Endgames Picture Quiz

A 3 month old infant with a “strawberry” red mass on her nose

BMJ 2014; 348 doi: https://doi.org/10.1136/bmj.g3810 (Published 12 June 2014) Cite this as: BMJ 2014;348:g3810
  1. E Charles, medical student1,
  2. C Milroy, consultant paediatric plastic surgeon2,
  3. N K Goldstraw, consultant paediatric dermatologist3,
  4. S Giuliani, consultant paediatric surgeon and senior lecturer1
  1. 1Department of Paediatric and Neonatal Surgery, St George’s Healthcare NHS Trust and University of London, London SW17 0QT, UK
  2. 2Department of Paediatric Plastic Surgery, St George’s Healthcare NHS Trust and University of London, London, UK
  3. 3Department of Paediatric Dermatology, St George’s Healthcare NHS Trust and University of London, London, UK
  1. Correspondence to: S Giuliani stefano.giuliani{at}nhs.net

A 3 month old infant presented to the general practitioner with a “strawberry” red, lobulated, and compressible mass on the tip of her nose (figure). Her nasal cartilage and internal nose did not seem to be affected. The lesion had first been noticed six weeks earlier as a small red spot but had grown quickly and now covered her entire nose. She was otherwise well and had no signs of bleeding or ulceration. The parents were extremely worried and wanted urgent treatment for this lesion.

Questions

  • 1. What is the diagnosis and what is the correct definition of this condition?

  • 2. What other differential diagnoses should be covered in this patient?

  • 3. Should this patient be referred to a tertiary paediatric centre and, if so, why?

  • 4. How would you counsel the parents at the first clinical appointment?

Answers

1. What is the diagnosis and what is the correct definition of this condition?

Short answer

The correct diagnosis for this lesion is infantile haemangioma of the nose in its proliferative phase.

Long answer

Previous terms for this type of lesion include strawberry haemangioma, strawberry naevus, and capillary haemangioma; however, these terms should no longer be used in medical practice. The International Society for the Study of Vascular Anomalies (ISSVA) classification system was issued in 1996 with the aim of establishing a common nomenclature, and it is currently the only system to be widely accepted across the different specialties involved.1 This classification system refers to the original description by Mulliken and Glowacki in 1982 and is based on endothelial characteristics and clinical behaviour.2 It divides vascular anomalies into two main categories: vascular tumours and vascular malformations.3 4

Infantile haemangioma is the most common vascular tumour of infancy, being found in about 5% of infants.5 The incidence is highest in female and premature infants.6 Unlike congenital vascular malformations, this benign lesion is typically not present at birth but appears in the first few weeks of life as a small red macule. All haemangiomas then follow a three phase growth pattern of proliferation, involution, and resolution, during which they typically proliferate rapidly for a period of three to six months and then involute spontaneously, with 90% completely disappearing by 9 years of age.7 Lesions are highly variable in character and may have a classically “strawberry” red, smooth, lobulated appearance (superficial haemangiomas) or may present as compressible elastic masses of normal coloured or bluish skin (deep haemangiomas).8

This infant’s lesion was not present at birth. It first appeared at 6 weeks of age and then grew quickly. On examination a superficial haemangioma with no obvious invasion of the cartilage or internal nose was found. Both history and examination were consistent with the diagnosis of infantile haemangioma. More specifically, an infantile haemangioma covering the tip of the nose is referred to as a “Cyrano nose.” No further investigation is needed to confirm the diagnosis.

2. What other differential diagnoses should be considered in this patient?

Short answer

The appearance and history of this lesion are typical of infantile haemangioma, so other diagnoses are unlikely in this patient. However, important differential diagnoses for this lesion include congenital haemangioma—either RICH (rapidly involuting congenital haemangioma) or NICH (non-involuting congenital haemangioma)—and capillary vascular malformation.

