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Photodiagnosis and Photodynamic Therapy Jun 2023Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) has been approved for port-wine stain (PWS) in China in 2017. This study evaluated the efficacy and safety of...
BACKGROUND
Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) has been approved for port-wine stain (PWS) in China in 2017. This study evaluated the efficacy and safety of Hemoporfin-PDT for PWS in a real life setting and investigated factors that influence the efficacy.
METHODS
A multicenter retrospective study included patients with PWS who underwent Hemoporfin-PDT in 29 hospitals across China and completed at least two months of follow-up. The efficacy was evaluated based on patien photographs.
RESULTS
A total of 1679 patients were included. After the first and second sessions of Hemoporfin-PDT, 63.5 and 75.3% of patients responded, respectively. The response rate of purple-type PWS was significantly lower than that of pink-type PWS (OR: 0.71, 95% CI: 0.54-0.94, P < 0.05), and there was no significant difference between thick- and pink-type (OR: 0.72, 95% CI: 0.42-1.22, P > 0.05). The response rate of PWS on the limbs was significantly lower than that on the mid-face (OR: 0.35, 95% CI: 0.23-0.53, P < 0.0001), while no significant difference was observed between PWS on the peripheral part of the face, neck or other parts of the body and PWS on the mid-face (P > 0.05). The response rate was lower in male patients with an age > 3 years or ≤ 6 years (P < 0.05). Previous treatment history did not affect the efficacy (P > 0.05). Hemoporfin-PDT was well tolerated.
CONCLUSION
Patients with PWS have a good response and good tolerance to Hemoporfin-PDT.
Topics: Humans; Male; Child, Preschool; Photochemotherapy; Port-Wine Stain; Photosensitizing Agents; Retrospective Studies; Hematoporphyrins
PubMed: 37001715
DOI: 10.1016/j.pdpdt.2023.103545 -
The Medical Journal of Malaysia Mar 2023Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of...
INTRODUCTION
Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of the ophthalmic branch of the trigeminal nerve and the affection of the leptomeninges in the brain in the form of abnormal capillary venous vessels. The aim of this study is to look at the clinical features as well as the correlation of SWS with other comorbidities in hospitalised children.
MATERIALS AND METHODS
Records of admitted children over the period 2000-2019 were retrospectively studied. Epidemiological variables, gender and age at the time of diagnosis, changes in the skin, central nervous system affection and ophthalmological changes were analysed and recorded.
RESULTS
Eleven cases of SWS were identified and included in the study. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific grapho-elements, with partial seizures presenting in five cases out eight total cases with epilepsy. Ophthalmological complications were common, with glaucoma and choroidal haemangioma being the most common. Cognitive problems were found in seven cases, headache in eight cases and hemiparesis in four.
CONCLUSION
SWS is associated with other medical conditions. The study has described some of the features of SWS and found its correlation with epilepsy and other neurological problems, glaucoma, headache, hemiparesis and cognitive problems.
Topics: Child; Humans; Infant; Child, Preschool; Sturge-Weber Syndrome; Retrospective Studies; Glaucoma; Epilepsy; Paresis; Headache
PubMed: 36988522
DOI: No ID Found -
Genes Feb 2023Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal...
Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same variant.
Topics: Female; Humans; Infant, Newborn; Child; Pregnancy; Mutation; p120 GTPase Activating Protein; Port-Wine Stain; Arteriovenous Malformations; GTPase-Activating Proteins
PubMed: 36980822
DOI: 10.3390/genes14030549 -
World Journal of Clinical Cases Feb 2023Klippel-Trenaunay syndrome (KTS) is a congenital vascular malformation with a complicated etiology. It is sporadic and clinically rare in occurrence. The typical...
BACKGROUND
Klippel-Trenaunay syndrome (KTS) is a congenital vascular malformation with a complicated etiology. It is sporadic and clinically rare in occurrence. The typical characteristics are capillary malformation (also known as port-wine stain), varicose veins and malformations, and bony and/or soft tissue hypertrophy with or without lymphatic malformation, which are known as the "classic clinical triad". Herein, a rare case of KTS characterized by crossed-bilateral limb hypertrophy accompanied by intermittent hematochezia and hematuria is reported.
