Genodermatoses — Syndromes with Skin Tumors

A 28-year-old Indian male presents with multiple flesh-colored papules and nodules on his face, trunk, and extremities that have been present since childhood and are slowly increasing in number. His mother has similar lesions. On examination, he has café-au-lait spots on his trunk and axillary freckling. His vision is normal and there is no evidence of optic nerve involvement. Genetic testing reveals a heterozygous NF1 gene mutation. What is the most common malignancy he is at increased risk for developing?

A 35-year-old Indian woman presents with a history of multiple basal cell carcinomas (BCCs) on her face and trunk, with the first lesion appearing at age 16. She also reports a history of medulloblastoma treated with chemotherapy and radiation at age 8. On examination, she has multiple small pits on her palms and soles. Her father had similar skin lesions and died of pancreatic cancer at age 42. Genetic testing confirms a PTCH1 mutation. What is the most likely diagnosis?

A 35-year-old woman presents with a 5-year history of multiple flesh-colored to yellowish papules and nodules on the face, particularly around the mouth and chin. She also reports a history of breast cancer diagnosed at age 32 and thyroid nodules detected on ultrasound. On examination, she has multiple small papules on the oral mucosa. Her mother died of breast cancer at age 45. Genetic testing is being considered. What is the most likely diagnosis?

A 28-year-old man presents with a 2-year history of progressive skin lesions. Examination reveals multiple flesh-colored papules and nodules on the face, trunk, and extremities. He also reports a family history of similar skin lesions in his father and paternal grandfather. On dermoscopy, the lesions show a characteristic "Swiss cheese" appearance with central invaginations. Additionally, he has a history of recurrent infections and delayed wound healing. What is the most likely diagnosis?