Easy Pediatrics

Introduction to Short Stature

Endocrinology No Responses »

Dec 272010

Disturbances of growth are the most common presenting complaints in the pediatric endocrine clinic.
- Fetal growth is dependent on maternal factors (placental sufficiency, maternal nutrition, etc.), insulin-like growth factor-2 (IGF-2) and insulin.
- Growth in late infancy and childhood is dependent on growth hormone/IGF-1 axis and thyroid hormone. Growth is more rapid during infancy—up to 20 cm per year. It is common to see shifts in the growth curve in the first 18 months when children are adjusting to their genetic potential growth isopleth. During childhood, growth rate is fairly constant at approximately 2 inches (approximately 5 cm) per year.
- Pubertal growth is dependent on sex hormones as well as growth hormone/IGF-1 axis and the thyroid gland. There is a mild deceleration in growth velocity before initiation of pubertal growth spurt.
Abnormal growth and stature: criteria
- Child’s growth curve is crossing percentiles.
- Child’s growth rate is <2 inches or 5 cm per year.
- Height is >2 standard deviations (SDs) (4 inches/10 cm) below from midparental height.
If poor weight gain and lack of nutrition is the problem without affecting height velocity, it is unlikely to be an endocrine cause and patient may warrant a gastrointestinal evaluation instead.

Etiology

Normal growth patterns that can look like a growth disorder
- Genetic (familial) short stature. Children have normal growth velocity, normal timing of development and puberty, and bones fuse at the appropriate age. Height is short because of a short mother and/or a short father. Bone age (BA) = chronologic age (CA).
- Constitutional delay of growth and puberty. Children have normal growth velocity, Continue reading »

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Atopic Dermatitis (Eczema)

Immunology, Skin No Responses »

Dec 262010

Atopic dermatitis is a chronic relapsing and remitting inflammatory skin disease characterized by dermatitis with typical morphology and distribution.
Eczema is a generic term for a constellation of clinical signs, whereas atopic dermatitis is a term that specifically connotes an allergic contribution to the etiology of the eczema.
The overall prevalence of atopic dermatitis in the United States is 17% among school-aged children, leading to considerable disease-related morbidity, including irritability, secondary skin infections, sleep disturbance, school absenteeism, and poor self-image.

History

Age of onset is a consideration, with 45% of affected individuals manifesting atopic dermatitis in the first 6 months of life, 60% by the first year, and 85% by school age.
Pruritus is a cardinal feature of eczema, often described as the “itch that rashes.” Scratching leads to further compromise in the skin barrier and augments inflammation.
Xerosis (dry skin) also involves nonlesional skin. (In other conditions, commonly mistaken for atopic dermatitis (seborrheic dermatitis, nummular eczema, and psoriasis), the uninvolved skin is generally healthy.)
Patients may have a personal and family history of atopy (asthma, hay fever, food allergy).
Exacerbating factors include food allergens (most frequently egg, milk, wheat, soy, peanut, tree nuts, shellfish) and inhalant allergens (e.g., pet dander, house dust mite).
Systemic involvement, with failure to thrive, chronic diarrhea, and/or recurrent infections should prompt consideration of underlying systemic disease, such as immunodeficiency (e.g., Wiskott-Aldrich syndrome, Netherton syndrome, immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, and hyper-IgE syndrome), or malabsorption (e.g., zinc deficiency or cystic fibrosis).

Physical Examination

Xerosis
Morphology of lesions
- Acute lesions: pruritic papules with excoriation and serous exudation
- Chronic lesions: lichenified papules and plaques
- Superficial linear abrasions from scratching
- Indistinct lesional borders, unlike that of psoriasis
Areas of involvement. Although atopic dermatitis may appear anywhere on the body, characteristic patterns include:
- Infants: cheeks, forehead, and extensor surface of extremities
- Children/adolescents: flexor surface of extremities popliteal and antecubital fossae, and ventral surface of wrists and ankles Continue reading »

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Fragile X syndrome (FXS), or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical and intellectual limitations and emotional and behavioral features which range from severe to mild in manifestation.

Frequency

Conservative estimates report that fragile X syndrome affects approximately 1 in 4000 males and 1 in 8000 females.

Pathology

The symptoms of fragile X syndrome are caused by abnormalities in DNA on the X chromosome. Examination of the karyotype reveals a constriction at the end of the long arm of the X chromosome, followed by a thin strand of genetic material. The constriction and thin strand give the appearance of a fragile portion of the X chromosome. Sequencing of the genetic material reveals a repeating base pair triplet that is responsible for the syndrome.

Symptoms and Signs

People with fragile X syndrome have physical, cognitive and behavioral abnormalities. They have large, protuberant ears; a prominent chin and forehead; a high arched palate; and, in postpubertal males, macroorchidism. The joints may be hyperextensible, and heart disease (mitral valve Continue reading »

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Introduction to Short Stature

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