| A 27-year-old man was seen with multiple, small, shiny papules on his shoulders, upper arms, and trunk, and hyperpigmented violaceous plaques on his feet. The former was diagnosed as generalized lichen nitidus and the latter, as lichen planus. It is not likely that the coexistence of the two diseases in this patient is a fortuitous one, since generalized lichen nitidus is a very rare condition. The association of lichen nitidus and lichen planus suggests that lichen nitidus is closely related to lichen planus and that the two diseases may be different manifestations of essentially the same pathogenetic process. ( info) |
562/719. Coexistence of subepidermal calcified nodule and keratosis punctata in a patient with hyperhidrosis. A 47-year-old female with hyperhidrosis developed multiple subepidermal calcified nodules and keratosis punctata on her palms. Although calcification was not detected on eccrine sweat glands around the calcified mass by histologic examination, it was supposed that the eccrine sweat glands may have played a role in inducing these two lesions in our case. ( info) |
563/719. Localized multinucleate distal subungual keratosis. Isolated distal subungual keratosis refers to a clinical monomorphic lesion involving one digit, but presenting different histological patterns. Among these, in four similar cases, we have observed the presence of multinucleate cells in localized distal subungual keratosis without an intervening granular layer, and without any clinical evidence of Darier's disease. To our knowledge, this constellation of anatomical and clinical features has not been reported previously. ( info) |
564/719. Familial elastosis perforans serpiginosa. BACKGROUND--Elastosis perforans serpiginosa (EPS) is an uncommon skin disease characterized by transepidermal elimination of abnormal elastic fibers. The disease is frequently associated with congenital connective tissue disorders or Down's syndrome. The pathogenesis of EPS is still unclear. There are a few reports in the literature about a familial occurrence of EPS in which different modes of inheritance are suggested. To support the hypothesis of a congenital origin of the disease, we have studied another family with EPS. OBSERVATIONS--In this study, we describe a family in which two sisters and a brother were affected by EPS. The father and three paternal uncles were most probably affected by the same disease. There were no signs of other congenital connective tissue disease in the family members. CONCLUSION--An autosomal dominant mode of inheritance with variable expression of EPS is suggested. ( info) |
| A large family with dyskeratosis congenita is reported. There were nine affected males, the findings in five of who are reported. We review 46 cases selected from the literature. The cardinal findings of this inherited multisystem disorder are delineated from these 51 cases. The complications of the disease, including opportunistic infection, are described. The parallel is made between dyskeratosis congenita and Fanconi's anaemia. The X-linked transmission of dyskeratosis congenita is confirmed by the family pedigree in this report. From the analysis of the families reported in the literature, there appears to be genetic heterogeneity in this disease. This study in our family indicates absence of close linkage between the Xga locus and the X-linked recessive form of dyskeratosis congenita. ( info) |
566/719. Recessive ichthyosis congenita type IV. Two patients suffering from ichthyosis with unusual ultrastructural features were examined. One was a 14-year-old boy with ichthyotic skin since birth. The ichthyosis was initially erythrodermic and later presented as follicular hyperkeratosis. The other patient was an ichthyotic child who died 2 days after birth of respiratory distress syndrome. Although apparently not consanguineous, both families came from the same relatively isolated rural area and autosomal recessive inheritance seems likely. light microscopy did not yield diagnostic features, but the ultrastructural findings in the granular and horny cells showed diagnostic lamellar membrane packages. Identical ultrastructural features have previously been published in one prematurely born baby who died soon after birth and once in a prenatal diagnosis in the same family; the disease was termed "ichthyosis congenita type IV". ( info) |
567/719. Hyperkeratosis and atypical proliferation appearing in the lining epithelium of a radicular cyst. Report of a case. It is widely accepted that radicular cysts (apical periodontal cysts) are commonly lined with stratified squamous epithelium without keratin formation. However, we identified a case of maxillary radicular cyst with remarkable keratinization and atypical proliferation of the lining epithelium among the 207 radicular cyst cases seen at our department. Histopathological and clinical findings of these cysts were reviewed. ( info) |
568/719. Isolated dyskeratotic acanthoma. A variant of isolated epidermolytic acanthoma. Disorders affecting the maturation of the epidermis are regarded as incidental findings in normal skin and otherwise unrelated benign lesions. These include epidermolytic hyperkeratosis, focal acantholytic dyskeratosis, and pagetoid dyskeratosis. The former two entities also occur as primary pathologic lesions. We report a hyperkeratotic lesion with a specific histologic pattern consisting of dyskeratotic cells throughout the epidermis and a parakeratotic horn, with large, rounded cells at all levels of the stratum corneum. Because we believe it to be a variant of the solitary, acquired lesions characterized by abnormal epidermal maturation, such as epidermolytic acanthomas, we suggest the term "dyskeratotic acanthoma" for this lesion. ( info) |
569/719. Pseudo-fibrokeratoma of the nail apparatus with melanocytic pigmentation: a clue for diagnosing bowen's disease. bowen's disease of the nail apparatus is a protean condition where pseudo-fibrokeratoma associated with melanocytic pigmentation was the clue leading to the clinical diagnosis. Migration of melanocytes into the superficial layers of the matrix epithelium may be associated with the extension of the epidermal tumoral process, without necessitating a real melanocytic hyperplasia. ( info) |
570/719. Giant acquired fibrokeratoma of the nail bed. A 41-year-old Japanese woman presented with a red, elastically hard, hook-shaped hyperkeratotic large tumor on her right third toe, which originated from the nail bed. The final diagnosis was acquired fibrokeratoma. Our case is remarkable, because acquired fibrokeratoma is usually relatively small and does not involve the nails. ( info) |