PACHYDERMOPERIOSTOSIS WITH CUTANEOUS SQUAMOUS-CELL CARCINOMAS

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 thick ening of the skin on the face and scalp, which had exaggerated progres sively to produce deep wrinklings with seborrhea (Fig. 1). He had prof use perspiration of the face, hands, feet, acid the upper aspects of t he trunk. Three years earlier, he developed a single nodule on the nos e, 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 o ld, had similar lesions of pachydermia and cutis verticis gyrata with digital dubbings. His two sisters had no skin lesions, but suffered fr om congenital cyanotic heart disease and spinal deformity, respectivel y. Human leukocyte antigen (HLA) typings between the two affected brot hers revealed almost identical HLA-A, HLA-B, acid HLA-C class I antige ns. On physical examination, the patient was a short, underdeveloped m an with a height of 153 cm and weight of 44 kg, The larger tumor on th e nose was 3.0 x 3.5 cm in diameter, producing a perforated tunnel con necting to the nasal cavity, Facial follicular papules, blepharoptosis , palmoplantar blanching, plantar thickening with fissures, and swelli ng of the knees and ankles were also observed. Histopathologic finding s of the main tumor revealed pleomorphic, atypical squamous cells with mixed inflammatory cells, and numerous horn pearls with abnormal kera tinization 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 no dule showed the same findings as those of the larger tumor. In the thi ckened skin of the forehead, diffuse mucinous thickening of the dermis was remarkable, which exhibited a positive reaction to alcian blue st ain at pH 2.5, and hypertrophied sebaceous glands were found in the de rmis. Laboratory examinations showed findings of severe iron deficienc y anemia, In serum electrophoresis, there was albumin/globulin inversi on.(1) Bone 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, w hich is constitutional or stressed by UVB (3.2-19.2 J/m(2)), diepoxybu tane (DEB, 0.1 mu g/mL),(2) and mitomycin (MMC, 0.1 mu g/mL), showed n either numerical nor structural aberrations; however, karyotyping in s ynchronized lymphocyte culture with methotrexate treatment (final conc entration, 10(-7) M) showed 10 breakage points at five cells from 20 l ymphocytes (Fig. 3). Electron microscopic study and tissue cultures se arching for morphologic abnormality of the fibroblasts near the nodule s showed no significant specific findings. For the reduction of the ul cerative tumor before surgical intervention, the patient was irradiate d with an electron beam over 7 weeks (total dose, 7000 cGy). Also, the glabellar nodule was removed and facial rhytidectomy was performed. W ith a recommendation to avoid sunlight, no lesions had developed durin g follow-up for 1 year.