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9.17.3 Niemann- Pick Disease
Niemann- Pick disease is another rare group of progressive genetic lysosomal storage disorders. It is
a consequence of abnormal accumulation of sphingomyelin secondary to sphingomyelinase deficiency. Similar to Gaucher disease, Niemann- Pick disease comprises three types: A, B and C, with
mutation of NPC- 1 and NPC- 2 genes in an autosomal recessive manner in type C (104). These
abnormally functioning enzymes owed to impaired cholesterol transport leading to accumulation
in brain cells and other tissues. They present with clinically distinguishable features with developmental delay, visceral changes such as pulmonary disorders or failure, hepatosplenomegaly, dementia, psychiatric symptoms, cognitive impairment, muscle spasticity with difficulty swallowing, and
an increased tendency to bleed. History, clinical examination, serum biomarkers and genetic analysis of the NPC- 1 and NPC- 2 genes help in early diagnosis and potential clinical intervention(105).
9.17.4 Tay- Sachs Disease
Tay- Sachs disease is characterised by the abnormal deposition of ganglioside in the neuronal lysosomes due to the deficiency of beta- hexosaminidase. It is known for its advanced neuronal deterioration, seizures, blindness and developmental deficit in infancy due to genetics in an autosomal
recessive manner. Genetic counselling, early diagnosis and multidisciplinary care help with the
complications. There is no cure, and they have poor prognosis and may result in a fatal scenario
with less than five years of life expectancy(106, 107).
121
9.18 Disorders ofMicronutrients andTheir
Oro- facial Manifestations
9.18.1 Iron
Iron is one of the crucial micronutrients essential for producing haemoglobin, deoxyribonucleic
acid and metabolic processes that help in growth and development(108). Iron regulation depends
on the production of red blood cells (RBCs) from the bone marrow, dietary intake, transport by
transferrin, storage as ferritin, absorption, physiologic amounts of excretion and recycling(109).
Iron deficiency may disrupt iron metabolism because iron can form free radicals and cause tissue
damage. Diseases that encompass inadequate iron or overload may range from anaemia to hemochromatosis, resulting in possible neurodegenerative disorders(110).
The most common and frequent cause of anaemia is iron deficiency anaemia. Iron deficiency
anaemia may occur due to malabsorption of iron, reduced intake, chronic inflammation, blood
loss due to menstruation, pregnancy, renal disease, intestinal polyposis, peptic, duodenal ulcers,
internal bleeding and malignancy(111). Patients with iron deficiency anaemia present with pale
skin, cold feet and hands, fatigue or loss of energy, dizziness, dyspnea, tachycardia, palpitations,
koilonychia (brittle spoon- shaped nails), myalgia or muscle weakness. Oral manifestations include
pale oral mucosa, glossitis, glossodynia, angular cheilitis, recurrent aphthous stomatitis and
burning mouth or oral mucosa(112).
Some tests to identify an iron deficiency include complete blood count, peripheral blood smear,
serum iron, haemoglobin count, hematocrit, total iron binding capacity, ferritin, endoscopy,
colonoscopy and additional imaging. The treatment choices have been to rule out malignancy,
diagnose underlying medical conditions, dietary modification, and iron supplementation with
vitamin C, iron or blood infusion(113).
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9.18.2 Plummer- Vinson Syndrome
Plummer- Vinson syndrome (PVS) is a collection of disorders comprising iron deficiency anaemia,
dysphagia, glossitis and oesophagal web(114). Dysphagia is the central feature of PVS, and other
clinical features and oral manifestations overlap with iron deficiency anaemia(115). Increased
prevalence is seen in postmenopausal women. PVS bears an increased risk for squamous cell
carcinoma; hence, early diagnosis is the key to timely treatment. Management is similar to
iron deficiency anaemia with iron supplements and administering parenteral iron. Mechanical
dilation via endoscopy can resolve oesophagal strictures(116). Prompt biopsy would reveal
dysplasia or malignancy diagnosis. A periodic follow- up is encouraged with a definitive diagnosis
of PVS(117).
