Key learning points:
– Be able to differentiate between a vascular tumour and a vascular malformation
– Appreciate different types of haemangiomas and how to manage them
– Use the information available and family support groups to help parents deal with the birthmarks
There are many different types of birthmarks in children. Some are present at birth and others appear soon after birth. They range in different colours, types, texture and some may cause skin changes. Some have lumps and bumps and others are completely flat. Every third person in the population has a birthmark. In the literature at least 22 different types have been described. This article will concentrate on the most common and those that require attention and further management including advice on the care of the birthmarks.
The most common are vascular birthmarks in neonates and children. Vascular birthmarks can be divided into two main groups: vascular tumours and vascular malformations. These are further sub classified into different groups as per the new classification by the international society and study of vascular anomalies (ISSVA) in 2014 at the congress held in Australia.1
The most common are the infantile haemangiomas, followed by congenital haemangiomas and the rare kaposiform haemangio endotheliomas and the tufted angiomas. The infantile haemangiomas are true endothelial tumours which are dynamic, proliferative endothelial anomalies with the hallmark being rapid growth. The proliferative phase has a high expression of proliferating cell nuclear antigen, endothelial growth factor, type 4 collegen, urikinase and the basic fibroblast growth factors. There is active angiogenesis and shows that infantile haemangiomas are different from other types of haemangiomas and from the vascular malformations.
Types of infantile haemangiomas:
1.Capillary/strawberry naevus (superficial and red in colour).
2.Deep (bluish and deep into the skin. They can look like a bruise and tend to be raised too).
3.Mixed (mixture of red and deeper blue components).
4.Multiple haemangiomas in the same child.
5.Neonatal haemangiomatosis (rare).
6.Haemangiomas associated with syndromes
Infantile (capillary) haemangiomas
These are the most common with an incidence of one-in-10 babies presenting within the first week of life. They occur more frequently in female and preterm infants. More than 80% of these regress spontaneously with 50% of them resolving by the age of five years, 70% by the age of seven years and 90% by the age of nine years. The remaining patients with haemangiomas may present with bleeding, ulcerations or functional problems if they are sited at around vital organs like the eyes, nose, lips, around the perioral or inside the mouth. They can cause significant deformation and disfigurement to the child and the family may feel desperate asking for help from their primary carers, the health visitors, midwives and the paediatricians involved in the earlier care of their neonates. For the haemangiomas that proliferate rapidly causing functional issues, early treatment is mandatory using beta blockers and rarely steroids are added as combination therapy.2 For resolved heamangiomas where remnants of telangiectasia remain, these can be treated using pulsed dye lasers to improve the cosmesis. Smaller capillary haemangiomas less than two centimetres in size and those that are red in colour can be treated using timolol 0. 5% gel, two drops applied twice a day for up to six months. Guidelines for the use of propranolol and timolol gel are available on the Great Ormond Street Hospital website.3
Natural history of capillary haemangiomas:
– Usually not present at birth.
– Appear within first few weeks of life.
– There may be rapid proliferation initially for the first three to six months.
– Maximum growth is usually achieved by six to nine months of age.
– May remain static for up to one year and then slowly regress over the next few years.
– In 70% complete resolution occurs before the age of seven years.
– Residual telangiectasia, fatty fibrous tissue may result in a raised lump, which can persist.
Complications of haemangiomas:
– The most common is bleeding and ulceration.3
– Infection can be troublesome if the skin is broken due to rapid growth.
– Deformation and disfigurement leading to anxiety, psychological problems and coping difficulties.
– Those lesions in the peri orbital areas causing impairment of vision.
– Subglottic haemangiomas causing airway obstruction.
– Those associated with PHACE syndrome may have cardiac anomalies, heart murmurs and major vessel abnormalities, for example, absent carotid artery, aberrant cerebral vessel involvement and sometimes worrisome symptoms associated with this syndrome.
– Haemangiomas on the hands and feet can present with ischaemic arterial supply leading to digital gangrene and rarely leading to loss of function of that digit.
