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HCA Healthcare Journal of Medicine 2022Description Klippel-Trénaunay syndrome is a rare genetic disorder that typically presents as a triad of symptoms consisting of venous malformations (varicosities),...
Description Klippel-Trénaunay syndrome is a rare genetic disorder that typically presents as a triad of symptoms consisting of venous malformations (varicosities), capillary malformations (port-wine stain), and limb overgrowth. We followed a 23-year-old African American male with a past medical history of peripheral vascular disease, who was visiting the dermatology clinic for a persistent skin lesion on his thigh. During physical examinations, we noted a subtle port-wine stain on his right leg, right leg hypertrophy, and peripheral vascular disease. Skin findings were difficult to observe on his darker skin tone, Fitzpatrick skin type VI, which may have led to the delayed diagnosis of Klippel-Trénaunay syndrome. The lesion of concern was removed during a follow-up visit and was consistent with an angiokeratoma. Our patient had not suffered any serious complications from his new diagnosis of Klippel-Trénaunay syndrome; however, there was a concern for thrombotic events.
PubMed: 37424607
DOI: 10.36518/2689-0216.1420 -
The Journal of Dermatological Treatment Dec 2023Although pulsed dye laser (PDL) is the treatment of choice for port-wine stains (PWS), clinical resistance to PDL has been observed in 20-30% of cases. Several... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Although pulsed dye laser (PDL) is the treatment of choice for port-wine stains (PWS), clinical resistance to PDL has been observed in 20-30% of cases. Several alternative treatment modalities have been introduced; however, there is still a lack of definite recommendations regarding the optimal treatment for difficult-to-treat PWS.
OBJECTIVE
We aimed to systematically review and analyze the comparative effectiveness among treatments for problematic PWS.
METHODS & MATERIALS
We systematically searched for comparative studies assessing treatments for patients with difficult-to-treat PWS through relevant biomedical databases until August 2022. A Network Meta-Analysis (NMA) was conducted to estimate the odds ratio (OR) for all pairwise comparisons. The primary outcome is the improvement of lesions of more than 25%.
RESULTS
Of the 2498 studies identified, six treatments from five studies were available for NMA. Compared with 585 nm short-pulsed dye laser (SPDL), intense pulsed light (IPL) was the most effective in clearing lesions (OR 11.81, 95% CI 2.15 to 64.89, very low confidence rating), followed by 585 nm long-pulsed dye laser (LPDL) (OR 9.95, 95% CI 1.75 to 56.62, very low confidence rating). The 1064 nm NdYAG, 532 nm NdYAG, and LPDL >585 nm exhibited potential superiority over SPDL 585 nm, although statistical significance was not observed.
CONCLUSIONS
IPL and 585 nm LPDL are likely to be more effective than 585 nm SPDL for treating difficult-to-treat PWS. Well-designed clinical trials are warranted to confirm our findings.
Topics: Humans; Lasers, Dye; Low-Level Light Therapy; Network Meta-Analysis; Port-Wine Stain; Treatment Outcome
PubMed: 37424384
DOI: 10.1080/09546634.2023.2231582 -
BMC Ophthalmology Jul 2023Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and...
BACKGROUND
Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms.
CASE PRESENTATION
We report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS.
CONCLUSIONS
This is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.
Topics: Male; Humans; Adult; Sturge-Weber Syndrome; Hemangioma; Glaucoma; Port-Wine Stain; Choroid Neoplasms
PubMed: 37407944
DOI: 10.1186/s12886-023-03057-2 -
Cureus May 2023A port-wine stain is a type of non-neoplastic hamartomatous malformation of capillary blood vessels, resulting from ectatic capillaries present from birth. Lobular...
A port-wine stain is a type of non-neoplastic hamartomatous malformation of capillary blood vessels, resulting from ectatic capillaries present from birth. Lobular capillary hemangioma is a form of capillary hemangioma that occurs from hamartomatous malformation of capillaries. In our report, we discuss the rare case of both port-wine stain and capillary haemangioma on the gingiva in a 22- year-old young male.
PubMed: 37284361
DOI: 10.7759/cureus.38642 -
Cureus Apr 2023Sturge-Weber syndrome (SWS) is a rare neurological disorder that is present at birth. It is characterized by a reddish-purple birthmark on the face, typically on one...
Sturge-Weber syndrome (SWS) is a rare neurological disorder that is present at birth. It is characterized by a reddish-purple birthmark on the face, typically on one side of the forehead and upper eyelid, and sometimes involving the scalp and ear. This birthmark, called a port-wine stain, is caused by an abnormal buildup of blood vessels in the skin. SWS can also cause neurological problems such as seizures, developmental delays, and problems with vision and coordination. Treatment for SWS typically includes a combination of medications to control seizures and other symptoms, as well as laser therapy or surgery to reduce the appearance of the birthmark. Additionally, physical therapy and other therapies can help improve vision and coordination. It is important to note that the symptoms and severity of SWS can vary widely from person to person, and early diagnosis and treatment can help improve outcomes.
PubMed: 37181990
DOI: 10.7759/cureus.37451 -
Optics Express Apr 2023Port wine stain (PWS) is a congenital cutaneous capillary malformation composed of ecstatic vessels, while the microstructure of these vessels remains largely unknown....
