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Turner’s Syndrome 

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

What Is Follicular Hyperkeratosis?

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. [↩]

Urticaria or Hives, Chronic

Photo of Skin Rash in ITP Courtesy Wikipedia.
Photo of Skin Rash in ITP Courtesy Wikipedia.

What Is Immune Thrombocytopenic Purpura?

I mmune thrombocytopenia purpura (ITP), formerly called idiopathic, is an immune mediated bleeding disorder characterized by destruction of circulating platelets (thrombocytes) by autoantibodies in the presence of normal bone marrow and without other conditions that cause bleeding problems including many medications.

Q: How do autoantibodies destroy platelets?

A: Autoantibodies bind to normal platelet surface antigens (targets) which forms a complex that is cleared from blood by the reticuloendothelial system. Consequently, this condition results in an abnormal decrease in the number of platelets circulating in blood plasma.

Platelets are cells that are needed to stop bleeding. A normal platelet count is in the range of 150,000 to 450,000. With ITP, the platelet count is less than 100,000. By the time significant bleeding occurs, the patient may have a platelet count of less than 10,000. The lower the platelet count, the greater the risk of bleeding. 

Because of inability of blood to properly clot due to lack of sufficient platelets, a distinctive purplish rash develops under the skin from blood leakage and an appearance of many small red spots of varying size can cover the skin. Depending on the number of platelets, there may be minimal to extensive bleeding in various parts of the body.  Bleeding in the brain is the worst complication, causing death in approximately 1% of affected children and 5% of affected adults.

Immune thrombocytopenic purpura is common in childhood, on average 50 cases per 1,000,000 per year with same incidence in boys as girls. It may follow a viral infection or immunization and is caused by an inappropriate response of the immune system to cross react against the body’s platelets.1

The incidence of immune thrombocytopenic purpura in adults is approximately 66 cases per 1,000,000 per year.  Older persons and persons with a previous history of hemorrhage are at increased risk of severe bleeding in adult ITP.  

Spontaneous remission occurs in most children (80%).  Remission in adults usually requires treatment. 

What Is Immune Thrombocytopenic Purpura In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Dogan M, Sal E, Akbayram S, Peker E, Cesur Y, Oner AF. Concurrent celiac disease, idiopathic thrombocytopenic purpura and autoimmune thyroiditis. Clin Appl Thromb Hemost. 2011 Nov-Dec;17(6):E13-6. doi: 10.1177/1076029610378502. Epub 2010 Aug 3. [↩]

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?

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. [↩]

Endocrine Glands: definition

Glands which empty their hormone substances into the bloodsteam and from there to a targeted part of the body such as insulin produced by the pancreas and thyroxine produced by the thyroid gland. They are… 

Rickets

Seborrhea patches at the inner eyebrows. GFW
Seborrhea patches at the inner eyebrows. GFW

What Is Seborrhea Dermatitis?

S eborrhea dermatitis is a recurring inflammatory disorder of sebaceous glands characterized by scaly patches of skin, often with bumps.

Seborrhea dermatitis results from the body’s inflammatory reaction to invasion by pityrosporum yeast that naturally inhabits the scalp and skin.1 Inflammation is the normal response to tissue injury and germ invasion.

Pityrosporum is a yeast that is commonly present worldwide. Its development depends on various factors that predispose to pityriasis versicolor, a chronic and mild superficial yeast infection. These infections usually are asymptomatic without itching or pain and without cellular and/or antibody responses.2

Q: Why are the sebaceous glands particularly affected by this yeast?

A: Pityrosporum yeast is an organism that needs oil produced by sebaceous glands to grow. If conditions permit, this yeast invades the superficial layer of skin and hair shafts to reproduce, causing infection. Such conditions include weakened skin due to nutritional deficiencies, excessive build-up of oil on skin, and altered immunity due to systemic disease such as psoriasis.

In adults, areas of skin that are the most affected have the greatest number of sebaceous glands especially the scalp, back, underarms, and the face including the eyelids, eyebrows and side folds of the nose.

All ages are subject to seborrhea dermatitis, and males have a higher occurence than females.

What Is Seborrhea 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. Zarei-Mahmoudabadi A, Zarrin.  M, Mehdinezhad F. Seborrheic dermatitis due to Malassezia species in Ahvaz, Iran. Iran J Microbiol. 2013 Sep;5(3):268-71. [↩]

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?

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?

Short Stature

What Is Vitiligo? V itiligo is a pigmentation disorder of the skin characterized by permanent loss of melanocytes in defined areas and, in some patients, antibodies to melanin. Vitiligo has significant psychological impact if occurring before… 

Attention Deficit Hyperactive Disorder (ADHD)

A small intestinal mucosa from a case of refractory coeliac disease immunostained sequentially for CD3 (alkaline phosphatase-blue) and CD8 (peroxidase-brown). Most intraepithelial lymphocytes are CD3+, CD8-.Courtesy pubcan.org
Mucosa  in refractory celiac  disease immunostained sequentially for CD3 (alkaline phosphatase-blue) and CD8 (peroxidase-brown). Most intraepithelial lymphocytes are CD3+, CD8-. Courtesy pubcan.org

What Is Refractory Celiac Disease?

