Vascular anomalies (VAs) can be present in any organ; however, the skin being the largest one, it is there where many of them are evident; some are visible at birth, others develop throughout life. Pediatric dermatologists are specially trained to distinguish VAs from their mimickers, which require different treatments and may harbor distinct prognoses. We resume the diagnostic and therapeutic tasks of pediatric dermatologist at our vascular anomaly clinics, as well as the differential diagnoses of mimickers of VAs.
Key points
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Vascular anomalies (VAs) frequently affect the skin.
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Accurate diagnosis of any skin lesion is key to successful management.
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Pediatric dermatologists are specially trained to distinguish VAs on the skin from their mimickers.
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VA clinics must include pediatric dermatologist to aid in the diagnosis, management, follow-up, and integral treatment of patients.
Introduction
Estimated prevalence of vascular anomaly (VA) is 4.5% of all pediatric dermatology consultations, 5% of all newborns may have a VA, and up to 12% of Caucasian infants show a vascular skin lesion. The latest classification produced by the International Society for the Study of Vascular Anomalies (ISSVA) in 2018 considers vascular tumors (VTs) and vascular malformations (VMs) as 2 different groups. ISSVA’s classification is being currently revised. VTs are cellular proliferations that escape the tissue’s signals for normal cell growth, cell differentiation, and death. However, VMs are developmental defects of the blood or lymphatic vessels due to somatic mutations in genes belonging to the phosphatidylinositol-3-kinase/Akt kinase/mammalian target of rapamycin (mTOR) (PI3K/AKT/mTOR) and Rat sarcoma/mitogen-activated protein kinases vasculogenesis signaling pathways, which may affect not only vascular tissue but also soft tissue or other organs, including bone. VT clinical behavior depends on their specific cell line, for example, infantile hemangiomas have a characteristic history of proliferation and involution; kaposiform hemangioendotheliomas keep growing and may produce Kasabach Merritt phenomenon; pyogenic granulomas grow very quickly and have spontaneous bleeding; and angiosarcomas have metastatic potential. VM progressively dilate, causing soft tissue hypertrophy, bleeding, coagulopathy, failure to thrive, or high-output cardiac failure.
Because VAs may present with different clinical features, patients with VAs should be cared for by several specialists, ideally constituting a VA clinic. Participants in such clinics must include pediatricians, pediatric dermatologists, hemato-oncologists, geneticists, pediatric surgeons, plastic surgeons, angiologists, interventional radiologists, and any other specialist that is needed, for example, gynecologist for VAs affecting the pelvis in female patients, ophthalmologist for those affecting the eyelids or the eye, and so forth.
History and physical examination (H&PE) of the suspected VA are the main elements to arrive to the correct diagnosis in 90% of patients. Imaging studies are useful to assess the influence on other organs, associated developmental field disorders, and to distinguish the lesion from other diseases.
Every patient with a suspected VA affecting the skin should be examined by a pediatric dermatologist or a dermatologist with interest and experience in the management of VA to achieve several goals.
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Perform a complete H&PE including the evaluation of physical growth and development.
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Consider differential diagnoses: benign and malignant tumors, cysts, and closure defects of embryonic structures, and treat accordingly.
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Distinguish among different VAs: infantile hemangioma, congenital hemangiomas, other VTs (kaposiform hemangioendothelioma, tufted angioma, and even angiosarcoma), venous malformations, lymphatic malformations, and arterio-venous malformations, and treat accordingly.
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Consider medical treatment options, such as propranolol for hemangiomas, rapamycin for lymphatic and venous malformations, thalidomide for arteriovenous malformations, alpelisib for phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndromes, or mitogen-activated protein kinase (MEK) inhibitors for specific lesions.
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Consider a skin biopsy in lesions with H&PE suggestive of diagnoses different than VA, in VA with insufficient response to treatments, and for tissue genomic tests.
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Consider pulsed dye laser treatment in capillary malformations.
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Referral to diagnostic radiology for sonography, , computed tomography scan, MRI, or angiography.
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Referral to pediatric surgery for other treatment options in VA: removal of redundant skin in involuted hemangiomas and excision in noninvoluting congenital hemangiomas or other vascular anomalies (VAs).
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Referral to interventional radiology for other treatment options in VA: embolization in noninvoluting congenital hemangiomas, sclerosis in venous malformations, or sclerosis/embolization in arteriovenous malformations. ,
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Referal to other specialties (genetics, pediatric ophthalmology, pediatric ofthopedics, pediatric neurology, pediatric hemato-oncology, etc) to perform a complete evaluation and treat associated syndromes of complications, such as PHACE or LUMBAR.PHACE: posterior fossa anomalies, hemangioma, arterial anomalies of the brain and aorta, cardiac, eye and sternal anomalies). LUMBAR (lower body hemangioma or other skin defects, urogenital anomalies, ulceration, myelopathy, bone deformities, anorectal malformations, arterial and renal anomalies).