Port wine stain (PWS) is a congenital cutaneous capillary malformation composed of ecstatic vessels, while the microstructure of these vessels remains largely unknown. Optical coherence tomography angiography (OCTA) serves as a non-invasive, label-free and high-resolution tool to visualize the 3D tissue microvasculature. However, even as the 3D vessel images of PWS become readily accessible, quantitative analysis algorithms for their organization have mainly remained limited to analysis of 2D images. Especially, 3D orientations of vasculature in PWS have not yet been resolved at a voxel-wise basis. In this study, we employed the inverse signal-to-noise ratio (iSNR)-decorrelation (D) OCTA (ID-OCTA) to acquire 3D blood vessel images in vivo from PWS patients, and used the mean-subtraction method for de-shadowing to correct the tail artifacts. We developed algorithms which mapped blood vessels in spatial-angular hyperspace in a 3D context, and obtained orientation-derived metrics including directional variance and waviness for the characterization of vessel alignment and crimping level, respectively. Combining with thickness and local density measures, our method served as a multi-parametric analysis platform which covered a variety of morphological and organizational characteristics at a voxel-wise basis. We found that blood vessels were thicker, denser and less aligned in lesion skin in contrast to normal skin (symmetrical parts of skin lesions on the cheek), and complementary insights from these metrics led to a classification accuracy of ∼90% in identifying PWS. An improvement in sensitivity of 3D analysis was validated over 2D analysis. Our imaging and analysis system provides a clear picture of the microstructure of blood vessels within PWS tissues, which leads to a better understanding of this capillary malformation disease and facilitates improvements in diagnosis and treatment of PWS.
Topics: Humans; Port-Wine Stain; Tomography, Optical Coherence; Capillaries; Angiography
PubMed: 37157245
DOI: 10.1364/OE.485619 -
Clinical, Cosmetic and Investigational... 2023Port wine stain (PWS) is a congenital and progressive capillary malformation characterized by structural abnormalities of intradermal capillaries and postcapillary... (Review)
Review
Port wine stain (PWS) is a congenital and progressive capillary malformation characterized by structural abnormalities of intradermal capillaries and postcapillary venules. The visible manifestation is often considered a disfigurement and the accompanying social stigma often causes serious emotional and physical impact. Hematoporphyrin monomethyl ether (HMME) is a newly authorized photosensitizer for treating PWS in China. Hematoporphyrin monomethyl ether photodynamic therapy (HMME-PDT) has successfully treated thousands of Chinese patients with PWS since 2017, and HMME-PDT may be one of the most promising strategies for the treatment of PWS. However, there are few reviews published about the clinical use of HMME-PDT. So in this article, we want to briefly review the mechanism, efficacy evaluation, effectiveness and influencing factors, and the common postoperative reactions and treatment suggestions of HMME-PDT in the treatment of PWS.
PubMed: 37139084
DOI: 10.2147/CCID.S401447 -
The Application of Clinical Genetics 2023Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma,... (Review)
Review
Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It is caused by a postzygotic, somatic, gain-of-function variant of the gene, and more recently, the gene in association with distinctive clinical features. Neuroimaging can help identify and stratify patients at risk for significant complications allowing closer follow-up; although no presymptomatic treatment has been demonstrated to be effective to date, these patients could benefit from early treatment and/or supportive interventions. Choroid plexus (CP) thickness measurements in brain magnetic resonance imaging (MRI) have a high sensitivity and specificity for early and incipient changes in SWS. In contrast, the absence of pathologic findings makes it possible to rule out associated neurological involvement and leads to periodical observation, with new imaging studies only in cases of new clinical signs/symptoms. Periodic ophthalmological examination is also recommended every 3 months during the first year and yearly afterwards to monitor for glaucoma and choroidal hemangiomas. Treatment for SWS depends on the extent and areas that are affected. These include laser surgery for PWB, anticonvulsants in the case of brain involvement, with either seizures or abnormal EEG, and medical treatment or surgery for glaucoma. Sirolimus has been used in a limited number of patients and appears to be a safe and potentially effective treatment for cutaneous and extra-cutaneous features, however controlled clinical studies have not been carried out. Better knowledge of molecular pathways will help to develop future targeted treatments.
PubMed: 37124240
DOI: 10.2147/TACG.S363685 -
Cureus Mar 2023Sturge-Weber syndrome (SWS) is a rare neurocutaneous vascular disorder characterized by a facial birthmark known as a port-wine stain (PWS), eye abnormalities, and...
Sturge-Weber syndrome (SWS) is a rare neurocutaneous vascular disorder characterized by a facial birthmark known as a port-wine stain (PWS), eye abnormalities, and abnormal blood vessels in the brain. It is basically a multisystem disorder that can involve the nervous system, skin, and eyes (phakomatosis). We report a case of a 14-year-old female who presented to the outpatient department with a complaint of upper lip swelling. She had a visible PWS since birth on the left side of her face, which was extending onto the right side of the face as well. She had two episodes of paroxysmal hemiparesis that were four years apart. Moreover, she was diagnosed with epilepsy when she was three years old. She was treated for glaucoma as well when she was nine years old. She was diagnosed with SWS based on her medical history, grossly visible PWS, and neuroimaging findings. Treatment is mostly symptomatic, as no definitive treatment is yet available.
PubMed: 37069887
DOI: 10.7759/cureus.36224