CASE SUMMARY
We described a 37-year-old female with KTS. She was admitted to our hospital owing to the gradual enlargement of the left lower extremity along with intermittent hematochezia and hematuria. The patient was diagnosed to have hemorrhoid bleeding by other hospitals and treated with conventional hemostatic drugs, but continued to have intermittent gastrointestinal bleeding and hematuria. Therefore, she visited our hospital to seek further treatment. During hospitalization, relevant imaging and laboratory examinations and colonoscopy were performed. In combination with the patient's history and relevant examinations, we considered that the patient had a complex form of KTS. We recommended a combined diagnosis and treatment from the vascular, interventional, anorectal, and other departments, although she declined any further treatment for financial reasons.
CONCLUSION
The clinical manifestations of KTS are extensive and diverse and chiefly include the typical triad. However, Vascular malformations of KTS can also involve several parts and systems such as digestive and urogenital systems. Therefore, the atypical manifestations and rare complications necessitate the clinician's attention and are not to be ignored.
PubMed: 36818634
DOI: 10.12998/wjcc.v11.i4.922 -
Neurology May 2023
Topics: Humans; Young Adult; Port-Wine Stain; Klippel-Trenaunay-Weber Syndrome; Sturge-Weber Syndrome; Seizures; Melanosis
PubMed: 36720641
DOI: 10.1212/WNL.0000000000206901 -
Chinese Medical Journal Nov 2022
Topics: Humans; Port-Wine Stain; Hemangioma, Capillary
PubMed: 36583915
DOI: 10.1097/CM9.0000000000002124 -
Indian Journal of Dermatology 2022
PubMed: 36578767
DOI: 10.4103/ijd.ijd_78_21 -
Indian Journal of Dermatology,... 2023
Topics: Humans; Alopecia Areata; Port-Wine Stain; Psoriasis
PubMed: 36461797
DOI: 10.25259/IJDVL_1174_2021 -
Postepy Dermatologii I Alergologii Oct 2022One of the most common congenital vascular abnormalities in the dermal area of the skin is the port-wine stain (PWS).
INTRODUCTION
One of the most common congenital vascular abnormalities in the dermal area of the skin is the port-wine stain (PWS).
AIM
Researchers are trying to introduce more effective new methods of treatment of PWS.
MATERIAL AND METHODS
This clinical trial study was conducted on 60 patients in Huanggang Central Hospital during May 2020 to June 2021. Pulsed dye laser (PDL) only and PDL plus CO2 methods were used to treat PWS, the clearance scores of patients were assessed for both methods, and the side effects were examined.
RESULTS
The mean age of the patients was 26.87 ±9.67 years. The majority of the patients (80%) were female. Thirty-four (56.66%) patients had PWS in the malar area, 14 (23.33%) on their forehead, 5 (8.33%) on their chin, and 7 (11.7%) on neck. The efficacy of the treatment through clearance score shows that the quantitative mean of the clearance score of the patients in the PDL method was 2.71 ±0.54, and in the CO2 + PDL method it was 2.72 ±0.56 ( > 0.05). The qualitative comparison of clearance scores indicated that in the PDL method, 18 (30%) patients had acceptable clearance, 30 (50%) patients had good clearance, and 12 (20%) patients had excellent clearance. Also, for the PDL plus CO method, 25 (41.766) patients had acceptable clearance, 23 (38.34%) patients had good clearance, and 12 (20%) patients had excellent clearance.
CONCLUSIONS
For PWS patients under treatment with PDL plus CO, the hyperpigmentation side effect was greater than in patients with underlying PDL only.
PubMed: 36457672
DOI: 10.5114/ada.2022.119073 -
Cureus Oct 2022The Klippel-Trénaunay syndrome (KTS) is a rare form of a birth disorder that includes capillary malformation, hypertrophy of bones and soft tissues, and tortuous...
The Klippel-Trénaunay syndrome (KTS) is a rare form of a birth disorder that includes capillary malformation, hypertrophy of bones and soft tissues, and tortuous varicosities, as well as hypertrophy of the capillaries resulting in hemangiomas and port wine discoloration. KTS is also known as angio-osteohypertrophy syndrome and dysplastic angiopathy. In this case report, we describe the case of a 13-year-old female with multiple superficial varicosities on the medial aspect of her left leg since birth. Computed tomography angiogram assessed and identified abnormal venous drainage in the lower limb. Klippel-Trénaunay-Weber syndrome (KTWS) differs from KTS in that KTWS involves arteriovenous malformations.
PubMed: 36381931
DOI: 10.7759/cureus.30128