Two cases of xeroderma pigmentosum in brothers without complicated by malignant changes were presented. The clinical and histopathological studies revealed characteristic features of the disease and literatures reviewed.
Humans ; Ichthyosis* ; Siblings* ; Xeroderma Pigmentosum*

Two cases of xeroderma pigmentosum in brothers without complicated by malignant changes were presented. The clinical and histopathological studies revealed characteristic features of the disease and literatures reviewed.
Humans ; Ichthyosis* ; Siblings* ; Xeroderma Pigmentosum*

No abstract available.
Diagnosis* ; DNA* ; Ichthyosis* ; Xeroderma Pigmentosum*

No abstract available
DNA Repair* ; DNA* ; Endonucleases* ; Skin Neoplasms* ; Skin* ; Xeroderma Pigmentosum

Xeroderma Pigmentosum is a hereditary disorder characterized sunlight sensitivity multiple cutaneous malignancies, usually basal and squamous cell carcinoma and frequent ocular complication. The auther has presented recently treated one case of limbal squamous cell carcinoma associated with Xeroderma Pigmentosum in 15 years old male. It was reviewed clinically with the literature.
Adolescent ; Carcinoma, Squamous Cell* ; Humans ; Ichthyosis* ; Male ; Sunlight ; Xeroderma Pigmentosum*

Malignant fibrous histiocytoma (MFH) is a pleomorphic sarcoma which most frequently arises in the soft tissue. About two-thirds of the tumors are located within skeletal muscle; relatively few cases have been reported arising in the skin. The micromorphology of the tumor is characterized by storiform histiocyte-like cells, malignant giant cells and bizzare mitoses. We report here a case of cutaneous MFH developed in xeroderma pigmentosum occurred in a middle-aged man.
Giant Cells ; Histiocytoma, Malignant Fibrous* ; Mitosis ; Muscle, Skeletal ; Sarcoma ; Skin ; Xeroderma Pigmentosum

Xeroderma pigmentosum is autosomal recessive, degenerative disease generated by abnormal repair of DNA damaged by ultraviolet radiation and environmental mutagens. DeSanctis-Cacchione syndrome is the most severe form of xeroderma pigmentosum variant. This syndrome is characterized with microcephaly, progressive mental retardation and deterioration, retarded growth and sexual development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old female patient, which fits into Desanctis-Cacchione syndrome clinically.
Adolescent ; Cerebellar Ataxia ; Deafness ; DNA ; Female ; Humans ; Intellectual Disability ; Microcephaly ; Mutagens ; Quadriplegia ; Sexual Development ; Xeroderma Pigmentosum

Xeroderma pigmentosum, a rare, genetically determined dermatosis, is often cornplicated by malignant chagnes of various types-most commonly, basal-cell epithelioma, squamous cell epithelioma, less frequently malignant meIanoma, keratoacanthoma, fibrosarcoma, and endothelioma have been reported. In Korea, no case has ever been reported in literature except four cases at a symposium for dermatology, two of them complicated by basal-cell epithelioma, and the others by squamous cell epithelioma. This case reported was complicated by squamous cell epithelioma. As one of the anticancer treatments, especially for skin cancer, Bleomycin is, now, drawing the attention for its high therapeutic index with only few side effects. For this case, we injected Rleomycin 15mg at once, twice a week, for 8 weeks, So total injection was 16 times and 240mg of Bleomycin was given in total. While this amount given for this case was not enough for the complete treatment of squamous cell epithelioma, we got the following results: 1. Clinically, the ulcerated lesion of the cancer on the right ala nasi had shrunken in size with reepithelialization at the margin showing clear surface, and 2. microscopically, the atypical cancer cell masses and individual cell keratinizations had been decreased in size and in number, and less remarkable comparing to those in untreated stage at his first visit to the hospital.
Bleomycin* ; Carcinoma* ; Dermatology ; Fibrosarcoma ; Keratoacanthoma ; Korea ; Skin Diseases ; Skin Neoplasms ; Ulcer ; Xeroderma Pigmentosum

Xeroderma pigmentosurn is a photosensitive hereditary disorder and especially rare in Korea. A 30-year old male patient had been suffered from walnut sized tumor and several ulcerated papules on the face, and scattered brownish macules on the sun-exposed area. Clinical features and histopathologic findings were consistent with malignant malanoma and basal cell epithelioma developing in a xeroderma pigmentosum respectively. Malignant melanoma was surgically excised.
Adult ; Carcinoma, Basal Cell* ; Humans ; Ichthyosis* ; Juglans ; Korea ; Male ; Melanoma* ; Ulcer ; Xeroderma Pigmentosum*

No abstract available.
DNA Repair* ; DNA* ; Ichthyosis* ; Skin Neoplasms* ; Skin* ; Ultraviolet Rays* ; Xeroderma Pigmentosum*