9.19 Vitamins
Micronutrients and vitamins are synthesised endogenously in minimal amounts required for normal
growth and development. Vitamin deficiency is observed in low and middle- income countries,
leading to devastating complications. Vitamins are categorised based on water and fat- soluble
absorption. The water- soluble vitamin B complex and C are essential for the appropriate function
of blood cells, vessels and nerves(118). The fat- soluble vitamins include A, D, E and K, which are
necessary for vision, immune function, bone regulation and hemostasis(119).
9.19.1 Vitamin A
Vitamin A or retinol is essential for tissue growth, differentiation and regulation of vision. Vitamin
A sources include meat, eggs and certain vegetables. Deficiency of vitamin A results in initial ocular changes, ranging from lack of vision adaptation to blindness in severe cases.
9.19.2 Vitamin B Complex
Vitamin B complex deficiency is uncommon in North America; however, patients with malabsorption, alcohol disorder and vegetarian or vegan dietary practices may encounter such
inadequacies. The vitamin that encompasses vitamin complex are B1 (thiamine), B2 (riboflavin),
B3 (niacin), B5 (pantothenic acid), B6 (pyridoxine), B7 (biotin), B9 (folate) and cyanocobalamin (B12).
9.19.3 Thiamine (Vitamin B1)
Thiamine is vital as a coenzyme in glucose metabolism to produce adenosine triphosphate (ATP).
A deficiency of thiamine leads to a condition called beriberi, commonly found in patients with
malnutrition, consuming polished rice, who underwent gastric bypass surgery and alcoholics.
Clinical manifestations include cardiovascular disease with dyspnea, oedema and heart failure,
neurological symptoms with neuropathy, polyneuritis and muscle wasting. Wernicke encephalopathy due to destruction of the thalamus, a prominent condition with a triad of delirium, ophthalmoplegia, and ataxia, ultimately resulting in dementia, coma and death.
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9.19 Vitamins
9.19.4 Riboflavin (Vitamin B2)
Riboflavin is a coenzyme that plays a major role in cellular function, energy synthesis, growth, development, and metabolism of lipids, steroids and certain medications. Riboflavin deficiency manifests
as skin, endocrine, reproductive, and neurological disorders and noticeable oral changes include
edematous, atrophied oral mucosa, glossitis, angular cheilitis and recurrent aphthous stomatitis.
9.19.5 Niacin (Vitamin B3)
Niacin is also a coenzyme that plays a significant role in DNA production, repair, antioxidation
and production of ATP. Inadequate vitamin B3leads to a state called pellagra, popularly known
as a 3D or 4D presentation with dermatitis, diarrhoea, dementia and, in severe cases, death.
These patients may also manifest with glossitis, erythematous, raw- looking tongue and atrophy
of the oral mucosa.
9.19.6 Pantothenic acid (Vitamin B5)
Pantothenic acid is an element of coenzyme A, which helps achieve metabolic functions, formation
of hormones and lipid metabolism. Deficiency may result in alopecia, dermatitis, AI and enteritis.
9.19.7 Pyridoxine (Vitamin B6)
123
Pyridoxine forms RBSCs, transamination, glycogen, protein and lipid metabolism. Sideroblastic
anaemia, seizures, convulsions, peripheral neuropathy, confusion and weakness are some of the
indicators of pyridoxine deficiency. Glossitis and cheilitis are common oral features of vitamin B
complex insufficiency.
9.19.8 Biotin (Vitamin B7)
Biotin is required for carbohydrate, protein and lipid metabolism. Since biotin is a significant provider of keratin, it improves skin quality, nails and hair. Deficiency of biotin owes to cardiovascular
disorders, anaemia, depression, myalgia and poor quality of hair, skin and nails.
9.19.9 Folate (Vitamin B9)
Folate is significant in forming DNA, RNA and protein metabolism. Additionally, its supplements
aid in producing healthy RBCs crucial for appropriate foetal growth during pregnancy. Avoiding
alcohol use and diligent folate supplementation during pregnancy prevents neural tube defects
and megaloblastic anaemia.
