Introduction

Definition of macroglossia

The medical condition, macroglossia, means having a large tongue.

Having a large tongue can cause problems like speech problems, breathing difficulties and stomatognathic (all muscles, glands, tissues and bones involved in the chewing and swallowing process) problems.It can lead to diastema (spaces between teeth), an increase in the size of the mandible (the lower jaw) and some orthodontic issues like crowded teeth, protruding teeth and abnormal bite.

There is also a condition called pseudo macroglossia, which is a condition where the tongue is not large, but it looks large in relation to the surrounding structures in the oral cavity.¹

 Definition of haemangioma

A haemangioma is a type of a tumour where the endothelial cells (the cells responsible for making the lining of the blood vessels like arteries, veins, capillaries, etc.) increase in number very fast during the early life of an infant. These tumours tend to decrease in size later in life and eventually disappear.

Haemangiomas are the most common type of tumour found during the early life of an infant. Haemangiomas are more common in white people than black people. Haemangiomas are seen more commonly in females than males. They are often found in the head and neck region. They are usually found in soft tissues like skin, mucosa or muscles and, in very rare cases, are found inside bone. Haemangiomas usually appear after birth during the first year of an infant’s life and can persist until they are 12 years old.²

Etiology

Causes of macroglossia

Macroglossia (enlarged tongue condition) has a number of causes and is classified accordingly. Macroglossia can be either:

• Congenital (exists at birth)
• Acquired (appears later in life )

Macroglossia can be: 

• True macroglossia - the tongue is enlarged because of a disease or a syndrome
• Relative macroglossia - the tongue is slightly bigger in relation to the surrounding oral cavity
• Functional macroglossia - when a patient has a surgery that results in a decrease in the size of the oral cavity and the tongue cannot adapt to the new size of the oral cavity

Congenital causes

There are several congenital causes that can lead to an enlarged tongue, such as:

• Muscular hypertrophy: The tongue is a muscle, so when there is hypertrophy (an abnormal increase in the size of cells), this leads to an enlarged tongue
• Idiopathic: The tongue is enlarged due to an unidentifiable cause
• Adenoid hyperplasia: Abnormal increase in the size of the adenoids (lymphoid tissue mass at the back of the nose)
• Haemangioma: A type of tumour which occurs due to the abnormal, rapid increase in the number of endothelial cells and can occur in the tongue
• Lymphangioma: A bump filled with fluid due to the abnormal development of the lymphatic vessels
• Down syndrome: A syndrome where people have an extra somatic chromosome and suffer from a group of systemic diseases
• Beckwith Wiedemann syndrome: A syndrome where a person suffers from a disorder in growth since birth, where the individual has a large body size, a large tongue and low blood sugar
• Hurler syndrome: A condition where a child lacks an enzyme that is responsible for sugar digestion, leading to the accumulation of sugar in the body, damaging the brain, the heart and other organs
• Maroteux-Lamy syndrome: A condition where a patient suffers from abnormal enlargement of the organs and some body parts
• Crouzon syndrome: A condition where the skull bones in a baby, which normally aren't fused, are fused together, causing both skull and facial abnormalities.
• Hypertelorism: A condition where the distance between body parts increases, such as an increase in distance between the eyes
• Becker and Duchenne dystrophies: A type of dystrophy where the child suffers from weakness and damage to their muscles
• Pompe’s disease: A condition where the body cannot break down glycogen, leading to the accumulation of glycogen in the body’s cells, impacting organ and tissue (particularly muscle) function 

Acquired causes

There are several acquired causes which can be classified into metabolic, inflammatory, allergic reaction and other causes.

