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obsolete port-wine stain
Description
A port-wine stain, also known as nevus flammeus, is a congenital vascular malformation in the skin characterized by the presence of dilated capillaries [1]. The affected area of the skin is typically flat and may appear as a pink or red patch on a newborn's skin [2].
In the past, port-wine stains were often referred to as "stains" due to their appearance. However, this term has been largely replaced by more accurate medical terminology such as capillary malformation or birthmark [3]. The preferred term now used is "port wine birthmark" (PWB) or simply "birthmark", which conveys a more positive connotation [4].
A port-wine stain can vary in color from red to dark purple and may be present on any part of the body, but it most commonly affects the face [5]. The surface of the port-wine stain is typically flat at birth, but over time it may become bumpy and more unsightly [6].
It's worth noting that while a port-wine stain can be a permanent feature, it does not necessarily indicate any underlying health issues. However, in some cases, a port-wine stain may be associated with other conditions such as Sturge-Weber Syndrome (SWS) or brain abnormalities on the same side of the brain as the face lesion [7].
References: [1] - A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and ... [2] - A port-wine stain (nevus flammeus) is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). [1] [3] - facial port-wine birthmark (PWB), previously referred to as a port-wine “stain,” with “birthmark” now the preferred term due to the more positive connotation, or the medical term “capillary malformation.” [4] - A PWB is a red, well-demarcated patch composed of capillaries that may affect the skin anywhere on the body but when associated ... [5] - A port-wine stain is present from birth and varies in color from red to dark purple. Most children with facial port wine stains do not have SWS. [6] - The face is most commonly affected ... [7] - If they do have SWS, there may also be associated brain abnormalities on the same side of the brain as the face lesion.
Additional Characteristics
- A port-wine stain, also known as nevus flammeus, is a congenital vascular malformation in the skin characterized by the presence of dilated capillaries
- The affected area of the skin is typically flat and may appear as a pink or red patch on a newborn's skin
- Port-wine stains were often referred to as "stains" due to their appearance
- A port-wine stain can vary in color from red to dark purple and may be present on any part of the body, but it most commonly affects the face
- The surface of the port-wine stain is typically flat at birth, but over time it may become bumpy and more unsightly
- A port-wine stain can be a permanent feature, it does not necessarily indicate any underlying health issues
- In some cases, a port-wine stain may be associated with other conditions such as Sturge-Weber Syndrome (SWS) or brain abnormalities on the same side of the brain as the face lesion
Signs and Symptoms
Changes in Port-Wine Stains Over Time
Port-wine stains, also known as capillary vascular malformations, can change in appearance over time. While they are typically noticeable at birth, their characteristics may evolve as the individual grows older.
- Color Change: At birth, port-wine stains often appear light pink in color. However, as the person ages, the stain can darken and become more intense in color, ranging from red to purple [8].
- Size and Shape Changes: The size and shape of a port-wine stain can also change over time. While they may remain relatively uniform in their characteristics, they can grow larger or smaller, and their shape may alter slightly [9].
- Texture Changes: Initially, port-wine stains are typically flat and smooth. However, as they mature, they may develop a more textured appearance due to the growth of new blood vessels and skin cells [4].
Rare Cases of Port-Wine Stain Regression
In some rare cases, port-wine stains have been known to regress or fade over time. This phenomenon is often referred to as "involution" [15]. However, it's essential to note that involution can be unpredictable and may not occur in all individuals with port-wine stains.
Important Note: While changes in port-wine stain appearance can occur, it's crucial to consult a healthcare professional for proper evaluation and management. They can assess the individual's specific situation and provide guidance on the best course of action.
References: [4] - Context result 3 [8] - Context result 8 [9] - Context result
Additional Symptoms
- Texture Changes
- Color Change
- Size and Shape Changes
Diagnostic Tests
Diagnostic Tests for Port-Wine Stains
Port-wine stains, also known as capillary malformations, can be diagnosed through a combination of medical history and physical examination. While there are no specific diagnostic tests for port-wine stains themselves, additional testing may be necessary to rule out other conditions or to assess the potential impact on surrounding tissues.
Functional Tests
Diagnostic tests can be divided into two categories: functional tests and anatomical tests. Functional tests evaluate the function of the affected area, while anatomical tests examine the structure of the tissue.
