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Diaper dermatitis is caused by overhydration of the skin, maceration, prolonged contact with urine and feces, retained diaper soaps, and topical preparations and is a prototypical example of irritant contact dermatitis.

Pathophysiology

Diaper rash affects the areas within the confines of the diaper. Increased wetness in the diaper area makes the skin more susceptible to damage by physical, chemical, and enzymatic mechanisms. Wet skin increases the penetration of irritant substances. Superhydration urease enzyme found in the stratum corneum liberates ammonia from cutaneous bacteria. Urease has a mild irritant effect on nonintact skin. Lipases and proteases in feces mix with urine on nonintact skin and cause an alkaline surface pH, adding to the irritation. (Feces in breastfed infants have a lower pH, and breastfed infants are less susceptible to diaper dermatitis.) The bile salts in the stools enhance the activity of fecal enzymes, adding to the effect.

Age

Diaper dermatitis commonly affects infants, with peak incidence occurring when the individual is aged 9-12 months. One study determined that at any given time, diaper dermatitis is prevalent in 7-35% of the infant population.

Diaper dermatitis can affect persons of any age who wear diapers, in particular, elderly people.

Physical Examination

Patients with diaper dermatitis present with an erythematous scaly diaper area often with papulovesicular or bullous lesions, fissures, and erosions.

The eruption may be patchy or confluent, affecting the abdomen from the umbilicus down to the thighs and encompassing the genitalia, perineum, and buttocks. Genitocrural folds are spared in Continue reading »

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Introduction

Acute appendicitis is acute inflammation and infection of the vermiform appendix, which is most commonly referred to simply as the appendix. The appendix is a blind-ending structure arising from the cecum. Acute appendicitis is one of the most common causes of abdominal pain and is the most frequent condition leading to emergent abdominal surgery in children. The appendix may be involved in other infectious, inflammatory, or chronic processes that can lead to appendectomy; however, this article focuses on acute appendicitis.

Anatomy

The vermiform appendix is generally 5-10 cm in length. It arises from the cecum, which in most children is located in the right lower quadrant of the abdomen.

Although the base of the appendix is fixed to the cecum, the tip can be located in the pelvis, retrocecum, or extraperitoneum. Note that the anatomic position of the appendix determines the symptoms and the site of tenderness when the appendix becomes inflamed.

Pathophysiology

Once the appendix becomes obstructed, bacteria trapped within the appendiceal lumen begin to multiply, and the appendix becomes distended. The increased intraluminal pressure obstructs venous drainage, and the appendix becomes congested and ischemic.

The combination of bacterial infection and ischemia produce inflammation, which progresses to necrosis and gangrene. When the appendix becomes gangrenous, it may perforate. The progression from obstruction to perforation usually takes place over 72 hours.

During the initial stage of appendicitis, the patient feels only periumbilical pain due to the T10 innervation of the appendix. As the inflammation worsens, an exudate forms on the appendiceal serosal surface. When the exudate touches the parietal peritoneum, a more intense and localized pain develops.

If the contents become walled off and form an abscess, the pain and tenderness may be localized to the abscess site. If the contents are not walled off and the fluid is able to travel throughout the peritoneum, the pain and tenderness become generalized.

Causes

Acute appendicitis is due to obstruction of the blind ending appendix, resulting in a closed loop. In children, obstruction usually results from lymphoid hyperplasia of the submucosal follicles. The cause of this hyperplasia is controversial, but dehydration and viral infection have been proposed. Another common cause of obstruction of the appendix is a fecalith.

Rare causes include foreign bodies, parasitic infections (eg, nematodes), and inflammatory strictures.

Prognosis

Generally, the prognosis is excellent. At the time of diagnosis, the rate of appendiceal perforation is 20-35%. The rate of perforation is 80-100% for children younger than 3 years, compared with 10-20% in children 10-17 years old. Children with ruptured appendicitis are at risk for intra-abdominal abscess formation and small bowel obstruction, and they can have a prolonged hospital Continue reading »
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The most common of the lipid storage diseases, Tay-Sachs disease results from a congenital deficiency of the enzyme hexosaminidase A. It’s characterized by progressive mental and motor deterioration and is usually fatal before age 5, although some adolescents and adults with variations of hexosaminidase A deficiency have been noted.
Causes
Tay-Sachs disease (also known as GM2 gangliosidosis) is an autosomal recessive disorder in which the enzyme hexosaminidase A is virtually absent or deficient. This enzyme is necessary for metabolism of gangliosides, water-soluble glycolipids found primarily in central nervous system (CNS) tissues. Without hexosaminidase A, accumulating lipid pigments distend and progressively destroy and demyelinate CNS cells.
Tay-Sachs disease strikes persons of Eastern European Jewish (Ashkenazi) ancestry more often than the general population, occurring in about 1 in 2,500 live births in this ethnic group. About 1 in 25 Ashkenazi Jews are heterozygous carriers.
Signs and symptoms
A neonate with classic Tay-Sachs disease appears normal at birth, although he may have an exaggerated Moro reflex. By age 3 to 6 months, he becomes apathetic and responds only to loud sounds. His neck, trunk, arm, and leg muscles grow weaker, and soon he can’t sit up or lift his head. He has difficulty turning over, can’t grasp objects, and has progressive vision loss.
By age 18 months, the infant is usually deaf and blind and has seizures, generalized paralysis, and spasticity. His pupils are dilated and don’t react to light. Decerebrate rigidity and a vegetative state follow. The child suffers recurrent bronchopneumonia after age 2 and usually dies before age 5. A child who survives may develop ataxia and progressive motor retardation between ages 2 and 8.
The “juvenile” form of Tay-Sachs disease generally appears between ages 2 and 5 as a progressive Continue reading »
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