No abstract

No abstract

Full-thickness and epidermal autografts of normally pigmented skin were transplanted within hypopigmented areas in each of two patients with piebaldism. Full-thickness punch grafts 2 to 4 mm in size retained their pigmentation (donor dominance) and within 4 months pigment was found to have spread around them. Within a year, melanization covered roughly triple the diameter of the grafts (or 9 times their areas) and then came to a standstill. Epidermal grafts (about 12 mm in diameter) healed with no visible scars at either donor or recipient sites. These grafts, too, retained their pigmentation, but no pigment was seen to spread from them in 8 months of observation. Controls of hypopigmented, full-thickness autografts placed into comparable hypopigmented areas showed either no change or but slight pigmentation along the rim of the graft and no spread of pigment.

Dyskeratosis congenita and Fanconi’s anemia share impressive features in common: primary refractory pancytopenia; bone marrow hyperplasia (curtailed phase) and megaloblastosis, eventuating in severe hypoplasia of the marrow; cutaneous melanotic dyschromia; lacrimal duct blockage and a host of other minor abnormalities, in addition to mental retardation and generalized impairment of growth. Evaluation of two brothers with dyskeratosis congenita, and review of previous reports, indicate the following to be more prominent in dyskeratosis congenita than in Fanconi’s anemia: cutaneous telangiectatic erythema and atrophy; exocrine, ungual, and dental dysplasias; mucosal leukoplakia, carcinomatosis, and stenosis; and esophageal diverticula. Prominent in Fanconi’s anemia but not dyskeratosis congenita are the renal and particular skeletal anomalies. Possible transition cases are discussed. The proband studied suffered from progressive refractory pancytopenia, fevers, abdominal pains, malabsorption syndrome, and finally subarachnoid hemorrhage. Cultured leukocytes had normal-appearing karyotypes. The proband’s brother had cutaneous alterations of dyskeratosis congenita, but a hemogram revealed only mild thrombocytopenia and macrocytosis. Both brothers had elevated levels of hemoglobin F, leukocyte alkaline phosphatase, serum IgG, and thyroglobulin antibody, and both had reduced levels of serum IgM and vitamin B12.