Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

Vascular birthmarks are common in neonates (prevalence: 20–30%) and mostly incidental findings sometimes with spontaneous regression (salmon patch and nevus simplex). Capillary malformations are found in about 1% and infantile hemangiomas are found in 4% of mature newborns. Vascular malformations are classified according to their most prominent vessel type. The term “capillary malformation” (port wine stain) includes a wide range of vascular lesions with different characteristics; they may be isolated or part of specific syndromic conditions. Part of the infantile hemangiomas and of the vascular malformations may require treatment for functional or cosmetic reasons, and in rare cases, investigations are also necessary as they represent a clue for the diagnosis of complex vascular malformation or tumors associated with extracutaneous abnormalities. Complex vascular malformations are mostly mosaicism due to early somatic mutations. Genetic advances have led to identify the main pathogenic pathways involved in this disease group. Diffuse capillary malformation with overgrowth, Klippel–Trenaunay syndrome, CLAPO syndrome, CLOVES syndrome, and megalencephaly-capillary malformation belong to the PIK3CA-related overgrowth. Capillary malformation–arteriovenous malformation underlies a fast-flow vascular malformation, sometimes manifesting as Parkes–Weber syndrome. Recognition of these different types of capillary vascular stains is sometimes difficult; however, associated findings may orient the clinicians while genetic testing may confirm the diagnosis. Lymphatic malformation frequently manifests as large masses that compress and/or infiltrate the surrounding tissues, representing a neonatal emergency when airways are involved. Infantile hemangiomas may cause functional and/or permanent esthetical damage, depending on their localization (such as periorbital area, lip, nose); large (more than 5 cm) infantile hemangiomas with a segmental distribution can be associated with obstruction or malformations of the underneath organs with complications: PHACE syndrome, LUMBAR/SACRAL syndrome, and beard infantile hemangioma. In our review, we discuss controversies regarding the international classification and emerging concepts in the field of vascular anomalies. Finally, we discuss potential developments of new, non-invasive diagnostic techniques and repurposing of target therapies from oncology. Complex and/or life-threatening vascular tumors and malformations are extremely rare events and they represent a considerable therapeutic challenge. Early recognition of clinical signs suggestive for a specific disease may improve therapeutic outcomes and avoid severe complications.

Vascular birthmarks

The spectrum of vascular birthmarks is described which varies from the simple common infantile haemangioma (strawberry) to rare potentially life-threatening complex and syndromic vascular anomalies (VA). Accurate diagnosis is essential for information on the natural history and prognosis and for patient care. Too often progress in the past has been hampered by confusion in clinical diagnosis among medical and surgical specialties. Advances in this area have been transformed by the International Society of Vascular Anomalies which updated its classification of VA in 2014. Classification has also been facilitated by advances in molecular genetics which not only has identified different phenotypes but also offers potential pathways for drug treatment. Many VAs are complex requiring a multidisciplinary approach to treatment as evidenced by the development of VA specialty clinics in most countries in recent years. Interventional radiology has revolutionized the management of many VA. We are now at the cusp of multiple exciting new discoveries, which have the potential to improve the quality of life for patients with VA, offering hope to many where previously there was none

Skin

This chapter reviews vascular malformations including the common vascular birthmark, nevus flammeus that is usually isolated, fades with time, and is of no clinical significance. The vascular birthmarks associated with complex segmental overgrowth are reviewed including Klippel Trenaunay syndrome, CLOVES, and the PIK3CA associated disorders. These disorders may sometimes not be evident in newborns although macrocephaly, apparent cutis marmorata, and limb asymmetry may suggest these diagnoses early. Cranial imaging and chronologic follow up help to establish the correct diagnosis. PHACES and SACRAL (LUMBAR) syndromes are distinctive but lack a known genetic cause. New treatment options for the PIK3CA disorders are emerging. The clinical case presentation features an infant with megalencephaly–capillary malformation–polymicrogyria syndrome (MCAP).