9.19.10 Cobalamin (Vitamin B12)
Cobalamin is necessary to function and support the nervous system and erythropoiesis. It integrates with intrinsic factors in the intestine for fortified absorption. Vitamin B12 is naturally
found in animal foods; vegetarians may invariably have a deficiency. Along with evident autoimmune destruction of intrinsic factors, administration of certain medications and intestinal surgery
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make cobalamin absorption challenging. Its clinical presentation is apparent with neurological
symptoms and pernicious anaemia. Oral symptoms and signs include erythematous, atrophic
oral mucosa with burning, tingling sensation with paresthesia or numbness. Schilling test demonstrates deficiency of cobalamin. Furthermore, antibodies to intrinsic factors exclusive for pernicious anaemia and increased serum levels of methylmalonic acid and homocysteine protein
byproducts capture cobalamin activity.
9.19.11 Vitamin C
Vitamin C is a distinct antioxidant that prevents the formation of free radicals. It is required for
collagen growth, bone formation, blood vessels and nervous tissues and for boosting the immune
system. Vitamin C deficiency is termed scurvy, leading to delayed wound healing, petechiae,
ecchymosis and haemorrhage. Oral manifestations include widespread gingivitis, ulceration and
periodontal infection.
9.19.12 Vitamin D
Besides calcitonin and parathyroid hormone, vitamin D regulates the skeletal system. Dietary
inadequacy and deprivation from sunlight may negatively influence a person’s oral health. A
deficiency of vitamin D in children results in rickets, and adults develop osteomalacia. Clinical
presentation includes growth deficiency, bowlegs and defective mineralisation leading to
enamel hypoplasia. Similarly, a fragile bone in osteomalacia may present with diffuse bone
pain and frequent pathological fracture due to disrupted bone remodelling, poor calcification
and osteoid formation. Radiographic examination reveals sparse trabeculae and thinning of
lamina dura and cortex. Vitamin D supplementation has been the first treatment choice for
rickets and osteomalacia.
Vitamin D- resistant or hypophosphatemic rickets are typically caused secondary to inherited
disorders, renal failure or multiple myeloma(120). Inability to resorb phosphorus, decreased
serum levels of phosphorus and low calcium and bone density leads to retarded growth and
bony changes(121). Patients may manifest with osteopenic mandible with a granular bone pattern, thin enamel, large pulp, frequent periapical infections, pulpal necrosis and premature
tooth loss(122).
9.19.13 Vitamin E
Tocopherol, or vitamin E, is a fat- soluble and effective antioxidant. Deficiency or malabsorption of
vitamin E is less common, resulting in retinopathy, decreased immune function, peripheral neuropathy and ataxia. Dietary sources and vitamin supplements can be provided, although there is an
increased risk of bleeding.
9.19.14 Vitamin K
Vitamin K is needed for the production of clotting factors. Vitamin K deficiency is seen in malabsorption and patients with prolonged antibiotic use. Ineffective production of vitamin K results in
coagulopathy due to defective clotting factors, gingival and systemic haemorrhage.
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References
9.20 Inborn Errors ofMetabolism andTheir Oro- facial Manifestations
9.21 Hypophosphatasia
Hypophosphatasia is an uncommon inherited metabolic disorder caused by a gene mutation in an
autosomal recessive or dominant inheritance. It is characterised by a deficiency of non- descript
alkaline phosphatase, which helps in osteoblastic and odontoblastic production. There are six
forms of hypophosphatasia depending on the age of diagnosis: perinatal benign, lethal, infantile,
childhood, adult and odontohypophosphatasia(123). Infants may exhibit disruptive skull ossification, bowed legs, bone pain and defective bone growth similar to rickets(124). Delayed tooth eruption, thin hypoplastic enamel, large pulp chamber and root canal and thin cortices may represent
clinical and radiographic features. There is no therapy for hypophosphatasia; enzyme replacement
has shown some benefits(125).
9.22 Summary
A complex biofeedback mechanism with neuro- hypothalamic signalling reaches the target organs
for diverse biological functioning. Any impairment in the feedback mechanism or their signalling
negatively impacts development and quality of life. Anatomical, physiological and pathological
aspects, including oro- facial manifestations of endocrine and metabolic disorders, are discussed in
this chapter.
125
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