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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-year-old man presents with linear verrucous epidermal naevus since birth. A biopsy done showed histological features of epidermolytic hyperkeratosis. Patients with epidermolytic epidermal naevi can give rise to children with a rare but serious condition known as congenital bullous icthyosiform erythroderma. Recently, keratin mutations have been described in both conditions and the relationship between the two can be explained using the concept of genetic mosaicism.
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PMID:Linear epidermolytic epidermal naevus--a case report. 971 29

Keratins are intermediate filaments of epithelial cells. Mutations in keratin genes expressed in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperkeratosis. We examined the role of keratin 4 (K4) in maintaining the integrity of internal epithelial linings by using gene targeting to generate mice containing a null mutation in the epithelial K4 gene. Homozygous mice that do not express K4 develop a spectrum of phenotypes that affect several organs which express K4 including the esophagus, tongue, and cornea. The cellular phenotypes include basal hyperplasia, lack of maturation, hyperkeratosis, atypical nuclei, perinuclear clearing, and cell degeneration. These results are consistent with the notion that K4 is required for internal epithelial cell integrity. As mutations in K4 in humans lead to a disorder called white sponge nevus, the K4-deficient mice may serve as models for white sponge nevus and for understanding the role of K4 in cellular proliferation and differentiation.
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PMID:Mouse keratin 4 is necessary for internal epithelial integrity. 972 4

Nevus cell aggregates in lymph nodes are uncommon. This benign phenomenon may be difficult to differentiate from metastatic neoplasia. We report the case of a 56-year-old patient who underwent breast biopsy, followed by radical mastectomy including lymphadenectomy. Histological examination revealed solid cell aggregates as foreign tissue in the capsule of 1 of 11 identified lymph nodes devoid of any keratin immunoreaction. Strong immunohistological staining for the S-100 protein confirmed the diagnosis of nevus cell aggregates.
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PMID:[Nevus cell aggregates in axillary lymph nodes in simultaneous mucinous breast carcinoma]. 974 16

The presence of eosinophilic globules has been described as a helpful sign for the histologic differentiation of Spitz's nevus from malignant melanoma. The origin of these bodies is not clear, and they have been likened to Civatte or colloid bodies of lichen planus. This would suggest that they might originate from degenerating keratinocytes or melanocytes or both. These eosinophilic globules and the colloid bodies of lichen planus have been reported to be similar in that they both stain positively for type IV collagen and laminin. These previous reports have failed to include, or have not emphasized, the staining for keratin that separates these two bodies. We stained 10 spindle cell and epithelial cell (S&E) nevi for S-100 protein, keratin, vimentin, type IV collagen, and laminin. In all 10 cases of S&E nevi, the eosinophilic globules showed a positive reaction for type IV collagen and laminin and a negative reaction for keratin, S100 protein, and vimentin, unlike the colloid bodies of lichen planus, which showed a negative reaction for type IV collagen and laminin and also a strong positive reaction for keratin. These results suggest that the eosinophilic globules of Spitz's nevi are basement membrane material, perhaps synthesized by either basal cells, melanocytes or both, and are not degenerated basal cells or melanocytes.
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PMID:Eosinophilic globules in spindle cell and epithelioid cell nevi: composition and possible origin. 985 49

Melanoma is the most common malignant tumor in which melanin synthesis occurs, although other nonmelanocytic tumors synthesize melanin or contain nonneoplastic melanocytes. We present two cases of infiltrating pigmented squamous cell carcinoma of the skin and review the clinical, morphologic, and ultrastructural features. Melanin was found in epithelial tumor cells as well as in macrophages and dendritic melanocytes. Interestingly, one of the neoplasms was associated with an adjacent melanocytic nevus and pigmented solar keratosis. Immunohistochemical analysis showed that neoplastic cells stained for keratin and melanin-filled dendritic cells were found to be S-100 protein and HMB45 positive. A careless examination of the immunohistochemical stains for S-100 protein and HMB45 could cause the misdiagnosis of melanoma, a neoplasm that has a more ominous outlook.
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PMID:Pigmented squamous cell carcinoma of the skin: report of two cases and review of the literature. 985 53

