Most of us think of our skin as a simple, durable covering for our skeleton, muscles, and internal organs. However, the skin is a complex organ, in fact the largest organ of the body, consisting of many parts and appendages ( Fig. 8.1 ). The outermost layer, the stratum corneum, is an effective barrier to irritants, toxins, and organisms, as well as a membrane that holds…
Acknowledgments We extend our deepest thanks to the original author of this chapter—Dr. Aldo V. Londino. Dr. Londino, until the time of his passing in 2000, was the sole pediatric rheumatologist in western Pennsylvania and was widely recognized for his superb teaching and clinical skills. We are also grateful for the contributions of the previous authors, Drs. Andrew H. Urbach, Sara C. McIntire and Paul Rosen;…
Child abuse and neglect constitute a pediatric public health problem of enormous magnitude. Their contribution to morbidity and mortality throughout life has been shown to be much greater than had previously been realized. More than a million children are abused every year in the United States; approximately 140,000 incur serious injuries and nearly 20,000 are left with permanent physical disabilities, such as cerebral palsy and blindness.…
This chapter addresses the initial approach to a patient with suspected or known heart disease with the physical examination, chest x-ray, and electrocardiogram (ECG). A proper initial assessment helps to avoid unnecessary testing. However, the practice of cardiology as a pediatric subspecialty continues to rapidly evolve with expansion and enhancement of imaging technology and therapeutic options. Complex structural congenital anomalies can be precisely defined by a…
Disorders of the immune system are diverse and range from mild to severe in their manifestations and impact on normal function. In this chapter, we review the physical findings and characteristic symptoms of children with hypersensitivity reactions and immune deficiencies, as well as diagnostic techniques and radiographic findings. Topics have been chosen on the basis of their prevalence and importance in the pediatric population and their…
Pediatricians need to be able to distinguish normal development and individual differences from delayed or atypical patterns of development and behavior in both routine health supervision and in comprehensive management of children with other medical conditions. Once developmental or behavioral delays have been identified, the pediatrician conducts a diagnostic workup, initiates management, refers to appropriate services, counsels families, and coordinates care. The goal of this chapter…
General Techniques of Physical Examination Assessment of the Newborn The purposes of the routine newborn assessment are to determine the infant’s gestational age, document normal growth and development for a given gestational age, uncover signs of birth-related trauma or congenital anomalies, and evaluate the overall health and condition of the infant. The assessment begins with the establishment of a historical database. Information may be obtained from…
Acknowledgments The authors thank members of the medical genetics staff who worked tirelessly to help accumulate the clinical pictures and the families who graciously consented to allow photographs to be taken to advance teaching and education. The field of pediatric genetics and dysmorphology is complex, interesting, and rapidly evolving. Our knowledge base is gleaned from the careful observations of master clinicians and scientists who recognized clinical…
Introduction Atherosclerotic cardiovascular disease (ASCVD) is a major cause of morbidity and mortality among adults in industrialized countries. Dyslipidemia (specifically elevated low-density lipoprotein [LDL] cholesterol, low high-density lipoprotein [HDL] cholesterol, and high non-HDL cholesterol and triglycerides [TGs]) has been identified as an independent risk factor in the development of ASCVD. There is strong evidence that lipoprotein levels track from childhood into adulthood and that abnormal levels…
Introduction The global prevalence of pediatric obesity has increased by a staggering eightfold over the past 4 decades with a current estimate of 124 million children, ages 5 to 19, having obesity worldwide. The concept of the adipocyte functioning as an endocrine organ rather than simply serving as a repository for lipid storage emerged a quarter of a century ago when leptin was identified as the…
Introduction Glucose is an obligate fuel for the brain under physiological conditions. The brain can neither synthesize glucose nor store more than approximately a 20-minute supply of glycogen; therefore brain survival requires a continuous supply of glucose. The brain can use alternative fuels from the circulation, provided their concentrations rise high enough to enter the brain in sufficient amounts; for example, elevated ketones during prolonged fasting…
Introduction The autoimmune polyglandular syndromes (APS) are uncommon constellations of organ-specific autoimmune diseases characterized by the occurrence of more than one autoimmune disease in an affected individual ( Table 22.1 ). Although autoimmune endocrine disorders commonly affect single organs, multiorgan autoimmune involvement of both endocrine and nonendocrine organs and tissues, secondary to loss of self-tolerance, is a characteristic feature of APS. Table 22.1 The Autoimmune Polyglandular…
Introduction Diabetes mellitus (DM) is a syndrome of disturbed energy metabolism involving carbohydrate, protein, and fat brought about by absolute or relative deficiency of insulin secretion, in the context of sensitivity or resistance to insulin actions at various tissue sites. Thus both the extent of impairment in insulin secretion and tissue sensitivity to its actions define the severity of the clinical manifestations, most commonly monitored by…
Acknowledgment In memory of Frank B. Diamond, Jr, MD. Disorders of calcium, magnesium, and phosphate metabolism and of bone formation, accrual, and maintenance during the first 2 decades of life result from suboptimal ingestion, absorption, or retention of constituent nutrients, abnormal vitamin D metabolism or bioactivity, disorders of parathyroid hormone (PTH) synthesis, secretion, or action, and intrinsic aberrations in cartilage and bone cells. The origins of…
Introduction Concurrent with increasing public awareness of individuals whose gender identity is not aligned with their physical sex characteristics, there has been an increasing number of gender nonconforming/transgender youth seeking medical services to enable the development of physical characteristics consistent with their experienced gender. In eligible individuals, current clinical practice guidelines endorse use of agents to block endogenous puberty at Tanner stage 2 development with subsequent…
Puberty is the process through which children attain adult secondary sexual characteristics and reproductive capability. In humans, two distinct processes of sexual maturation are recognized: gonadarche and adrenarche. Gonadarche is defined as the growth and maturation of the gonads, resulting in increased sex steroid secretion (most notably testosterone in boys) and spermatogenesis. Gonadarche requires an intact hypothalamic-pituitary-gonadal (HPG) axis, and any disruption of this axis can…
Historical background Turner syndrome (TS) is defined as a disorder caused by complete or partial absence of the second sex chromosome, with or without cell line mosaicism. This further needs to be associated with one or more characteristic physical features in a phenotypic female, such as short stature or primary ovarian insufficiency. The eponym comes from a study published in 1938 by Henry Turner, who described…
Puberty is the stage of development during which secondary sexual characteristics appear and there is a transition from the sexually immature to the sexually mature stage. Adolescence is widely used as a generally synonymous term for puberty, but it is often used to convey an added cultural connotation as a psychosocial coming of age. By the mid-1960s a general concept of the major factors involved in…
Introduction Endocrine neoplasms comprise a variety of benign and malignant tumors that arise from the endocrine glands or other neuroendocrine tissues, such as the paraganglia. Most childhood endocrine tumors, typified by papillary thyroid carcinoma, are sporadic and not attributable to an identifiable germline mutation whereas others, epitomized by catecholamine-producing tumors ( Table 15.1 ) and medullary thyroid carcinoma (MTC), are familial and occur within the context…
History, embryology, and anatomy The adrenal cortex produces three principal categories of steroid hormones that regulate a wide variety of physiologic processes from fetal to adult life. Mineralocorticoids, principally aldosterone, regulate renal retention of sodium and thus profoundly influence electrolyte balance, intravascular volume, and blood pressure. Glucocorticoids, principally cortisol, are named for their carbohydrate-mobilizing activity, but they are ubiquitous physiologic regulators, influencing a wide variety of…