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Turner’s Syndrome 

Hyperkeratosis Back of Arm. GFW Photo.
Hyperkeratosis Back of Arm. GFW Photo

What Is Follicular Hyperkeratosis?

[dropcap]F ollicular hyperkeratosis is an abnormal skin condition characterized by disordered overgrowth of the horny layer of the epidermis with horny plugs filling the openings of hair follicles. The plugs look like bumps in hair follicles.

Follicular hyperkeratosis with corkscrew hairs (coiled hairs in the follicles) appears in scurvy, which is advanced vitamin C deficiency.1

Typical  hyperkeratotic papules first appear on the extensor surfaces of the extremities (e.g. the back of upper arms), shoulders, and buttocks.

Phrynoderma is a distinctive form of follicular hyperkeratosis with papule formation in dilated hair follicles believed to be a manifestation of severe malnutrition.

Q: Why does hyperkeratosis develop?

A: Follicular hyperkeratosis develops from lack of necessary nutrients to support healthy skin. Although originally thought to represent only vitamin A deficiency or vitamin C in the case of scurvy, several studies have demonstrated deficiencies of B vitamins and vitamin E. General malnutrition seems to be the strongest association. The clinical picture typically improves with enhanced nutritional status.2

What Is Follicular Hyperkeratosis In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Krause’s Food, Nutrition, & Diet Therapy. 10th Edition. Kathleen Mahan, Sylvia Escott-Stump. 2000. W.B. Saunders Company. [↩]
  2. Maronn M, Allen DM, Esterly NB. Phrynoderma: a manifestation of vitamin A deficiency?… The rest of the story. Pediatr Dermatol. 2005 Jan-Feb;22(1):60-3. [↩]

Uveitis, Non-Infectious  

Courtesy Wikipedia.com
Parathyroid Glands in the Neck. Courtesy Wikipedia.com

What Is Secondary Hyperparathyroidism?

[dropcap]S econdary hyperparathyroidism is a parathyroid disorder resulting from hypocalcemia (low blood calcium level) that is characterized by excessive production of parathyroid hormone in the attempt to normalize the low blood calcium by releasing calcium from bone.

Parathyroid hormone is produced by the four pea sized parathyroid glands that are located on the thyroid gland in the front of the neck. In part, because the thyroid and parathyroid glands share the same anatomic place in the body and because they have similar names, they are often confused although they have completely different actions.

Parathyroid hormone regulates calcium and the opposing mineral phosphorus in the blood. In secondary hyperparathyroidism, calcium blood levels are low to normal while phosphorus levels are increased which stimulates the outpouring of parathyroid hormone.

Q: How does secondary hyperparathyroidism differ from primary hyperparathyroidism?

A: In primary hyperparathyroidism blood calcium is high and phosphorus is low, which is the opposite of secondary hyperparathyroidism.

The most common cause of secondary hyperparathyroidism is kidney disease causing failure to reabsorb calcium followed by vitamin D deficiency and malabsorption.

What Is Secondary Hyperparathyroidism In Celiac Disease and/or Gluten Sensitivity?

Xerophthalmia

Parathyroid gland anatomyWhat Is Idiopathic Hypoparathyroidism?

[dropcap]I diopathic hypoparathyroidism is a metabolic condition that results from reduced secretion or impaired action of parathyroid hormone (PTH) which results in a combination of low calcium and elevated phosphorus levels in the body.

Calcium and phosphorus are minerals that act in opposition to each other in the body. Idiopathic means the cause is not known.

Parathyroid hormone is produced by the four pea sized parathyroid glands that are located on the thyroid gland in the front of the neck. Partly because the thyroid and parathyroid glands share the same anatomic place in the body and partly because they have similar names, they are often confused although they have completely different actions.

Q: What does parathyroid hormone do in the body?