R efractory celiac disease, formerly called refractory sprue, is a severe complication characterized by persistence of symptoms and intestinal inflammation despite gluten free diet after 12 months.1

Refractory celiac disease appears in two forms, ulcerative jejunitis (RCD I) and cryptic intestinal T-cell lymphoma (RCD II).

Patients with RCD I seem to profit from immunosuppressive treatment, but positive response to corticosteroid treatment does not exclude underlying enteropathy–associated T-cell lymphoma (EATL).

Patients with RCD II have a high percentage of abberant T-cells and is usually resistant to medical therapies. The presence of an aberrant clonal intraepithelial T-cell population has led to the designation of refractory celiac disease with this population as a cryptic intestinal T-cell lymphoma, characterized by frequent dissemination to the blood and the entire gastrointestinal lining.2

  • Refractory sprue may occur after an initial response to gluten free diet or without any evidence of preexisting celiac disease. All other causes of malabsorption must be excluded, such as collagenous colitis.
  • In a subgroup of patients with enteropathy-associated T-cell lymphoma (EATL) there is progressive deterioration of a refractory form of celiac disease. The prognosis is poor, although some patients respond to corticosteroids and immunosuppressive agents.3
  • A nationwide Finnish study showed that patients of male gender, older age, severe symptoms or seronegativity (negative antibody result) at the diagnosis of celiac disease are at risk of future refractory coeliac disease and should be followed up carefully.4
  • Chorea has been described as a paraneoplastic phenomenon in patients with non-Hodgkin’s lymphoma and has been described as associated with lymphoma arising from a background of refractory celiac disease. The finding of chorea in association with celiac disease should prompt a search for possible underlying intestinal T-cell lymphoma.5

How Prevalent Is Refractory Celiac Disease?

Sources:
  1. Murray JA, The widening spectrum of celiac disease. American Journal of Clinical Nutrition. Mar 1999;69 (3):354-365. [↩]
  2. Culliford AN, Green PH. Refractory sprue. Current Gastroenterology Reports. Oct 2003;5(5):373-8. [↩]
  3. Culliford AN, Green PH. Refractory sprue. Current Gastroenterology Reports. Oct 2003;5(5):373-8. [↩]
  4. Ilus T, Kaukinen K, Virta LJ, Huhtala H, Mäki M, Kurppa K, Heikkinen M, Heikura M, Hirsi E, Jantunen K, Moilanen V, Nielsen C, Puhto M, Pölkki H, Vihriälä I, Collin P. Refractory coeliac disease in a country with a high prevalence of clinically-diagnosed coeliac disease. Aliment Pharmacol Ther. 2014 Feb;39(4):418-25. doi: 10.1111/apt.12606. [↩]
  5. Kitiyakara T, Jackson M, Gorard DA. Refractory coeliac disease, small-bowel lymphoma and chorea. J R Soc Med. 2002 Mar;95(3):133-4. [↩]

Tremors

chronic abdominal distention celiac disease gluten symptomWhat Is Chronic Abdominal Distention?

A bdominal distention, or bloating, is characterized by enlargement in normal size of abdomen not due to fatty tissue.

Q: Why does the abdomen enlarge?

A: The abdomen enlarges because the bowel is dysfunctional. Loops of bowel usually lack normal peristalsis (rhythmic wave-like muscle movement) trapping gas in stagnant loops of bowel, inflammation swells loops of bowel also trapping gas, and dysbiosis overproduces gas. All these factors distend the abdomen.

What Is Chronic Abdominal Distention In Celiac Disease and/or Gluten Sensitivity?

Vasculitis, Cerebral (Cause of Stroke, TIA, and Seizure)

Lactose IntoleranceWhat Is Lactose Intolerance?

L actose intolerance is a well known symptom of carbohydrate malabsorption characterized by inability to properly digest lactose, the sugar in milk, due to low lactase digesting activity in the small intestine.

Lactase is an enzyme produced by specialized cells in the tips of villi within the brush border of the small intestinal lining that digests lactose.

Lactose is a disaccharide, or double sugar, made up of a molecule of glucose and a molecule of galactose (simple sugars). Lactose cannot be absorbed as is into the body unless it is broken down by lactase into glucose and galactose.

Q: How does lactose cause diarrhea?

A: If lactose is not broken down, undigested lactose moves into the colon where it acts osmotically to draw water from the walls of the colon into the lumen, which causes diarrhea by the unnatural amount of water. How much water? Can be 2 liters! Meanwhile, the normal population of colonic bacteria ferment the undigested lactose, generating short-chain fatty acids and hydrogen gas, resulting in bloating pain and flatulence.

Testing for intolerance is based on the action of lactose to increase intestinal permeability.1 Positive response to a breath hydrogen test (BHT), involving 1 – 3 hours of time post ingestion of lactose 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 activity of lactase in a tissue sample.

Treatment is avoidance of milk and dairy products that contain lactose. Nevertheless, milk treated with lactase enzyme can be safely consumed. Fermented milk products like yogurt or kefir are safe because the lactose has been digested by organisms. If there is also a problem with milk protein, then no milk is acceptable that comes from the cow or animal that is causing the allergy.

What Is Lactose Intolerance In Celiac Disease and/or Gluten Sensitivity?

Sources:
  1. Farhadi A, Banan A, Fields J, Keshavarzian A. Intestinal barrier: an interface between health and disease. Journal of Gastroenterology and Hepatology. 2003;18:479-91. [↩]