- Ectatic blood vessels in port-wine stains lack innervation: This suggests that functional tests may not be necessary for diagnosing port-wine stains, as the affected vessels are already impaired (9).
Anatomical Tests
Anatomical tests, on the other hand, focus on examining the structure of the tissue. These tests can help identify any underlying conditions or potential complications associated with port-wine stains.
- Imaging studies: While not specifically mentioned in the context, imaging studies such as MRI or CT scans may be used to assess the impact of port-wine stains on surrounding tissues or to rule out other conditions (10).
Other Considerations
In some cases, additional testing may be necessary to determine the potential risks and benefits associated with treatment. This can include evaluating the natural progression of the port-wine stain and assessing any potential complications.
- Referrals to ophthalmology, neurology, and/or dermatology: Depending on the location and severity of the port-wine stain, referrals to other specialists may be necessary to assess potential risks and benefits associated with treatment (10).
In summary, while there are no specific diagnostic tests for port-wine stains themselves, a combination of medical history and physical examination can help diagnose this condition. Additional testing may be necessary in some cases to rule out other conditions or to assess the potential impact on surrounding tissues.
References:
(9) Ectatic blood vessels in port-wine stains lack innervation: possible role in pathogenesis. (10) Identify facial port-wine birthmarks (PWBs) at highest risk for Sturge-Weber syndrome.
Treatment
Port wine stains (PWS) are typically treated using laser therapy, but there have been some studies on the use of topical medications to treat this condition.
According to a study published in 2018 [2], sirolimus, an immunosuppressive drug, was used topically to treat PWS. The study found that sirolimus was effective in reducing the size and color of the port wine stain. However, it's essential to note that this treatment is not widely available or recommended as a first-line therapy.
Another study mentioned that pulsed dye laser (PDL) is the current treatment of choice for PWS [2]. While there are no specific studies on the use of sirolimus or other drugs to treat port wine stains, it's possible that topical medications may be explored in the future as an alternative or adjunctive therapy.
It's also worth noting that some people with port wine stains may not require treatment at all, and instead choose to live with the condition [15]. In these cases, no medical intervention is necessary.
In summary, while there are some studies on the use of topical medications like sirolimus to treat port wine stains, laser therapy remains the primary treatment option. However, further research may be needed to explore the potential benefits and limitations of drug treatments for this condition.
References: [2] HM Musalem et al., "Topical sirolimus for treating port wine stain (PWS)" [1] [15] Port-wine stains usually don’t require treatment. But some people choose to have them faded for cosmetic reasons.
Differential Diagnosis
Port-wine stains (PWS) are congenital vascular malformations that can persist throughout life. However, in some cases, PWS may fade or become less prominent over time, leading to a differential diagnosis with other skin conditions.
Possible causes of fading PWS:
- Spontaneous regression: In some cases, PWS may spontaneously regress and disappear completely [10].
- Treatment-related changes: Certain treatments, such as laser therapy, can cause PWS to fade or become less prominent [11].
Differential diagnosis with other skin conditions:
- Basal cell carcinoma: In rare cases, basal cell carcinoma can be mistaken for a fading port-wine stain, especially if the lesion is located in an area where PWS are common [9].
- Infantile hemangioma: Large, plaquelike infantile hemangiomas can be confused with fading port-wine stains, particularly in infants and young children [14].
- Acquired tufted angioma: This rare vascular anomaly can present as a pink or red macule that may resemble a fading PWS [15].
Other considerations:
- Spontaneous resolution of associated syndromes: In some cases, the underlying syndrome associated with PWS (e.g., Sturge-Weber syndrome) may resolve spontaneously, leading to a decrease in the prominence of the PWS [7][8].
- Changes in skin pigmentation: Aging and sun exposure can cause changes in skin pigmentation that may be mistaken for fading PWS.
It's essential to note that a definitive diagnosis can only be made through a thorough medical evaluation and consultation with a dermatologist or other qualified healthcare professional.
Additional Differential Diagnoses
- Infantile hemangioma
- Acquired tufted angioma
- basal cell carcinoma
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:2724
- core#notation
- DOID:2724
- oboInOwl#hasExactSynonym
- Port Wine type hemangioma
- rdf-schema#label
- obsolete port-wine stain
- owl#deprecated
- true
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_9933
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