What's the Diagnosis?
A 12-year-old immigrant female was admitted in the dermatology department with multiple brown lesions on the trunk and face and a large cerebriform plaque on the right side of her scalp. She was born with multiple brown papules and nodules on the trunk and face and a brown patch on the right side of her scalp. She reported an increase in the size of the lesions on her body and face over time and there was no associated pain or itching. According to history given by her parents, the lesion on the scalp was a small brown flat patch at birth and had increased in size and thickness over the last 8 years and in the past 5 years it had become nodular and cerebriform. The patient complained of intense itching and discharge which had recently become malodorous. Her birth and developmental history were normal. In physical examination, her developmental and nutritional status was normal. The head circumference was in normal range and her neurologic, cardiovascular, musculoskeletal, and ophthalmic examinations were normal The mass on the scalp sized 22 cm × 18 cm × 2.5 cm approximately with a nodular surface spread across the right side of the scalp.
Based on the description provided, the diagnosis is likely to be Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease. NF1 is a genetic disorder characterized by the development of multiple neurofibromas, which are benign tumors of the peripheral nerves. The cerebriform plaque on the scalp, along with the presence of multiple brown lesions on the trunk and face, fits the classic presentation of NF1. The intense itching and malodorous discharge from the scalp lesion may indicate secondary infection or ulceration. Further diagnostic tests, such as genetic testing or biopsy, may be required for confirmation.