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BMJ Case Reports Oct 2023This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her...
This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her presentation she had a fall which made her notice a painless foot drop on the right. Her right leg was profoundly hypertrophied compared with the left, and a port-wine stain was present on the lateral side, extending from the hip to the mid-shin. The patient's differential diagnosis based on clinical examination and investigations is discussed leading to a final diagnosis of sciatic neuropathy secondary to an arteriovenous malformation due to Parkes Weber syndrome.
Topics: Female; Humans; Arteriovenous Malformations; Klippel-Trenaunay-Weber Syndrome; Peroneal Neuropathies; Port-Wine Stain; Sturge-Weber Syndrome; Aged
PubMed: 37793841
DOI: 10.1136/bcr-2022-254455 -
Skinmed 2023
PubMed: 37771018
DOI: No ID Found -
Dermatology and Therapy Oct 2023Port-wine stains (PWS) are congenital capillary abnormalities caused by immature, venule-like vasculature that progressively dilates due to poor endothelial cell...
INTRODUCTION
Port-wine stains (PWS) are congenital capillary abnormalities caused by immature, venule-like vasculature that progressively dilates due to poor endothelial cell differentiation. PWS affects between 0.3% and 0.9% of newborns, with 90% of cases occurring on the face. Individuals with facial PWS and their parents had a significant negative impairment on their quality of life (QoL) and also suffered from psychological disabilities.
METHODS
This was a cross-sectional questionnaire-based survey study in Thailand from July 2021 to April 2022. The questionnaires included demographic data, subjective evaluation (SE), and the Dermatology Life Quality Index (DLQI). The questionnaire was performed with a full scale and adjusted scale of validity and reliability test of DLQI using factor analysis and Cronbach's alpha. The study outcome was a subjective evaluation and DLQI in patients who received pulsed dye laser (PDL) treatment.
RESULTS
Of the 54 patients, 35.2% (19) are male, and 64.8% (35) are female. Regarding age groups, 64.8% (35) are below 5 years old, and 35.2% (19) are older than 5 years. SE results showed that males evaluated an improvement of the facial PWS lesion significantly better than females (P < 0.05). The older age group graded the percentage of improvement better than the younger age group (P < 0.01). The result of the DLQI showed no difference in DLQI between gender. Older age result resulted in a significantly different DLQI compared with younger age (P < 0.01). Parent-reported DLQI improvement was less than self-reported DLQI improvement in patients with PWS treated with PDL (P < 0.05). Concerning the instrument of the study, the validity and reliability analysis of the DLQI questionnaire using factor analysis and Cronbach's alpha have been performed. The adjusted scale with the 5-item DLQI questionnaire is more appropriate in terms validity and reliability.
CONCLUSION
This study demonstrates that facial PWS reduces the QoL as measured by DLQI. We discovered that the QoL of patients and parents with PWS was significantly impaired. The main influencing factors were older age, the improved perception between gender, and PDL treatments. In addition, we found only five questions that are reliable for PWS. The adjusted five-item DLQI questionnaires are more appropriate regarding validity and reliability.
TRIAL REGISTRATION NUMBER
TCTR20230210001, COA no. si 1059/2020.
PubMed: 37710079
DOI: 10.1007/s13555-023-01011-0 -
The British Journal of Dermatology Nov 2023Lesional induced pluripotent stem cell-derived endothelial cells can resemble pathological vascular phenotypes of port-wine birthmark (PWB). Our data demonstrate that...
Lesional induced pluripotent stem cell-derived endothelial cells can resemble pathological vascular phenotypes of port-wine birthmark (PWB). Our data demonstrate that multiple pathways, including Hippo and Wnt, NFκB, TNF, MAPK and cholesterol metabolism, are dysregulated. These data suggest new therapeutics can be developed to target such dysregulated pathways in the treatment of PWB.
Topics: Humans; Endothelial Cells; Induced Pluripotent Stem Cells; Port-Wine Stain; Cell Differentiation; Vascular Malformations
PubMed: 37672656
DOI: 10.1093/bjd/ljad330 -
Journal of Glaucoma Jan 2024Among children with unilateral glaucoma associated with Sturge-Weber syndrome (SWS), 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier...
PRCIS
Among children with unilateral glaucoma associated with Sturge-Weber syndrome (SWS), 7 of 47 demonstrated involvement in the fellow eye, and that group had had earlier first-eye surgery relative to the noninvolvement group.
PURPOSE
The aim of this study was to determine the incidence of and risk factors for fellow-eye involvement in children with unilateral SWS-associated glaucoma.
MATERIALS AND METHODS
Children diagnosed with a unilateral facial port-wine stain and ipsilateral glaucoma before the age of 5 and followed up for at least 5 years were enrolled. The incidence rates of fellow-eye glaucoma involvement were estimated per 100 person-years, and factors associated with a higher incidence of fellow-eye involvement were investigated.
RESULTS
A total of 47 children [24 (51.1%) girls] with unilateral SWS-associated glaucoma were included. All of them had facial port-wine stain involving ophthalmic division of the trigeminal nerve, and 18 (38.3%) had neurological comorbidities. The mean age at glaucoma diagnosis was 0.8±1.2 years [range, 0.08 (1 mo)-4.0 y]. Over a median follow-up of 8.4 years, glaucoma was diagnosed in the fellow eye of 7 of the children (14.9%; incidence rate of 1.8 per 100 person-years), 6 of whom were girls ( P =0.097) and 5 of whom were diagnosed before the age of 4 years ( P =0.508). The fellow-eye-involvement group showed significantly higher mean follow-up intraocular pressure in the fellow eye, older age at first-eye surgery (both P <0.005), and higher frequency of choroidal hemangioma both at first onset and in fellow eyes ( P =0.026 and 0.019, respectively).