A: This vital hormone maintains a correct balance of calcium and phosphorous in the bloodstream and ultimately has an effect on all organs because of the complexity of intracellular calcium physiology.1 

Parathyroid hormone is required to sustain life, therefore undetected or misdiagnosed hypoparathyroidism may pose a significant threat to health outcomes, as its presence may increase disease and mortality in affected individuals.

The clinical consequences of parathyroid hormone deficiency or impaired receptor action involve many body functions. In some patients, however, its manifestation may be non-specific, and in these cases the correct diagnosis may be easily missed.

Digestive manifestations of hypoparathyroidism are few and consist mainly of steatorrhea due to insufficient meal-stimulated cholecystokinin secretion by the duodenal mucosa.2

Laboratory measurements show hypocalcemia (low blood calcium level), hyperphosphatemia (high blood phosphate level), and inappropriately low or undetectable parathyroid hormone levels. Treatment consists of oral calcium supplementation and vitamin D derivatives.3

Idiopathic hypoparathyroidism is rare, although there is a growing incidence of the autoimmune form of hypoparathyroidism, which may occur in combination with other autoimmune diseases such as celiac disease.

What Is Idiopathic Hypoparathyroidism In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Abboud B, Daher R, Boujaoude J. Digestive manifestations of parathyroid disorders. World J Gastroenterol. 2011 Sep 28;17(36):4063-6. doi: 10.3748/wjg.v17.i36.4063. [↩]
  2. Abboud B, Daher R, Boujaoude J. Digestive manifestations of parathyroid disorders. World J Gastroenterol. 2011 Sep 28;17(36):4063-6. doi: 10.3748/wjg.v17.i36.4063. [↩]
  3. Krysiak R, Handzlik-Orlik G, Kedzia A, Machnik G, Okopień B. Hypoparathyroidism: the present state of art. Wiad Lek. 2013;66(1):18-29. [↩]

Psoriasis

niacin deficiencyWhat Is A Fiery Red, Smooth, Burning Tongue?

[dropcap]A fiery red, smooth, burning tongue is an alteration in tongue tissue that is characteristic of advanced niacin deficiency.1

Q: How does niacin deficiency cause the tongue to be red and sore?

A: Niacin is an essential B vitamin that is required for a healthy tongue and by all body cells as well. Deficiency first shows in tissues with rapid cellular turnover, such as mucosal cells of the tongue.

When absorbed from the small intestines, niacin (the form in food) becomes the active form niacinamide. Niacinamide is converted by the body into co-enzymes which are present in all cells. These enzymes function in oxidation-reduction reactions essential for release of energy from carbohydrates, fats, and proteins and are needed as components for more than 200 enzymes involved in metabolism.

In addition to producing energy, niacinamide is essential for healthy skin and the mucosal lining of the digestive tract, normal functioning of the brain and nervous system, and production of steroid hormones from adrenal glands and hormones from sex glands.

What Is A Fiery Red, Smooth, Burning Tongue In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Krause’s Food, Nutrition, & Diet Therapy. 10th Edition. Kathleen Mahan, Sylvia Escott-Stump. 2000. W.B. Saunders Company. [↩]

Smell, Loss of  

CT Scan of Parathyroid Carcinoma Displacing the Trachea. Courtesy Orphanet Journal of Rare Diseases
CT Scan of Parathyroid Carcinoma Displacing the Trachea by Doina Piciu. Courtesy Orphanet Journal of Rare Diseases

What Is Parathyroid Carcinoma?

[dropcap]P arathyroid carcinoma is a slow growing rare malignancy involving overactive parathyroid glands and is characterized by profound hypercalcemia (elevated blood calcium level), parathyroid hormone levels of more than 3 times upper normal limits, and palpable neck mass.1

Parathyroid carcinoma is a cause of severe hyperparathyroidism. Hyperparathyroidism results from overproduction of parathyroid hormone by the parathyroid glands.

