摘要:

We describe the third case of congenital reticular ichthyosiform erythroderma (CRIE), a rare inherited keratinization disorder, the second with the peculiar reticulate skin pattern. The same case had been previously described and defined, for the clinical appearance, as ichthyosis ‘en confettis’. An 18-year-old girl was born with the clinical features of an erythrodermic lamellar ichthyosis. Patches of normal skin enclosed by erythematous-ichthyotic skin in a reticular arrangement appeared on the trunk at the age of 10 years, and they enlarged slowly during 6 years. The treatment with etretinate, started 2 years ago, further increased this process. Another peculiar clinical feature is a remarkable hypertrichosis. At the ultrastructural level, perinuclear deposits of filamentous material in vacuolized keratinocytes of the upper epidermis, pathognomonic for CRIE, were demonstrated. This suggests that CRIE and ichthyosis ‘en confettis’ are the same disorder. In addition the peculiar clinical presentation of this rare genodermatosis develops only during late childhood and puberty. The identification of three sporadic cases only leaves the problem of inheritance still u

ISSN:1018-8665    

DOI:10.1159/000247084

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Prenatal diagnosis of epidermolysis bullosa (EB) using fetal skin biopsy specimens has been successfully performed in Europe and America, but this technique has not previously been attempted in Asia. For the first time in Asia, we attempted to make a prenatal diagnosis of EB in a high-risk fetus by fetal skin biopsy. A skin biopsy was obtained from the fetus at risk of gravis type junctional epidermolysis bullosa of Herlitz. The biopsy specimen was studied by electron microscopy and immunohistochemistry using various monoclonal antibodies against the epidermal basement membrane zone (BMZ). There were no ultrastructural abnormalities in the BMZ, including the hemidesmosomes. Indirect immunofluorescence showed normal expression of GB3 antigen. The pregnancy was continued, and a normal, healthy infant was born. The prenatal diagnosis of epidermolysis bullosa is now available in Tokyo. This clinical diagnostic service is available to families from various parts of Asia.

ISSN:1018-8665    

DOI:10.1159/000247085

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

We describe the case of a 59-year-old woman who had suffered from a typical Urbach-Wiethe disease since childhood and who complains of progressive mouth and ocular dryness since the age of 54 years. Xerostomia was severe with very poor salivation and was associated with a slight keratoconjunctivitis sicca. A specific lipoid proteinosis was evidenced in salivary glands (lower lip biopsy) with a PAS-positive hyalin-like deposit around vessels, capillaries and salivary gland canaliculi. An ultrastructural study showed the typical aspect of multilamination of the basal lamina of capillary vessels. Dysphonia and hoarseness are commonly found in Urbach-Wiethe disease, but, to our knowledge, a specific xerostomia has never been reported.

ISSN:1018-8665    

DOI:10.1159/000247086

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

A 54-year-old man had lymph node swelling and skin nodules. Neoplastic cells with pleomorphic nuclei, prominent eosinophilic nucleoli and abundant cytoplasm were present in the lymph node sinuses and around the dermal appendages. Neoplastic cells in the lymph nodes expressed Ber-H2 (CD30)+/KP1 (CD68)+/MAC387–/LN-5+. Those in the skin nodules expressed Ber-H2+/KP1–/MAC387+/LN-5–. These findings suggest that he had Ki-1-positive anaplastic large cell lymphoma (ALCL) with different phenotypes in lymph nodes and skin nodules. The discrepancy among KP1, MAC387 and LN-5 reactivities may represent the concurrent occurrence of ALCL and lymphomatoid papulosis. However, the possibility cannot be ruled out that ALCL developed first in the lymph nodes and then metastasized to the

ISSN:1018-8665    

DOI:10.1159/000247087

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

A case of malignant hidroacanthoma simplex of the anterior aspect of the right ankle in a 75-year-old man is reported. A specimen obtained in 1987 showed the features of benign hidroacanthoma simplex, whereas that taken in 1991 revealed malignant transformation. We performed immunohistochemical studies on these two specimens, and they suggest this tumor derives from the outer cells of intraepidermal ducts. The proliferating cell nuclear antigen labelling index and argyrophil nucleolar organizer regions of these two specimens were also compared and correlated with malignant transformation.

ISSN:1018-8665    

DOI:10.1159/000247088

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

A case of neurocutaneous melanosis with malignant leptomeningeal melanoma is reported in a 50-year-old white woman. The case is exceptional as regards the late onset of symptoms and death. Although the association of extracutaneous melanomas with cuteaneous pigmented lesions is rare, dermatologists must be aware of their presence.

ISSN:1018-8665    

DOI:10.1159/000247089

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

A 66-year-old Japanese woman had a pigmented macule spreading from the internal aspect of the cheek to the vermilion border and perioral skin. Histology was that of in situ malignant melanoma. This case appears to be unique as it implies a longer period of radial growth than is usually observed in malignant melanoma of the oral mucosa.

ISSN:1018-8665    

DOI:10.1159/000247090

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

We present a case of skin metastasis from follicular thyroid carcinoma which developed on the scalp of a 72-year-old man. The lesion was noticed 1 month after a surgical excision of the primary thyroid carcinoma and gradually enlarged during the past 11 months. A biopsy from the nodule showed mostly well-differentiated thyriod follicular structures with colloid material. Tumor cells showed mild variation of nuclear size and shape in almost all areas. We performed immunohistochemistry using antithyroglobulin antibody, which established the diagnosis of a metastatic lesion from thyroid follicular carcinoma. Total thyroidectomy and I radiotherapy were performed. No further metastasis has been discovered during the last 18 months.

ISSN:1018-8665    

DOI:10.1159/000247091

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Congenital atrichia may occur isolated or with associated defects. The isolated variant is especially uncommon. Sporadic and familial cases have been rarely reported. We present a large inbred kindred from Oman where 22 affected members with this disorder were found over six generations. The male-to-female ratio was 1:1.4. No associated ectodermal or other defects were noted. A typical autosomal recessive mode of inheritance was documented. Though inbreeding was high, anticipated quasidominance was observed only once.

ISSN:1018-8665    

DOI:10.1159/000247092

出版商:S. Karger AG    

年代:1994

数据来源: Karger

ISSN:1018-8665    

DOI:10.1159/000247093

出版商:S. Karger AG    

年代:1994

数据来源: Karger