Differential diagnosis of suspected vascular anomaly
Many skin diseases present with red, blue, or purple plaques or nodules, just as VAs do. Moreover, skin-colored nodules may be due to VAs, especially lymphatic malformations, but may also be due to other skin diseases or tumors ( Tables 1–4 ). To treat each of these lesions appropriately, several differential diagnoses must be considered.
| Benign Skin Tumors and cysts | Cell Origin | Localization | Clinical Features | Evolution | Age | Frequency | Treatment |
|---|---|---|---|---|---|---|---|
| Pilomatricoma | Hair follicle matrix | Head, neck, trunk, and upper limbs | Asymptomatic, subcutaneous polyhedric, firm or hard, mobile tumor Skin colored, bluish, or reddish 0.5–6 cm in diameter |
Slow growth, sometimes spontaneous involution | School-aged children and teenagers | Common | Surgical excision |
| Spitz nevus | Melanocytes | Mainly head, neck, lower limbs but may occur elsewhere | Asymptomatic, skin-colored, red, pink, brown or black tumor | Rapid growth over some months, occasionally may bleed, or be painful | Children and young adults | Common in Caucasian children | Surgical excision |
| Neurothekeoma | Peripheral nerve sheath | Head, neck, trunk, and upper limbs | Asymptomatic, reddish cutaneous tumor Myxoid, cellular, and mixed types Cellular type may have atypia |
Rapid growth over some months | School-aged children, teenagers, adults | Uncommon | Surgical excision |
| Epidermoid (inclusion) cyst | Keratinocytes and epidermal entrapment | Any location | Asymptomatic skin-colored spherical cyst with a central punctum. Some may be associated with fusion defects of embryonic structures | Slow growth | Any age | Common | Surgical excision |
| Trichilemmal cyst | Outer root sheath of the hair follicle | Scalp, limbs, and neck | Asymptomatic spherical, rubbery subcutaneous cysts of skin color, or pink | Slow growth | Teenagers and adults | 5%–10% of the population | Surgical excision |
| Xanthogranuloma | Non–Langerhans cell histiocytes | Head, neck, and limbs | Asymptomatic reddish-orange tumor 0.5–3 cm | Self-limited growth, spontaneous involution | First year of life | 1.5% of pediatric tumors | Active surveillance or surgical excision |
| Eccrine poroma | Intraepidermal portion of the eccrine sweat duct | Palms, soles, chest, eye, and buttocks | Painful red-colored or skin-colored tumor | Slow growth | Adults | rare | Surgical excision |
| Myofibroma | Myofibroblast | Trunk and limbs | Elastic, hard, reddish to yellowish tumor | Congenital or slow growth, self-limited growth, spontaneous involution. When multiple lesions, systemic involvement may occur | First 2 years of life | common | Active surveillance, occasionally, systemic treatment |
| Fibrous hamartoma | Fibroblastic/myofibroblastic cells, mature adipose tissue, highly vascular, and myxoid nodules | Axillary region, upper arm, upper trunk, inguinal region, and external genital area | Asymptomatic, subcutaneous tumor | Congenital or slow growth | Congenital or first year of life | Rare | Surgical excision |
| Developmental Defects | Cell Origin | Localization | Clinical Features | Evolution | Age | Frequency | Treatment | |
|---|---|---|---|---|---|---|---|---|
| Dermoid cyst | Epidermal entrapment along embryonic fusion lines | Head, neck, and trunk | Asymptomatic, spherical subcutaneous cyst of skin color | Congenital | Newborns, children, and teenagers | Rare: 3/10,000 pediatric patients | Surgical excision | |
| Nasal glioma | Cerebral heterotopia | Nasal dorsum | Compressible smooth mass | Congenital | Newborns | Rare | Surgical excision | |
| Meningocele | Failure of neurulation | Posterior midline and facial midline | Subcutaneous masses with loss of neurologic function distal to the lesion level | Congenital | Newborns | 1:1000 pregnancies | Multidisciplinary | |
| Preauricular cysts | Failure of fusion of branchial arches | Cheek | Asymptomatic spherical subcutaneous cyst of skin color | Congenital | Newborns, children, and teenagers | 0.02%–5% of general population | Surgical excision | |
| Thyroglossal duct cysts | Thyroid remnants | Anterior neck, base of the tongue, and suprasternal | Painless swelling that moves when patient swallows | Congenital | Mainly younger than 10-year-olds | 7% of general population | Surgical excision | |
| Bronchogenic cyst | Bronchial epithelium | Neck | Slow growing symptomatic or asymptomatic tumor, depending on the proximity to the airway | Congenital | Newborns, children, occasionally teenagers and adults | Rare | Surgical excision | |
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