Research comparing patients with carcinoma to patients with primary hyperparathyroidism showed that patients with parathyroid carcinoma had significantly higher serum parathyroid hormone and calcium levels compared with patients with primary hyperparathyroidism.2

Q: Why is the blood calcium level elevated?

A: Blood calcium level is elevated due to overproduction of parathyroid hormone by the diseased gland(s).

The function of parathyroid hormone (PTH) is to keep calcium blood levels normal, which it does by drawing calcium out of bones as needed. The problem of too much PTH is that bone is constantly robbed of calcium and this depletion causes bone demineralization, resulting in osteopenia progressing to osteoporosis. Of course, weakened bones are subject to breakage with light trauma.

On the other hand, too much calcium in the blood can cause kidney stone formation because urine production is the way the body excretes excess calcium. That is, highly concentrated calcium precipitates out of the urine solution to form stones.

With an estimated incidence of 0.015 per 100,000 population and an estimated prevalence of .005% in the United States, parathyroid cancer is one of the rarest of all human cancers according to the National Cancer Institute.

What Is Parathyroid Carcinoma In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Schaapveld M, Jorna FH, Aben KK, Haak HR, Plukker JT, Links TP. Incidence and prognosis of parathyroid gland carcinoma: a population-based study in The Netherlandsestimating the preoperative diagnosis. Am J Surg. 2011 Nov;202(5):590-7. doi: 10.1016/j.amjsurg.2010.09.025. Epub 2011 Aug 20. [↩]
  2. Schaapveld M, Jorna FH, Aben KK, Haak HR, Plukker JT, Links TP. Incidence and prognosis of parathyroid gland carcinoma: a population-based study in The Netherlandsestimating the preoperative diagnosis. Am J Surg. 2011 Nov;202(5):590-7. doi: 10.1016/j.amjsurg.2010.09.025. Epub 2011 Aug 20. [↩]

Small Bowel Intussusception

Invagination_Schema[1]What Is Small Bowel Intussusception?

[dropcap]S[/dropcap]mall bowel intussusception is a bowel derangement that is characterized by the slipping of one section of intestine into another, leading to bowel obstruction.

Acute bowel intussusception is a rare manifestation in adults, which mainly involves the small intestine.1

What Is Small Bowel Intussusception In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Grados A, Bernard F, Coquet-Reinier B, Rossi P, Bagneres D, Demoux AL, Marciano S, Frances Y, Granel B. Acute bowel intussusception revealing celiac disease a new case and literature review. Rev Med Interne. 2011 Oct;32(10):628-32. doi: 10.1016/j.revmed.2011.03.334 [↩]

Sucrose Intolerance and Sucrosemia 

Sweet Bon Bons: Courtesy Freepik.
Sugary Bon Bons: Courtesy Freepik.

What Is Sucrose Intolerance And Sucrosemia?

[dropcap]S[/dropcap]ucrose intolerance is the inability to digest sucrose, a widely available sugar, while sucrosemia is the abnormal presence of sucrose in the bloodstream.

Q: Why cannot the body digest sucrose?

A: Sucrose, such as cane or beet sugar, is a double molecule sugar which must first be digested before being absorbed from the gut into the bloodstream. That is, sucrose must be split into its component single molecules of fructose and glucose, which are then properly absorbed.

The inability to properly digest sucrose results directly from low production and activity of sucrase in the small intestine. Sucrase is the specific enzyme that splits or digests sucrose.

Undigested sucrose does not remain idle. Its presence acts osmotically to draw water from the body into the intestine, causing watery diarrhea.

Meanwhile, microbiota (normal bacteria) in the colon eagerly ferment the abnormally present sucrose that arrives from the small intestine. Fermentation generates short-chain fatty acids and hydrogen gas, which results in bloating pain.1

In sucrosemia, sucrose molecules abnormaly pass through an unhealthy small intestinal lining and enter the bloodstream where there presence is abnormal. Sucrose in the blood is filtered out by the kidneys and excreted in urine.