Long answer

Congenital haemangiomas are rare benign vascular tumours.9 These tumours are fully grown at birth and, unlike infantile haemangioma, do not show proliferative growth postnatally. There are two major subtypes of tumour: rapidly involuting congenital haemangioma (RICH) and non-involuting congenital haemangioma (NICH).10

RICH lesions usually appear as raised red-purple or greyish tumours covered with multiple telangiectasia, sometimes with a pale halo around the rim of the tumour.11 In most cases, these lesions will begin to involute in the first few weeks of life and will have involuted completely by 14 months. Treatment is not usually needed for these lesions.

NICH lesions are less common than RICH lesions and they tend to be pink-purple and plaquelike, with prominent telangiectasia on the surface.12 These lesions do not actively proliferate, but grow in proportion with the child, and they never involute spontaneously. Some may need laser treatment or surgery at a later stage.

Capillary vascular malformations, previously known as “port wine stains,” are slow flow congenital malformations of the superficial capillaries that are seen in around 0.3% of live births.13 These vascular malformations are present at birth as dark pink-purple patches, usually on the face or neck, which grow in proportion to the patient.14 The lesion may darken and thicken with age but there is no rapid proliferation or spontaneous involution. Laser treatment or surgery may be needed.

3. Should this patient be referred to a tertiary paediatric centre and, if so, why?

Short answer

Yes. Any lesion that is life threatening or carries a risk of long term functional impairment, serious deformity, or underlying abnormality should be urgently referred to a paediatric vascular anomalies team. This lesion presents a risk of long term scarring and deformity in an aesthetically important area so requires urgent referral and intervention. Ideally, this lesion should have been treated at an earlier stage so urgent referral is essential. Further growth could result in obstruction of internal nasal structures with a risk of respiratory distress and permanent damage to the external nasal structures.

Long answer

Although most infantile haemangiomas are self limiting, a minority can cause serious morbidity and, rarely, death. Early referral is essential if drug treatment, offered during the proliferative phase, is to be considered; any delay may result in this window of opportunity for treatment being missed. Some lesions may also be part of a larger syndrome or disease process. The box summarises the indications for referral to a tertiary paediatric vascular anomalies team.

Indications for immediate referral to a tertiary paediatric vascular anomalies team

Life or function threatening
  • Periorificial location (eyes, nose, mouth, perineum, or genitalia)

  • Beard or mandibular lesion (risk of airway compromise)

  • Parotid area

  • Breast area

  • Extremely large lesions (>15 cm), especially in a visible area

Risk of underlying abnormality
  • Multifocal (≥5) lesions (risk of hepatic haemangiomatosis)

  • Large segmental lesions of the face and neck (associated with PHACES* syndrome)

  • Lumbosacral lesions (spinal dysraphism or structural anomalies)

  • *PHACES: Posterior fossa abnormalities, facial segmental Haemangioma, Arterial abnormalities, Cardiac and aortic defects, Eye anomalies, and Sternal agenesia or supraumbilical raphe.

Periorificial lesions located near the eyes, nose, mouth, or perineum carry a higher risk of function threatening complications:

  • Periocular lesions may compress visual structures and lead to permanent amblyopia, strabismus, and astigmatism. Lesions around the ear carry a risk of foreclosure, infection, and hearing loss

  • Because infants are obligate nasal breathers for the first 6-12 months of life, large nasal lesions may cause obstruction and respiratory distress. Furthermore, long term deformity or scarring of the nose can have a serious aesthetic impact and is often difficult to correct at a later stage

  • Lesions around the mouth or parotid and perineal lesions have an increased risk of ulceration and long term structural damage

  • Mandibular and beard haemangiomas are associated with underlying airway lesions and a risk of airway compromise; they may need to be assessed in the ear, nose, and throat department with laryngoscopy and bronchoscopy.15

In girls, lesions in the breast area may lead to impaired development of the mammary glands and result in long term functional, aesthetic, and psychological impairments.

Very large infantile haemangiomas may cause permanent damage to the skin, leaving a fibrofatty scar on resolution. This may have a serious psychological impact on the child, particularly when the lesion is on a prominent part of the body such as the face, hand, or forearm. The effect of this potential disfigurement is a key consideration in deciding whether or not to refer. If lesions do not regress fully, laser treatment may be considered to aid the resolution process.

