RESUMEN
BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease of cornification which presents as severe thickening of the palms and soles with prominent epidermolytic hyperkeratosis pathologically. Recent studies have shown that EPPK is caused by mutations in the keratin 9 (K9) gene which is expressed essentially only in the palms and soles. Previously, We have reported that patients in one large pedigree of EPPK have an R162W substitution in the K9 protein. In this pedigree, two women whose husbands are both EPPK patients had become pregnant. OBJECTIVE: Since both women were concerned about this genetic disorder, we have performed prenatal diagnosis by biopsy analysis of chorionic villi tissue. METHODS: Chorionic villi biopsies were performed at 12 weeks gestation. Since the skin lesions are strictly confined to the palms and soles of the babies, the prenatal diagnosis of EPPK by ultrastructural analysis of fetal skin biopsy or amniotic fluid cells is highly problematic. Polymerase chain reaction amplification of specific allele (PASA) assay and direct DNA sequencing analyses were performed whether the fetuses carried mutant allele of K9 gene. RESULTS: PASA assay and direct DNA sequencing analyses showed that one fetus was normal, but the other fetus carried the abnormal allele. Subsequently, the mother of the unaffected fetus delivered a normal child, but the mother of the affected fetus terminated the pregnancy. CONCLUSION: We describe the analysis of the K9 mutation in the two fetuses at risk for EPPK. We believe that this is the first report of prenatal diagnosis for EPPK. But, we have to think about the ethical problems before we decide to perform the prenatal diagnosis of any kind of skin diseases.
Asunto(s)
Niño , Femenino , Humanos , Embarazo , Alelos , Líquido Amniótico , Biopsia , Vellosidades Coriónicas , Muestra de la Vellosidad Coriónica , Feto , Hiperqueratosis Epidermolítica , Queratina-9 , Queratodermia Palmoplantar Epidermolítica , Madres , Linaje , Reacción en Cadena de la Polimerasa , Diagnóstico Prenatal , Análisis de Secuencia de ADN , Piel , Enfermedades de la Piel , EspososRESUMEN
We present a case of white superficial onychomycosis(WSO) caused by Microsporum canis in a 15-year-old girl. She complained whitish patches and irregularly pitted surface of the right thumb nail, clinically suggesting WSO. On the mycologic studies, the nail lesion was diagnosed as WSO caused by Microsporum canis.
Asunto(s)
Adolescente , Femenino , Humanos , Microsporum , Onicomicosis , PulgarRESUMEN
We report two cases of cutaneous metastases originating from esophageal carcinoma. Case 1, about 0.5cm sized brownish round keratotic papule was detected 1 month ago on the left fifth finger tip in a 70-year-old man. Case 2, about 1.5 x 1.2cm sized ivory oval flat topped elevated nodule was detected 1 month ago on the lower lip in a 60-year-old man. Histologic examination of case 1 showed that dilated lymphatics contained tumor nests, some of which showed central necrosis. Case 2 showed tumor cell infiltration from upper dermis to mid dermis. Regardless of chemotherapy, both patients died after two and three months from the appearance of cutaneous lesions respectively.
Asunto(s)
Anciano , Humanos , Persona de Mediana Edad , Dermis , Quimioterapia , Dedos , Labio , Necrosis , Metástasis de la NeoplasiaRESUMEN
We report a case of tuberculosis verrucosa cutis in a 35-year-old male patient who presented itchy verrucous plaque over both buttocks. Skin biopsy revealed hyperkeratosis, parakeratosis, and irregular acanthosis in the epidremis, and inflammatory infiltration and noncaseating tuberculoid granulomas in the dermis. Several AFB-positive bacilli were detected. He was treated with isoniazid, rifampicin, ethambutol, and pyrazinamide for 4 months till now and the verrucous skin lesions have been markedly improved.
Asunto(s)
Adulto , Humanos , Masculino , Biopsia , Nalgas , Dermis , Etambutol , Granuloma , Isoniazida , Paraqueratosis , Pirazinamida , Rifampin , Piel , TuberculosisRESUMEN
We report a case of primary cutaneous mucinous adenocarcinotna in a 64-year-old female. The tumor was about 2cm in size, forminga round dome-shaped alopecic scalp mass which had gradually increased in size over about 5 years, Histalogic examination revealed that the tumor was divided into numerous compartments by strands of fibrous tissue. In each compartment, abundant amounts of pale-staining mucin surrounded nests or cords of moderately anaplastic epithelial cells. We couldn't find any evidence of internal neoplasms as a source of metastasis. We resected the tumor with approximately a 1 cm margin and then performed a split thickness skin graft.