Positive response to a breath hydrogen test (BHT), involving 1 – 3 hours of time post ingestion of sucrose test dose, signifies malabsorption in the small intestine and fermentation in the colon. If BHT is positive before 60 minutes, the result implies bacteria is abnormally present in the small intestine, causing fermentation there. Endoscopy is used to measure sucrase activity in tissue samples.

What Is Sucrose Intolerance And Sucrosemia In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Krause’s Food, Nutrition, & Diet Therapy. 10th Edition. Kathleen Mahan, Sylvia Escott-Stump. 2000. W.B. Saunders Company. [↩]

Vitiligo

Areas of the Pharynx Where Cancer May Occur. Courtesy Wikimedia.
Areas of the Pharynx Where Cancer May Occur. Courtesy Wikimedia.

What Is Cancer Of The Pharynx?

[dropcap]C ancer of the pharynx is a malignant growth of stratified squamous cells that line the pharynx, or throat.

Q: What are stratified squamous cells that line the pharynx?

A: Stratified squamous cells are thin, flat epithelial cells consisting of several layers forming the surface mucosa that protects underlying layers of the pharynx. These cells lie very close together and have no blood vessels.

The pharynx is the upper passageway of the throat where swallowing food and fluids from the mouth first pass on the way to the esophagus and breathing air passes from the nose and mouth to and from the lungs.

The pharynx provides for speech production, adequate taste reception, and proper hearing through equalization of air pressure in the eustachian tubes.

The pharynx has three areas and pharyngeal cancer can occur in any of them: the nasopharynx behind the nose, the oropharynx behind the mouth, and the hypopharynx or laryngopharynx, just above the larynx. Tonsils, adenoids, and other lymph tissue lie at the back of the throat.

Unfortunately, cancers of the pharynx tend not to be detected until late in their course when symptoms become evident. This makes the prognosis poor. See symptom below.

What Is Cancer Of The Pharynx In Celiac Disease and/or Gluten Sensitivity?

Tetany

VomitingWhat Is Vomiting?

[dropcap]V omiting is the regurgitation of swallowed food back out of the mouth.

What Is Vomiting In Celiac Disease and/or Gluten Sensitivity?

Tuberculosis – Non-Response to Treatment 

Underarm showing skin darkening, which is a feature of Addison's Disease
Underarm showing skin darkening, which is a feature of Addison’s Disease

What Is Primary Addison’s Disease?

[dropcap]A ddison’s disease is an autoimmune destruction of the adrenal glands by autoantibodies that target the adrenal cortex, or outer part of these glands, and is characterized by a slow progressive failure of the adrenal glands to adequately produce its steroid hormones.

Symptoms of adrenal fatigue or failure may not develop until the majority of adrenal tissue is destroyed. When untreated, progression leads to coma, called Addisonian crisis, which is a medical emergency.

There are two adrenal glands each located on top of a kidney and enclosed in a connective tissue capsule. Each is a small, triangular shape that is made of two parts: the outer region and the inner region.

The inner region, called the adrenal medulla, produces epinephrine and norepinephrine chemicals that are needed to deal with stress.

The outer region, called the adrenal cortex, produces adrenocortical (steroid) hormones and releases them into the bloodstream in response to pituitary stimulating hormone from the brain.

Q: What is the function of steroid hormones produced by the adrenal glands?

A: Functions of the three steroid hormones produced by the adrenal glands are:

  1. Glucocorticoids restrain inflammation and metabolism of carbohydrates, fats and proteins to maintain a normal glucose blood level. The major glucocorticoid is hydrocortisone.
  2. Mineralocorticoids regulate the retention and excretion of fluids and electrolytes by the kidneys. The most important mineralocorticoid is aldosterone.
  3. Androgen (testosterone) is a male sex hormone.

Secondary adrenal insufficiency may develop from other causes that are not immune related such as chronic infections, tumor, and medications.

What Is Addison’s Disease In Celiac Disease and/or Gluten Sensitivity?