Rare Genetic Diseases

A 12-year-old boy presented to the emergency department with worsening right eye pain, redness, photophobia, eyelid swelling, and blurred vision. His symptoms began 3 days after being struck in the right...

A 13-year-old boy presented to his pediatrician’s office with a 1-day history of left hip pain. The patient reported that he felt a sharp pain in his anterior left hip while running, causing him to limp. He...

A 3-year-old boy presented to an outpatient clinic with a history of painless edema involving both lower extremities since birth.

A 60-year-old woman presented to an outside hospital with hematochezia, hypotension, 4 days of abdominal pain, and shortness of breath.

A 30-year-old woman presented to the emergency department with concern for abdominal pain, which she stated was due to her having an acute event related to her diagnosis of acute intermittent porphyria. ...

A 57-year-old man was admitted to the hospital directly from a dermatology clinic due to suspected herpes simplex virus (HSV)-1 and HSV-2 superinfection.

On a medical mission trip to Tumbes, Peru, a 13-year-old boy presented with enlargement of his left leg. The father stated that his son’s leg had been progressively enlarging since early infancy. He said...

A previously healthy 3-month-old boy was brought to the primary care pediatric dermatology clinic by his parents for evaluation of worsening facial, diaper, and extremity rash.

A 4-month-old boy was brought to the craniofacial clinic with arhinia, severe protein-calorie malnutrition, tracheostomy tube, gastrostomy tube, dependence on supplemental oxygen, global developmental...

An 8-year-old Chinese boy presented with a history of sparse hair on the scalp, eyebrows, and eyelashes, and milky white and deformed fingernails and toenails that had developed gradually since early...