– Deep bluish haemangiomas may take longer to regress.
– Mixed lesions where there is the red superficial and the deep bluish components may pose further complications especially if they are present around the vital organs. The speed for treatment remains paramount for rapidly proliferating lesions.
There are three different types of congenital haemangiomas, all are rare:
1.The rapidly involuting congenital haemangioma (RICH).
2.Partial involuting congenital haemangioma (PICH).
3.Non involuting haemangioma (NICH).
Congenital haemangiomas are usually present at birth. Some are fully grown before the child is born. Involvement of a local haematologist would be beneficial.
This is a rare condition which can be life threatening. The incidence is one-in-50,000 newborns. The haemangiomas appear rapidly as tiny miliary blood filled circular individual lesions on the skin and internally in most cases. Within a few weeks of life the baby can present with congestive cardiac failure and liver failure may succumb to multi organ failure resulting in a fatal outcome. Rapid diagnosis and starting treatment with propranolol and sometimes adding prednisolone as a combination therapy is mandatory. There is rapid proliferating of these tiny lesions and therefore early referral to the secondary or tertiary care should be sought urgently. Ultra sound scan of the abdomen for internal lesions and cardiac review by the cardiologist is highly recommended.
Haemangiomas associated with syndromes
Numerous syndromes have been identified with haemangiomas, although rare the most well described is PHACEs syndrome.
PHACEs syndrome is a rare neurocutaneus congenital disorder characterized by the association of, posterior fossa brain malformations (P), segmental haemangioma (H), arterial (A) and cardiac defects (C), and eye abnormalities (E). Ventral midline defects such as sternal clefting and supra-umbilical raphe can also be associated with this syndrome. The clinical spectrum includes cerebral blood vessel stenosis and ectatic internal carotid artery entering the skull base.
The aggressive proliferation of the facial haemangiomas involving the eyelids, ears, nasal tip, and lips can dramatically interfere with vital functions such as breathing, feeding, hearing, and vision, especially within the first semester of life. For this reason early treatment is often required to prevent life-threatening complications. Large haemangiomas on the head and neck may be associated with cardiovascular abnormalities and have other associations. Any infant who presents with haemangiomas of head and neck should be investigated to exclude cardiovascular and subglottic involvement. It is important to be aware minimal respiratory distress in a neonate with haemangiomas may be an early presenting symptom of proliferating haemangioma in the subglottic region.
VASCULAR MALFORMATIONS (VM)
These are developmental abnormalities of blood vessels which consist of dysplastic, ectatic vessels that tend to persist throughout life. Depending on the types of VM they can grow proportionally with the child’s growth. They can be slow, fast flow or with arterio-venous shunting. They can rarely have complex combined anomalies and some have syndromic associations. For example: Sturge Weber syndrome, Proteus syndrome, Klippel Trenaunay Weber or overgrowth syndromes. Some have predominantly venous component and present as slow flow venous malformations while others may have abnormal lymphatic predominance and present as lymphatic malformations.
The most common vascular malformation is called stork mark or a naevus flammus which is a flat pinkish lesion present on the forehead. One-in-40 babies present with this mark at birth. Usually this stain is of no significance as it disappears by the age of two to four years. If it persists this may need to be treated with the pulsed dye laser. Be aware this lesion may also be associated with syndromes like Down’s syndrome or with other chromosomal abnormalities.
Port wine stains (PWS)
This vascular malformation has an incidence of three per 1,000 births. The colour ranges from pale pink to dark purple and presents as a flat mark or a stain. It is well demarcated as a superficial cutaneous lesion histologically characterised by ectasia of superficial dermal capillaries and clinically by permanent macular erythema. It is present from birth and is often on the face. This type of birthmark becomes darker with age, can thicken and may form progessive nodularities and blebs as the port wine stain matures. These may cause further disfigurement. Pulse dye lasers are the mainstay of treatment for port wine stains.3 At our hospital we start treatments early so by the time the child begins school we would have offered at least four to six treatments having attained maximum clearance. Our results show between 70 to 80% clearance after four to six treatments. Recurrence of port wine stain can occur in up to 10 to 40% depending on the laser systems used and parameters applied in order to achieve maximum outcome. Newer lasers like multiplex systems using two lasers sequentially can work well to improve recalcitrant or stubborn port wine stains.
