1):39-44. Epub 2023 Jul 11 doi: 10.1002/lsm.23706. PMID: 37431532
Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoğlu U
Clin Genet 2022 Sep;102(3):201-217. Epub 2022 Jul 12 doi: 10.1111/cge.14177. PMID: 35699517
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J
Can J Neurol Sci 2008 Jul;35(3):301-7. doi: 10.1017/s0317167100008878. PMID: 18714797

Recent systematic reviews

Chou M, Karim M, Josephs J, Itzkowitz T, Dreker MR, Labadie JG
Lasers Surg Med 2024 Jan;56(1):39-44. Epub 2023 Jul 11 doi: 10.1002/lsm.23706. PMID: 37431532
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...