Fanconi's anemia. Tumor-like warts, hyperpigmentation associated with deranged keratinocytes, and depressed cell-mediated immunity.
A 27-year-old man had had Fanconi's anemia (FA) for 20 years. The patient had pancytopenia, retarded growth, hypogonadism, and chromosomal aberrations. He had freckle-like and darker pigmented macules scattered on his chest, shoulders, upper part of the back, and hips, with interspersed, hypopigmented areas. Biopsy specimens taken from both the hyperpigmented and hypopigmented spots showed a derangement of keratinocytes and nuclear abnormalities, more notable on sun-exposed skin sites. The patient also had numerous tumor-like, recalcitrant, viral warts. Immunologic studies showed normal humoral immunity, but there was evidence of depressed cell-mediated immunity. We speculate that the chromosomal aberrations, the depressed cell-mediated immunity, and the increased frequency of malignant neoplasms known to occur in patients with FA also reflect changes related to an increased susceptibility to viral infections.
D000328:Adult; D000741:Anemia, Aplastic / Q000150:complications*; D002467:Cell Nucleus / Q000473:pathology; D005199:Fanconi Anemia / Q000150:complications* / Q000276:immunology / Q000473:pathology; D006801:Humans; D006968:Hypersensitivity, Delayed / Q000150:complications*; D007958:Leukocyte Count; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications*; D013601:T-Lymphocytes; D014860:Warts / Q000150:complications*