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June 1993

Fanconi's Anemia With Cutaneous Amyloidosis

Author Affiliations

Department of Dermatology; Department of Hematology; Department of Genetics; Department of Dermatology Hospital Clínico Casanova 143 08036 Barcelona, Spain

Arch Dermatol. 1993;129(6):788-789. doi:10.1001/archderm.1993.01680270132024

To the Editor.—  Fanconi's anemia was described as a disorder with aplastic anemia, abnormal skin pigmentation, microcephaly, internal strabismus, and genital hypoplasia.1 Subsequently, other somatic abnormalities were added, including skeletal and renal defects, development of malignancy,2 and an increased occurrence of spontaneous chromosome damage.3 We describe a patient with Fanconi's anemia and pruritus in whom cutaneous amyloidosis was demonstrated. Such an association has not been previously reported.

Report of a Case.—  A 34-year-old man presented because of longlasting diffuse pruritus. His medical history included moderate pancytopenia and abnormal skin pigmentation since early childhood. He required a single packed red blood cell transfusion at the age of 13 years. The patient was small, and showed generalized blue-gray hyperpigmentation, with achromic spots and some café au lait patches as well as microcephaly, micropthalmos, and cryptorchidism. No poikiloderma was noted. Laboratory studies showed that the hemoglobin concentration was 93 g/L, the white blood cell count was 2.6X109/L, and the platelet count was 105X109/L.

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