Neonatal Birthmarks: A Prospective Survey in 1000 Neonates

The majority of neonatal cutaneous conditions are benign and self-limited. However, some skin infections and specific birthmarks are serious and require proper management approaches. This study was a prospective survey of 1000 consecutive newborns at a tertiary care center in Northeast Thailand from September 2015 to 2016, which aimed to identify various cutaneous findings in newborns during their first 5 days of life. The authors found that Mongolian spots (66.7%) and sebaceous gland hyperplasia (60.9%) were the 2 most common cutaneous conditions found in the Thai population. Salmon patches were the most frequent vascular birthmarks (36%), followed by infantile hemangiomas (1.1%) and port wine stains (0.7%). Although majority of the neonatal cutaneous conditions are benign and self-limited, there were 8 cases (0.8%) of bullous impetigo in which both systemic and topical antibiotics were promptly prescribed.

Benign Cutaneous Tumors

Tumors of the cutaneous surface may arise from the epidermis, dermis, or subcutaneous tissue or from any of the specialized cell types in the skin or its appendages. Broad categories include tumors derived from epithelial, melanocytic, or connective tissue structures. Within each location or cell type, lesions are classified as benign, malignant, or, in certain cases, premalignant. Benign epithelial tumors include tumors of the surface epidermis that form keratin, tumors of the epidermal appendages, and cysts of the skin. Melanocytic (pigment-forming) lesions are very common. One of the most frequently encountered forms is the nevus cell nevus. Tumors that are derived from connective tissue include fibromas, histiocytomas, lipomas, leiomyomas, and hemangiomas. This chapter provides an overview of each type of tumor, including sections on epithelial tumors, tumors of the epidermal appendages, familial tumor syndromes, melanocytic tumors, neural tumors, connective tissue tumors, vascular birthmarks, acquired vascular disorders, Kimura disease, lipoma, leiomyoma, and lymphangioma circumscriptum. The sections discuss various forms and their diagnosis, differential diagnosis, and treatment. Figures accompany the descriptions. This chapter contains 83 references, 26 highly rendered figures, and 5 MCQs.

Benign Cutaneous Tumors

Tumors of the cutaneous surface may arise from the epidermis, dermis, or subcutaneous tissue or from any of the specialized cell types in the skin or its appendages. Broad categories include tumors derived from epithelial, melanocytic, or connective tissue structures. Within each location or cell type, lesions are classified as benign, malignant, or, in certain cases, premalignant. Benign epithelial tumors include tumors of the surface epidermis that form keratin, tumors of the epidermal appendages, and cysts of the skin. Melanocytic (pigment-forming) lesions are very common. One of the most frequently encountered forms is the nevus cell nevus. Tumors that are derived from connective tissue include fibromas, histiocytomas, lipomas, leiomyomas, and hemangiomas. This chapter provides an overview of each type of tumor, including sections on epithelial tumors, tumors of the epidermal appendages, familial tumor syndromes, melanocytic tumors, neural tumors, connective tissue tumors, vascular birthmarks, acquired vascular disorders, Kimura disease, lipoma, leiomyoma, and lymphangioma circumscriptum. The sections discuss various forms and their diagnosis, differential diagnosis, and treatment. Figures accompany the descriptions. This chapter contains 83 references, 26 highly rendered figures, and 5 MCQs.

COMMON BIRTH MARKS

Objectives: To identify the frequency of common birthmarks presenting inoutpatients department of dermatology until and to increase awareness among doctor aboutthe common phenomena. Patients and Study Design: A cross sectional study. Setting: OPDof Dermatology department of Dow University Hospital. Period: January 2014 till October 2014.Methods:During a year, by using non-probability convenient sampling only 100 patients of bothgenders were enrolled in the study after ensuring inclusion, exclusion criteria. Complete historywas recorded and a thorough general physical and cutaneous examination was performed.Information was collected on predesigned questionnaire after taking informed consent. DataAnalysis was carried out on SPSS statistics software. Results: Out of 100 patients, 43% weremales and 57% were females. In 69.6% patients, the birthmarks were noticed around time ofdelivery, 28.3% patients were noticed within 1st year of life and 2.2% later in 5 year. Pigmentedbirthmarks were identified in 65.2% patients while 34.8 % have vascular birthmarks.71.1% hadno changes in color during life span. While 37.8% had 1-3 cms birthmark and 45.7% havereported an increase in birthmark. Conclusions: We found birthmarks benign; they may growwith age but they do not need treatment unless there is concern either cosmetically or they havepain and discharge.