Keratin intermediate filaments are expressed in specific type I/type II pairs in the stage of differentiation of keratinocytes. The mutations in the keratin genes expressed in the epidermis are etiologically responsible for several epidermal genetic skin diseases, such as epidermolysis bullosa simplex, epidermolytic hyperkeratosis (EHK), ichthyosis bullosa of Siemens, palmoplantar keratoderma, pachyonchia congenita and white sponge nevus. The mutations of keratins 1/10 which are expressed in spinous and granular layers are confirmed to cause EHK. There are several trials to correlate between the clinical phenotypes and sites of mutations of the keratin genes. One of these is that EHK is divided into two groups: the palms and soles involvement (PS) group and the non-palms and soles (NPS) group. So far the PS group had the mutations in the keratin 1 and the NPS group in keratin 10. Most of the mutations of the NPS group were reported in the beginning of the 1A rod domain and over 2/3 of the mutations in the 1A rod domain were the base pair substitution of arginine. Here we find two different mutations in two unrelated Korean kindreds classified as NPS group-R156C and R156H-in the 1A rod domain of keratin 10. Our results are compatible with the above classification and suggest that the arginine in the beginning of the 1A rod domain is the hot spot for the mutation of the keratin 10 gene.
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PMID:Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. 1009 4

Aggregates of benign nevus cells occurring in lymph nodes are a well-described incidental finding. Nevus cell aggregates (NCAs) can mimic foci of metastatic carcinoma or other disease processes, so the surgical pathologist should be familiar with this lesion. The purpose of this report is to describe the potential diagnostic difficulties created by benign NCAs within the thymus of a 32-year-old man with dysplastic nevus syndrome and malignant melanoma involving mediastinal lymph nodes and the right lung. Morphologically, the NCAs in this case elicited the differential diagnoses of metastatic melanoma and thymoma. Immunohistochemical studies helped to establish the correct diagnosis by demonstrating reactivity for S-100 protein and negative staining for keratin and HMB-45. Unlike malignant melanomas, NCAs show no p53 protein immunoreactivity, and low proliferative activity was detected by Ki-67 antigen immunostaining. Although melanocytic cells were rarely reported in thymic neoplasms, we are not aware of any previous reports of NCAs occurring in the normal thymus.
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PMID:Benign nevus cell aggregates in the thymus: a case report. 1010 20

Keratins are obligate heterodimer proteins that form the intermediate filament cytoskeleton of all epithelial cells. Keratins are tissue and differentiation specific and are expressed in pairs of types I and II proteins. The spectrum of inherited human keratin diseases has steadily increased since the causative role of mutations in the basal keratinocyte keratins 5 and 14 in epidermolysis bullosa simplex (EBS) was first reported in 1991. At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, diffuse and focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita and monilethrix. Mutations in extracutaneous keratins have been reported in oral white sponge naevus and Meesmann's corneal dystrophy. New subtleties of phenotype-genotype correlation are emerging within the keratin diseases with widely varying clinical presentations attributable to similar mutations within the same keratin. Mutations in keratin-associated proteins have recently been reported for the first time. This article reviews clinical, ultrastructural and molecular aspects of all the keratin diseases described to date and delineates potential future areas of research in this field.
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PMID:Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. 1035 17

White lesions usually contain an increased amount of keratin. Some are rare congenital conditions, such as white sponge naevus and dyskeratosis congenita, unlikely to be seen in general dental practice. Inflammatory causes include candidosis and hairy leukoplakia, both now common in HIV disease. Non-infective causes include the common lesion of lichen planus, and the less common condition lupus erythematosus. Neoplastic and possibly preneoplastic causes include carcinoma, keratoses and leukoplakia. This article discusses the more common causes of oral white lesions. The first article in this series presented several general observations on diagnosis and treatment which should be borne in mind in relation to this article.
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PMID:Orofacial disease: update for the dental clinical team: 3. White lesions. 1052 53

White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and "spongy" plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have already been demonstrated to be responsible for WSN; the identification of new keratin mutations in a stratified squamous epithelia closely related to epidermis is of relevance for the understanding of the biochemistry of intermediate filaments, and for genotype phenotype correlations. In this study we investigated a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the helix initiation motif of the 1A alpha helical domain of K4. We report this new K4 gene mutation and describe an amino acid insertion, in the 1A domain, responsible for a keratin disease.
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PMID:A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. 1065 3


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