Editorial Note: The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please contact us.
Background
A 17-year-old girl presents to the outpatient department with chronic, recurrent oral fungal infections, chronic diarrhea, recurrent abdominal pain, and vomiting since childhood. She has also been experiencing dizziness (especially on erect posture), darkening of the skin and oral cavity, and a low-grade fever for the last 6-8 months.
The oral thrush and ulcers have been recurrent since childhood; these are not associated with any antibiotic intake or trauma. Diarrhea has also occurred on and off since childhood, with 4-7 watery-to-semisolid bowel movements per day associated with crampy abdominal pain but not blood or mucus. The bowel movements are not associated with intake of wheat or wheat products; however, they do occur more frequently with the ingestion of meat and meat products.
The recurrent abdominal pain is more prominent in the central abdomen, is colicky without radiation, and is not associated with distention. Vomiting has occurred with a variable frequency of approximately 3-5 episodes a day. When she vomits, it is watery, usually associated with meals, and occasionally contains food particles; there have been no instances of blood in the vomitus. She complains of dizziness, especially on standing up from a supine or a sitting position.
According to the patient, darkening of the oral mucosa and the skin on her palms (especially in the palm creases), digits, and joints has been progressing for the last 1-2 years, with no history of prolonged exposure to sunlight.
Her intermittent fevers over the last 6-8 months have tended to be low-grade, occur at night, and be associated with sweating but not rigors or chills. She also has a history of lethargy, easy fatigability, and palpitations on exertion without chest pain; however, she has no history of loss of consciousness. Her appetite has decreased. The patient has lost about 11 lb (5 kg) over a period of 6 months.
She has experienced some hair loss, but no vitiligo has been noted. She also reports a history of nasal obstruction, sneezing, and postnasal drip, but she has not had hemoptysis. She has no history of joint swelling or pain. Additionally, she has not had any eye pain or decreased vision, but she has had difficulty in performing her routine activities such as going to the bathroom because of dizziness and weakness. She generally remains in bed.
The patient also reports dysmenorrhea. She has a history of polymenorrhagia but has had amenorrhea for the last year. She remains anxious and depressed. She has no known allergies, does not smoke, drink alcohol, or use illicit drugs, and she is not currently on any regular medication. She is unmarried, has no sexual contacts, and belongs to a middle-class family. She has no history of blood transfusion. The family history is significant for 2 siblings with similar presentations from early childhood. Her parents are alive and healthy.
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Cite this: 17-Year-Old With Hair Loss, Dysmenorrhea, Thrush, and Diarrhea - Medscape - Mar 15, 2022.
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