Port wine stains can be associated with other medical problems
A port wine stain around the peri orbital or around the eye may cause ophthalmological involvement leading to ocular problems especially glaucoma. It is highly recommended to get an ophthalmology opinion as soon as the child is first seen in the clinic. Follow up and treatment of glaucoma and choroidal angioma or retinal problems is usually taken care of by the ophthalmology team.
Sturge Weber Syndrome (SWS)
This is an association of facial port wine stain present on the forehead extending to the scalp causing angiomatosis and calcification of the lepto meninges over the cortex. The patient may present with convulsions, or hemiplegia/hemiparesis on the opposite side of the port wine stain. There can be presence of developmental delay and mental retardation. All children with unilateral or bilateral port wine stains on the face involving the first trigeminal distribution and the upper eyelid should have an MRI scan with gadolinium enhancement as a base line soon after the child presents to the clinic. This is to exclude central nervous system involvement. Early involvement of the multi-disciplinary team should be considered if SWS is suspected. Guanine Nucleotide Binding Protein gene defect has been recently found to be the cause this syndrome.
Facial PWS on the lips can cause significant hypertrophy leading to unsightly and disfiguring enlargement of the lips. Early referral to the plastic surgeon is recommended for debulking procedure.
Klippel Trenaunay syndrome
An extensive Port Wine Stain capillary malformation on the limbs may cause excessive growth of the soft tissue and bony hypertrophy causing an overgrowth syndrome of that limb. This can become significantly enlarged and can be associated with severe varicosities, thrombotic episodes, thrombophlebitis with venous stasis. These children need a multi-disciplinary approach with orthopaedic team, vascular surgeon and anyone else that may need to be involved in their care.
This was first described by Weidamann et al in 1983 as a congenital condition which comprises of a number of abnormalities present from birth although some will become apparent as the child gets older. There is overgrowth and enlargement of soft tissue and bone affecting the involved limb. Most often it involves hands and feet. Other parts of the body can also be involved and present with large lipomatous lesions, capillary malformation, sebaceous naevus and hamartomas involving the feet. Co-ordinated multidisciplinary team specialists care is necessary for the wellbeing of the child and the family.
Cutis Marmorata Telangiectatica Congenita (CMTC)
This is a rare condition present from birth and characterised by a distinctive reticulate patterning as a livid reticulate mottling of the skin. It involves circumscribed segments of the skin as a marbled appearance usually on the limb but it can be wide spread. CMTC is darker, sharply delineated and segmental and may be associated with other medical problems. CMTC macrocephaly is a rare entity where it is important to monitor the head circumference of the child and refer on to the specialist centre for further review and management.
Venous and lymphatic malformations are uncommon. For more information on their management refer to the Great Ormond Street Hospital website.3
Vascular birthmarks are common in children. It is important to differentiate haemangiomas from port wine stains and from other vascular malformations. Most haemangiomas do not require treatment; however the 20% that require treatment should be treated earlier rather than later. For difficult and challenging haemangiomas expert opinion should be considered. Families should have access to information from their health professionals and from the up-to-date websites. A multi-disciplinary approach is mandatory for the complex vascular birthmarks. For port wine stains psychological, social support and advice on camouflage should be available to help deal with the problems of visual difference and the issues of disfigurement.
1. Wassef M, Blei F, Adams D et al. Vascular Anomalies Classification: Recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics; published online June 8, 2015; doi: 10.1542/peds.2014-3673
2. Maria G, Solman L, Harper J, Syed S B. Propranolol/prednisolone combination for segmental haemangioma treatment in PHACE syndrome. Br J Dermatol 2015. Jan 7.
3. Great Ormond Street Hospital. www.gosh.nhs.uk (accessed 23 June 2015)
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