A 17-year-old male presents with a lesion on his face that measures approximately 1.5 cm in its greatest dimension. He has a history of numerous similar skin lesions that have occurred mainly in sun-exposed areas. The present lesion is biopsied and given below. This patient most probably has one type of a group of inherited diseases associated with unstable DNA and increased incidence of carcinoma. What is the diagnosis for this patient?
The autosomal recessive DNA-chromosomal instability syndromes include ataxia-telangiectasia, Bloom's syndrome, Fanconi's anemia, and xeroderma pigmentosa. These disorders have in common abnormalities involving the normal repair of DNA. Patients with xeroderma pigmentosa have defective endonuclease activity, which normally repairs the pyrimidine dimers found in DNA damaged by ultraviolet (UV) light. These patients have an increased incidence of skin cancers, including basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. Wiskott-Aldrich syndrome, characterized by thrombocytopenia and eczema, is an immunodeficiency disease associated with an increased incidence of lymphomas and acute leukemias Familial polyposis is characterized by the formation of numerous neoplastic adenomatous colon polyps. These individuals have a 100% risk of developing colorectal carcinoma unless surgery is performed. Sturge-Weber syndrome is a rare congenital disorder associated with venous angiomatous masses in the leptomeninges and ipsilateral po-wine nevi of the face. Reference: Robbins & Cotran Pathologic Basis of Disease, 9edition.
Wiskott-Aldrich syndrome
Familial polyposis
Xeroderma pigmentosa
Sturge-Weber syndrome
General pathology