Case 2: Pimples in prepuberty: A five-year-old with an unusual cause of facial comedones

Abstract

A five-year-four-month-old Caucasian boy of nonconsanguineous parents presented with a one-year history of papules over the cheeks, glabella and ears. His mother noted that he experienced several episodes of body odour that resolved spontaneously. He also experiences occasional headaches. He had no history of salt-craving, axillary or pubic hair, or change in phallus size. Rapid growth was noted by the mother in the past six months. His medical history was unremarkable, and the family history only revealed that the paternal grandmother’s first child died shortly after birth. No autopsy results were available. On examination, the patient was in no distress. His blood pressure was 94/53 mmHg, and his pulse was 87 beats/min. His height was 120.7 cm and his weight was 21.3 kg, at the 97th and 80th percentiles, respectively. He had no body odour, his penile length was 7 cm (>2 SD) and his testes were descended and 3 mL in volume. His cutaneous examination revealed multiple keratotic papules on his cheeks, as well as open comedones around the inner and outer ears and nose. He exhibited no cutaneous hyperpigmentation. Partial initial laboratory results demonstrated a normal complete blood count, electrolyte levels, and normal tests of liver and renal function. Follicle-stimulating and luteinizing hormone levels were also within normal limits. His bone age was nine years. Additional investigations revealed the diagnosis.