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CASES

Infant with failure to thrive and hypotoniaA 4-month-old girl arrives at the clinic for a well-child visit. Her mother voices concerns about the infant’s poor weight gain, slow feeding habits, and physical delays such as head lag, poor grasp reflex, and rolling over.
Itchy blisters bother a 12-year-old girlThe mother of a 12-year-old girl brings her daughter to the office for evaluation of recurrent, itchy red bumps and blisters on her legs. The mother gets the same rash recurrently as well.
Tight, shiny membrane encases newborn’s skinAfter a cesarean delivery at 30 weeks, a 1430-gram premature female neonate was noted to have generalized thick, dark brown scale forming a tight membrane over her entire skin surface. Her mother was a healthy 19-year-old gravida 1 with normal prenatal screening ultrasound and laboratory studies. Family history did not reveal any congenital malformations or genetic disorders.
Recurrent brown spots in an infant girlA mother brings her healthy 6-month-old girl to the outpatient clinic with disseminated, asymptomatic, golden-brown bumps that occasionally become red and swollen.
Small-for-age toddler is unable to walkA 22-month-old African American boy born at 38 weeks by normal vaginal delivery presents to a local hospital from a private pediatric office for failure to thrive. He was seen by his pediatrician until aged 1 month but was lost to follow-up. His delay in walking prompted his mother to reestablish care at age 22 months.
Infant’s disseminated rash is twice misdiagnosedA frustrated mother carries her 2-month-old son into the office for evaluation of a diffuse bright red rash with dramatic hypopigmentation. Scalp, neck, axillary, and diaper areas are involved.
Newborn with persistent hypoglycemiaA full-term male infant was born to a 33-year-old gravida 3, para 3 mother. The prenatal course was uncomplicated, without gestational diabetes; the mother received prenatal care at an out-of-state institution. At the delivery, however, the baby was notably macrosomic, with shoulder dystocia and perinatal distress requiring positive pressure ventilation.
Adolescent with enlarging asymptomatic birthmarkAn 11-year-old girl asks her pediatrician about an asymptomatic birthmark on her right thigh that drains clear to slightly bloody-tinged fluid occasionally when scratched. It has increased in size proportionally as she has grown.
Infant with facial lesions and respiratory distressA 2-month-old Hispanic girl is transferred by her pediatrician to the emergency department (ED) for evaluation of decreased oral intake, failure to thrive, and large bleeding facial hemangiomas.
Girl with rash and muscle weaknessThe mother of a healthy 10-year-old girl brings her child to the office for evaluation of new onset “eczema.” The rash is asymptomatic and began on the patient's upper eyelids, later spreading to her chest and extremities over several weeks. The child complains of difficulty riding her bicycle.

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