Metabolic disorders 

• Hypothyroidism: A condition where the thyroid gland, found in the neck, doesn't produce enough thyroid hormone to meet the the body needs
• Cretinism (congenital hypothyroidism): A condition where there are severe mental and physical developmental issues due to iodine deficiency and thyroid hormone deficiency
• Diabetes mellitus: A condition where the body cannot absorb sugar either because the body can't produce enough insulin or produces ineffective insulin 
• Acromegaly: A condition arising due to an increase in the amount of growth hormone produced, causing bones, organs and other tissues to increase in size

Inflammatory conditions

• Pneumonia: An infection that affects the respiratory system and the lungs
• Glossitis: A disease where the tongue is inflamed and swollen
• Tuberculosis: Tuberculosis is a disease caused by a type of bacteria that affects the respiratory system 
• Head and neck infections

Other causes

• Allergic reactions 
• Neurofibromatosis 
• Polymyositis 
• Venous congestion (pooling of blood potentially leading to swelling, discolourationa and pan)
• Trauma
• Surgical procedures
• Haemorrhage
• Radiation
• Amyloidosis

Pathophysiology

Mechanism of haemangioma development

Vascular abnormalities in skin (cutaneous vascular abnormalities) are considered congenital disorders, where there is abnormal vascular growth. Cutaneous vascular abnormalities are classified according to the pathogenesis (the way the tumour develops) and the tumour behaviour.

Vascular malformations or anomalies are defects or abnormalities in the blood vessels (e.g., the arteries, veins and capillaries). Sometimes it includes lymphatic vessels. A haemangioma is considered a vascular tumour when there is abnormal growth and proliferation in the blood vessels. Infantile hemangioma, the most common type of haemangioma, usually grows and proliferates, then is followed by a regression phase. If the haemangioma doesn't regress, it may cause infections or ulcerations.³

Impact of enlarged tongue due to haemangioma on oral and systemic health

Haemangiomas are rarely found in the oral cavity. Haemangiomas can be found in the tongue, buccal mucosa and lips. The danger of having a haemangioma in the oral cavity is that they are prone frequent trauma, which leads to bleeding. This can compromise the breathing process and the airway.

Haemangiomas in the oral cavity can be superficial or deep. Sometimes it can be mixed.

Superficial haemangiomas usually present as papules or lobulated nodules and can be red in colour, while deep haemangiomas are usually blue and have veins overlying them. 

Complications

Breathing issues

When a haemangioma occurs in the tongue, it causes macroglossia, which can block the nasopharynx, leading to obstruction of the airway. A person with macroglossia is more prone to airway obstruction if he is lying down.

Difficulty in swallowing

Macroglossia affects swallowing sometimes.

Aesthetic concerns

An enlarged tongue can cause the mandible (lower jaw) to protrude, causing problems in occlusion (closing the mouth) or mastication (chewing). One’s appearance may also affect one's appearance. Macroglossia can cause the teeth to protrude or cause general spacing between the teeth.

Functional impairments

The mastication (chewing) process can become painful, causing pain in the temporomandibular muscle, which can cause a headache.

Difficulty in speaking

An enlarged tongue can cause problems in speaking and pronouncing sounds correctly.

Impact on quality of life

Overall, a patient suffering from macroglossia suffers in almost every aspect of life, starting from basic needs like breathing, swallowing, chewing and speaking to aesthetic problems.

Management and treatment

Treatment of macroglossia depends on the underlying cause. It also depends on whether the macroglossia is true or relative. Treatment can be done through surgery, medication, orthodontic treatment or radiation.

Regarding haemangiomas, they are usually benign and regress on their own, but this is not the case, then treatment options include:

• Surgical excision of the tumour
• Laser treatment
• Combined treatment with corticosteroids

Summary

Macroglossia is an enlarged tongue. It is considered true when the tongue is actually big or relative when the tongue is large in comparison to the surrounding structures in the oral cavity. A haemangioma is an abnormal growth in the endothelial cells responsible for the lining of blood vessels. The most common type of haemangioma is infantile haemangioma. It usually appears in newborns and regresses over time. Haemangiomas can exist in skin, mucosa or muscle. If a haemangioma appears on the tongue, it can cause an increase in the size of the tongue, leading to macroglossia. An enlarged tongue can affect the quality of one's life. It affects speech, breathing, swallowing, chewing and the appearance of the individual affected. The management of macroglossia mainly depends on the treatment of the underlying cause.