The Natural History of Soft Tissue Hypertrophy, Bony Hypertrophy, and Nodule Formation in Patients With Untreated Head and Neck Capillary Malformations

Lee, Jeong Woo; Chung, Ho Yun; Cerrati, Eric W.; O, Teresa M.; Waner, Milton

doi:10.1097/dss.0000000000000525

Cited by 44 publications

(29 citation statements)

References 18 publications

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“…Nodules are estimated to occur in 44% of untreated patients with an average age onset of 22 years 21 ; other reports show that the nodular percentage in mixed subjects with treated or untreated PWS is approximately 10% with a mean onset in the 20–39-year age group. 22,23 These variations are probably due to early laser intervention, which can significantly delay the onset of PWS nodularity.…”

Section: Discussionmentioning

confidence: 96%

Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions

Yin

Gao

Tan

et al. 2017

The American Journal of Dermatopathology

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Abstract:Port wine stain (PWS) is a congenital, progressive vascular malformation. Many patients with PWS develop hypertrophy and discrete nodularity during their adult life, but the mechanism(s) remain incompletely understood. In this study, we attempted to investigate activation status of PKCα, PI3K, PDPK1 and PLC-γ and protein levels of PP2A and DAG to explore their potential roles in the formation of hypertrophic and nodular PWS lesions. We found phosphorylated levels of PKCα, PI3K, PDPK1, and PLC-γ and protein levels of PP2A and DAG showed moderate increases in the endothelial cells of hypertrophic PWS as compared to the adjacent normal skin. These increases extended throughout the entire stroma of blood vessels in PWS nodules. Many proliferating cells, such as fibroblasts, also showed strong activation of PKCα, PI3K, PDPK1 and PLC-γ and upregulations of PP2A and DAG in nodular PWS lesions. Our data showed that there is aberrant activation of PKCα, PI3K, PDPK1 and PLC-γ and upregulation of PP2A and DAG mainly in endothelial cells in hypertrophic PWS areas, but presenting in the entire vasculatures and surrounding fibroblasts in PWS nodules. Our data suggest that both PKCα and PI3K signaling pathways contribute to the development of hypertrophy and nodularity in adult PWS.

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Section: Discussionmentioning

confidence: 96%

Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions

Yin

Gao

Tan

et al. 2017

The American Journal of Dermatopathology

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“…A previous study of PWS demonstrated that the lips (both upper and lower) were the most frequently affected sites of hypertrophy, with involvement in 91% of cases of PWS (89 of 98, P < 0·001) . Another statistic showed that among all of the soft tissues and bone, the upper lips were the most common site of hypertrophy (31%) . In addition, 29·2% of cases of PWM were found to involve PWS‐associated hypertrophy of other parts of the face (the nose, cheek, ear, chin and/or forehead) …”

Section: Discussionmentioning

confidence: 99%

“…Although hypertrophic PWS exhibits poor response to laser treatment, such treatment has been shown to produce better results if begun at an earlier age, especially before the onset of hypertrophic PWS . Moreover, in PWM, the mucosal membranes are often contiguously involved; therefore, PWM often affects the mucosa and cutis. This finding suggests a causative correlation and the conclusion that PWM is congenital and affects all layers.…”

Section: Discussionmentioning

confidence: 99%

“…6 This hypertrophy involved all segments of the face, and the lips were the most frequently affected site. 6,7 The term 'portwine macrocheilia' (PWM) refers to PWS accompanied by soft-tissue and lip hypertrophy. Sturge-Weber syndrome (SWS), also known as encephalofacial angiomatosis, is a neurocutaneous disorder characterized by a PWS, which is associated with venous capillary anomalies of the leptomeninges and the eyes, especially with the symptoms of glaucoma, seizures, stroke and intellectual disability.…”

mentioning

confidence: 99%

“…In epidemiological studies, 60% (96 of 160) of patients with PWS demonstrated progression of the disease, including soft‐tissue or bony hypertrophy, or even nodule formation . This hypertrophy involved all segments of the face, and the lips were the most frequently affected site . The term ‘port‐wine macrocheilia’ (PWM) refers to PWS accompanied by soft‐tissue and lip hypertrophy.…”

mentioning

confidence: 99%

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Somatic GNAQ mutation in different structures of port-wine macrocheilia

Zhang

Liu

et al. 2018

Br J Dermatol

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In patients with PWM, GNAQ was mutated in all tissues except for glands. PWM is congenital, and all tissue layers exhibit primary hypertrophy rather than acquired or partially related hypertrophy. Given the advantages of mucosal biopsy, including practicality, lack of scarring and rapid healing, GNAQ mutation in the lip mucosa may be a useful predictor for early-stage PWM in patients with port-wine stains affecting the lips.

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Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome

et al. 2021

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IMPORTANCE Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking. OBJECTIVE To consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs). EVIDENCE REVIEWIn this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended.FINDINGS Treatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis. CONCLUSIONS AND RELEVANCEThese recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.The goals of this consensus statement are to review the literature and provide an approach to risk stratification and evaluation of PWBs, offer guidance on diagnostic workup for patients with suspected or newly diagnosed SWS, and assess current treatment options for PWBs in light of the patient's age and condition severity. The treatment recommendations are currently applicable to all patients with a PWB. MethodsTwelve national experts in dermatology were consulted to develop a consensus statement on the management and treatment of cutaneous manifestations of SWS as part of a larger consensus statement. The panel was created from a list of experts provided by the Sturge-Weber Foundation who had significant experience in treating patients with SWS and patients with PWBs who agreed to participate. Three key needs were identified: (1) risk stratification and evaluation of PWBs, (2) optimum treatment strategies for PWBs, and (3) specific recommendations regarding light-based therapies. The expert group was divided into 4 subgroups that formulated questions to address each topic. An extensive literature review was performed using PubMed for English-language articles published between December 1, 2008, and December 1, 2018, an arbitrarily selected date range, to explore articles within the past 10 years. Articles before 2008or after 2018were added by the expert panel based on importance. Search terms in...

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The Natural History of Soft Tissue Hypertrophy, Bony Hypertrophy, and Nodule Formation in Patients With Untreated Head and Neck Capillary Malformations

Abstract: This study demonstrates the nature progression of CM and quantifies the clinical characteristics of hypertrophy and nodule formation with untreated head and neck CM. Early and continuous treatment is recommended in hopes of preventing CM progression.

Cited by 44 publications

References 18 publications

Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions

Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions

Somatic GNAQ mutation in different structures of port-wine macrocheilia

Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome

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