CONCLUSIONS
In this cohort of SWS children diagnosed with unilateral glaucoma, the risk of fellow-eye involvement was higher in girls, within the first 4 years, and in cases with choroidal hemangioma. The fellow-eye-involved children underwent surgery on the first eye earlier than those without fellow-eye involvement.
Topics: Child; Female; Humans; Infant, Newborn; Child, Preschool; Male; Sturge-Weber Syndrome; Incidence; Port-Wine Stain; Intraocular Pressure; Glaucoma; Hemangioma; Risk Factors
PubMed: 37671496
DOI: 10.1097/IJG.0000000000002295 -
Orphanet Journal of Rare Diseases Sep 2023Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to...
BACKGROUND
Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations.
METHODS
Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital. Genomic DNA of skin lesion of each patient was extracted and sequenced by whole-exome sequencing to identify pathogenic somatic mutations. Mutations with variant allele frequency less than 5% were validated by ultra-deep sequencing.
RESULTS
A total of 67 pediatrics (33 males, 34 females, age range: 0.1-14.8 years) were analyzed. Exome sequencing identified somatic mutations of corresponding genes in 53 patients, yielding a molecular diagnosis rate of 79.1%. Among 29 PIK3CA mutations, 17 were well-known hotspot p.E542K, p.E545K and p.H1047R/L. Non-hotspot mutations were prevalent in patients with PIK3CA-related overgrowth spectrum, accounting for 50.0% (11/22) of detected mutations. The hotspot GNAQ p.R183Q and TEK p.L914F mutations were responsible for the majority of port-wine stain/Sturge-Weber syndrome and venous malformation, respectively. In addition, we identified a novel AKT1 p.Q79K mutation in Proteus syndrome and MAP3K3 p.E387D mutation in verrucous venous malformation.
CONCLUSIONS
The somatic mutation spectrum of vascular malformations in Chinese population is similar to that reported in other populations, but non-hotspot PIK3CA mutations may also be prevalent. Molecular diagnosis may help the clinical diagnosis, treatment and management of these pediatric patients with vascular malformations.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Class I Phosphatidylinositol 3-Kinases; East Asian People; Hemangioma; Mutation; Vascular Malformations
PubMed: 37658401
DOI: 10.1186/s13023-023-02860-w -
Skin Research and Technology : Official... Aug 2023The Flash-lamp pulsed dye laser (FPDL) is nowadays considered the most precise laser currently on the market for treating superficial vascular lesions. In this study, we...
INTRODUCTION
The Flash-lamp pulsed dye laser (FPDL) is nowadays considered the most precise laser currently on the market for treating superficial vascular lesions. In this study, we gathered data from 10 years of experience regarding dye laser treatment of patients presenting vascular malformations such as telangiectasia, rhinophyma, port-wine stain, cherry and spider angioma and vascular tumours.
METHODS
Subjects were enrolled from 2013 to 2023 based on the vascular anomalies they presented. They underwent different treatment sessions with the FPDL device.
RESULTS
The age-range distribution by vascular anomaly confirmed that haemangiomas are typical in children while rhinophyma is a condition very common in older adults. A difference in sex distribution showed that pathologies such as telangiectasias typically affect women whereas rhinophyma is more frequent in men. Most of the treatments interested the face area but no permanent side effects were registered.
CONCLUSIONS
Our 10 years of experience with FPDL demonstrated good results in a wide range of applications for the treatment of different vascular anomalies. The absence of long-term side effects and bearable pain during the treatment makes it a valuable solution for the resolution of benign tumours also in very young patients.
Topics: Female; Humans; Male; Lasers, Dye; Retrospective Studies; Rhinophyma; Hemangioma; Vascular Malformations
PubMed: 37632184
DOI: 10.1111/srt.13427 -
European Journal of Dermatology : EJD Jun 2023
Topics: Humans; Port-Wine Stain; Hemangioma, Capillary; Raynaud Disease
PubMed: 37594342
DOI: 10.1684/ejd.2023.4490 -
Pediatric Dermatology 2024Port wine birthmarks (PWB) are capillary vascular malformations within the papillary and reticular dermis, most commonly occurring on the head and neck and may darken...
Port wine birthmarks (PWB) are capillary vascular malformations within the papillary and reticular dermis, most commonly occurring on the head and neck and may darken and thicken with age. Pulsed dye laser (PDL) is the gold standard of treatment for PWB as it selectively targets involved vessels. Sirolimus is a macrolide antibiotic that selectively inhibits mammalian target of rapamycin, thereby suppressing the angiogenesis pathways that can be activated by PDL. Sirolimus and PDL may be used together to treat PWB. We present a case series describing three cases of delayed ulceration and systemic sirolimus absorption following combination therapy, highlighting a potential complication and patient safety concern.
Topics: Humans; Sirolimus; Lasers, Dye; Immunosuppressive Agents; Port-Wine Stain; Administration, Topical; Treatment Outcome; Laser Therapy; Capillaries; Vascular Malformations
PubMed: 37571864
DOI: 10.1111/pde.15409