Multiple lesions may indicate underlying diffuse neonatal haemangiomatosis.16 This rare, and potentially life threatening, condition is characterised by multiple superficial cherry red spots and visceral involvement (at least two organs affected), with an associated risk of high output cardiac failure secondary to arteriovenous shunting.17 Patients presenting with five or more cutaneous lesions should undergo ultrasonography of the liver to screen for diffuse haemangiomatosis.

Haemangiomas overlying the spine may be associated with an occult spinal dysraphism.18 Ultrasound is an effective screening tool for spinal disease; however, magnetic resonance imaging is needed when the central nervous system is affected.

Large segmental infantile haemangioma of the face may indicate underlying PHACES syndrome (Posterior fossa abnormalities, facial segmental Haemangioma, Arterial abnormalities, Cardiac and aortic defects, Eye anomalies, and Sternal agenesia or supraumbilical raphe).19 Additional radiological investigations are needed in patients who are thought to have this condition, including magnetic resonance imaging of the head and neck, echocardiography, and ophthalmological examination. Similarly, LUMBAR syndrome is associated with large segmental infantile haemangioma of the perineum and lower extremities. It is characterised by lower body haemangioma, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies.20 Patients with large segmental lesions in this area will therefore also require pelvic magnetic resonance imaging.

4. How would you counsel the parents at this first clinical appointment?

Short answer

You should clearly explain the diagnosis and natural course of infantile haemangioma, advise parents on the potential complications, explain your decision to refer, and outline possible treatment at the tertiary service.

Long answer

Explain that both history and examination confirm a diagnosis of infantile haemangioma. You should emphasise that this is a common benign condition with no hereditary transmission, and that most lesions resolve spontaneously and do not need further investigations or treatment. A brief overview of this condition’s triphasic growth pattern and likely time course will also help to reassure parents that the rapid growth rate is to be expected and will resolve with time.

Possible complications include ulceration and bleeding. Ulceration is the most common complication and it occurs more often in rapidly proliferating lesions, particularly in sites of moisture and friction.21 Bleeding is also a common complication of infantile haemangioma. If this happens parents should apply a clean gauze or towel and compress continuously for at least 10 minutes. In the long term there may be some minor residual skin changes such as telangiectasias, atrophic wrinkling, lax skin, fibrofatty changes, and scarring, especially if there has been ulceration. Furthermore, any bleeding or ulceration of the area could lead to infection and long term disfigurement. Patients should therefore be urgently referred to a tertiary team for early treatment, short term monitoring of functional complications, and long term follow-up to ensure that any disfigurement is minimised.

Explain to the parents that their child will be treated by a multidisciplinary team of plastic surgeons; dermatologists; paediatric surgeons; and ear, nose, and throat specialists. After assessment, drug treatment will be offered; prompt initiation of propranolol during the tumour’s proliferative phase effectively inhibits growth and promotes regression. It is therefore essential that the child is urgently referred while the lesion is early in its proliferative phase if drug treatment is to be considered. The drug is usually taken as an oral liquid three times daily (total dosage 2 mg/kg/day) for three to 12 months.22 Reported side effects include sleep disturbance, lethargy, gastrointestinal upset, hypoglycaemia, hypotension, bradycardia, and bronchospasm.23 Pulse dye laser (585-595 nm) treatment is indicated for airway haemangiomas and ulcerating lesions that have not responded to systemic therapeutic measures, and in patients with long term skin changes such as telangiectasias.23 24

Patient outcome

The infant was referred to a tertiary centre where treatment with propranolol during the proliferative phase was offered. However, the parents decided to opt for a conservative approach and await spontaneous resolution of the lesion. The haemangioma is currently in its involution phase and has remained uncomplicated. Regular follow-up has been arranged.

Notes

Cite this as: BMJ 2014;348:g3810

Footnotes

  • Competing interests: We have read and understood BMJ policy on declaration of interests and declare the following interests: None.

  • Provenance and peer review: Not commissioned; externally peer reviewed.

  • Parental consent obtained.

References

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