Fanconi anemia (FA) is an autosomal recessive disorder of progressive bone marrow failure in patients with congenital malformations. FA is different from acquired aplastic anemia (AA) in terms of the natural course and treatment options. As the frequency of FA is unknown in Korea, we conducted screening tests using DNA clastogenic agents, diepoxybutane (DEB) and mitomicin C (MMC) in southwestern Korea. Forty-three children with AA or other bone marrow failure syndromes and siblings of known FA were evaluated. Six patients with AA (6/24=25.0%) and a 2-month-old patient with myelodysplastic syndrome were found to have increased chromosomal breakage to both DEB and MMC, confirming the diagnosis of FA. No overlap in chromosomal breakage to both agents was found between the FA group and non-FA group. The frequency of FA in this study, much higher than those of previous studies in Korea which did not incorporate the above tests, was similar to that of other countries. DEB and MMC tests were readily feasible and useful in screening FA in patients with AA as well as other bone marrow failure syndromes. A nation-wide screening and registry for FA should be initiated since FA requires different therapeutic and management options from idiopathic AA.
A 46‐year‐old man visited our department with masses on the face and a skin problem. Approximately 15 years ago, he had noticed marked thickening of the skin on the face and scalp, which had exaggerated progressively to produce deep wrinklings with seborrhea ( Fig. 1). He had profuse perspiration of the face, hands, feet, and the upper aspects of the trunk. 1 Clinical features of pachydermoperiostosis, consisting of thickened skin folds and deep wrinkles on the forehead and scalp. A large ulcerative tumor on the nasal dorsum and a nodular one on the glabellar area (arrow) can be seen. Three years earlier, he developed a single nodule on the nose, which progressed to an ulcerated mass. In addition, another tender nodule was noticed on the glabella 3 months prior to his visit. He had chronic epigastralgia and diffuse arthralgia. His brother, 52 years old, had similar lesions of pachydermia and cutis verticis gyrata with digital clubbings. His two sisters had no skin lesions, but suffered from congenital cyanotic heart disease and spinal deformity, respectively. Human leukocyte antigen (HLA) typings between the two affected brothers revealed almost identical HLA‐A, HLA‐B, and HLA‐C class I antigens. On physical examination, the patient was a short, underdeveloped man with a height of 153 cm and weight of 44 kg. The larger tumor on the nose was 3.0 × 3.5 cm in diameter, producing a perforated tunnel connecting to the nasal cavity. Facial follicular papules, blepharoptosis, palmoplantar blanching, plantar thickening with fissures, and swelling of the knees and ankles were also observed. Histopathologic findings of the main tumor revealed pleomorphic, atypical squamous cells with mixed inflammatory cells, and numerous horn pearls with abnormal keratinization in the epidermis and dermis ( Fig. 2). The second tumor was a 1.0‐cm‐sized, deep‐seated, firm nodule. The skin biopsy from this nodule showed the same findings as those of the larger tumor. In the thickened skin of the forehead, diffuse mucinous thickening of the dermis was remarkable, which exhibited a positive reaction to alcian blue stain at pH 2.5, and hypertrophied sebaceous glands were found in the dermis. 2 Photomicrograph of biopsy specimen from the ulcerative tumor on the nasal dorsum shows typical features of well‐differentiated squamous cell carcinoma Laboratory examinations showed findings of severe iron deficiency anemia. In serum electrophoresis, there was albumin/globulin inversion. 1Bone studies showed thoracic scoliosis and cortical thickening of the long bones. There were peptic ulcers on the gastric pylorus and bulb of duodenum from gastroduodenoscopy. The chromosomal analysis, which is constitutional or stressed by UVB (3.2–19.2 J/m2 ), diepoxybutane (DEB, 0.1 μg/mL), 2and mitomycin (MMC, 0.1 μg/mL), showed neither numerical nor structural aberrations; however, karyotyping in synchronized lymphocyte culture with methotrexate treatment (final concentration, 10–7 m) showed 10 breakage points at five cells from 20 lymphocytes ( Fig....
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