Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited genetic disorders characterized by blistering due to mechanical- stress-induced degeneration of basal epiderrnal cells. Recently, it was discovered that EBS is induced by keratin 5 and 14 gene mutations. Weber Cockayne (W-C) EBS is the mildest type, with blistering concentrates primarily on palar and plantar regions, and basal cell cytolysis by keratin filament perturbations is present. Herein we report a case of W-C EBS with its ultrastructural findings. Electron microscopy showed cytolysis and separation of the basal epidermal cells, mainly at the subnuclear cytoplasm. The cyto- plasm of basal cells showed edema, loosening and intact rnitochondria. Besides the cytoplasmic changes, the nucleus also showed lytic degeneration. Characteristically, dense condensation of tonofilarnent was observed, which suggests that W-C EBS is. also a disorder of keratin.
Blister ; Cytoplasm ; Edema ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Keratin-5 ; Microscopy, Electron

Basaloid squamous cell carcinoma (BSCC) is a rare malignancy, which has a predilection for the upper aerodigestive tract. A 78-year-old man presented with solitary erythematous nodule on the right neck. The tumor mass was rapidly enlarged for last 5 months and firmly attached to deep soft tissue. Neck computed tomography showed enhanced density in vallecular region and enlarged cervical lymph nodes. Wide excision of the tongue base with modified lymph node dissection, including the solitary erythematous nodule, was performed. Histopathologically, the tongue base and cutaneous lesion displayed closely packed basaloid cells with comedonecrosis and squamous eddy formation. The cells demonstrate a high nuclear to cytoplasmic ratio and abundant mitotic figures. Staining for p63, cytokeratin 5 (CK5) demonstrated diffuse uptake within the tumor and CD56 stain was negative. We diagnosed this case as the first Korean case of metastatic cutaneous BSCC.
Aged ; Carcinoma, Squamous Cell* ; Cytoplasm ; Humans ; Keratin-5 ; Lymph Node Excision ; Lymph Nodes ; Neck ; Tongue

Epidermolysis bullosa simplex (EBS), characterized by a cleavage plane through basal keratinocytes, is caused by a mutation of the genes encoding keratin 5 and 14. It is often regarded as the least severe form of Epidermolysis bullosa. In 1886, Koebner described the seasonal blisterings predominantly on the palms and soles but occurring on the other sites of friction with clothes as well. His name is often used to describe EBS with the generalized blisterings. We have experienced a case of Koebner variant of EBS in a two-day old male neonate whose father had the same EBS. Hereby, we report his clinical, histopathological findings with a brief review of the literature.
Blister ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Fathers ; Friction ; Humans ; Infant, Newborn ; Keratin-5 ; Keratinocytes ; Male ; Seasons

Epidermolysis bullosa simplex (EBS), an inherited genetic disorder, is most often caused by a dominant-negative mutation in either the keratin 5 (KRT5) or the keratin 14 (KRT14) gene. These keratin mutants result in a weakened cytoskeleton and cause extensive cytolysis. It is important to analyze the KRT5 or KRT14 genes of the patient and their family members by mutational analysis in order to identify genetic defects as well as the need for genetic counseling. In this study, we present a 5-year-old Korean boy who had been developing blisters and erosions on the palms of his hands and soles of his feet since infancy. In addition, while his younger sister and father showed similar clinical manifestation, his mother did not. The patient was diagnosed with EBS based on clinical manifestation, which is characterized by the presence of blisters restricted to the palms and soles, histological findings, and mutational analysis. Mutational analysis of the patient's DNA revealed a thymine-to-cytosine transition at codon 608 in the KRT-5 gene, resulting in a leucine-to-proline substitution in the keratin 5 protein. The same mutation was identified in the paternal, but not maternal, DNA. Here, we report a case of Weber-Cockayne type EBS with vesicles and bullae restricted to the palms and soles with a novel, paternally inherited mutation in KRT5 gene (exon2, c.608T>C).
Blister ; Child, Preschool ; Codon ; Cytoskeleton ; DNA ; Epidermolysis Bullosa Simplex* ; Fathers ; Foot ; Genetic Counseling ; Hand ; Humans ; Keratin-14 ; Keratin-5* ; Male ; Mothers ; Siblings

Breast ; pathology ; Carcinoma, Intraductal, Noninfiltrating ; diagnosis ; metabolism ; pathology ; Female ; Humans ; Hyperplasia ; metabolism ; pathology ; Keratin-5 ; metabolism ; Keratin-6 ; metabolism ; Precancerous Conditions ; diagnosis ; metabolism ; pathology ; Stem Cells ; metabolism ; pathology

OBJECTIVETo identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.

METHODSGenomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.

RESULTSBy DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.

CONCLUSIONMutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.

Base Sequence ; DNA Mutational Analysis ; Epidermolysis Bullosa Simplex ; genetics ; pathology ; Exons ; Female ; Humans ; Hyperpigmentation ; genetics ; pathology ; Keratin-14 ; genetics ; Keratin-5 ; genetics ; Male ; Mutation ; Pedigree ; Sequence Analysis, DNA

Acanthoma ; metabolism ; pathology ; surgery ; Adenoma ; metabolism ; pathology ; Adult ; Aged ; Diagnosis, Differential ; Female ; Humans ; Keratin-14 ; metabolism ; Keratin-5 ; metabolism ; Keratin-6 ; metabolism ; Keratosis ; metabolism ; pathology ; surgery ; Male ; Poroma ; classification ; metabolism ; pathology ; surgery ; Sweat Gland Neoplasms ; classification ; metabolism ; pathology ; surgery

OBJECTIVETo investigate the expression of high-molecular-weight keratins CK5/6, CK14, estrogen receptor (ER) and progesterone receptor (PR) in differential diagnosis of simple ductal hyperplasia (UDH), atypical ductal hyperplasia (ADH) and low-grade ductal carcinoma in situ (low-grade DCIS) .

METHODSThe clinicopathological data of twenty cases of atypical ductal epithelial hyperplasia (ADH) with focal cancerization changed into low-grade DCIS diagnosed at Tianjin Medical University Cancer Institute and Hospital between January 2013 and February 2014 were reviewed and analyzed. The expressions of CK5/6, CK14, ER and PR were detected by immunohistochemistry.

RESULTSPositive expressions of CK5/6 and CK14 were seen in UDH showing a mosaic pattern, while negative expression in ADH and low-grade DCIS. In addition, CK5/6 and CK14 were positively expressed in the myoepithelial cells of UDH, ADH and low-grade DCIS. Positive expressions of ER and PR were observed in UDH, ADH and low-grade DCIS. But they presented diffuse and homogeneous strong positive expression in ADH and variable positive expression in UDH.

CONCLUSIONIn the intraductal proliferative lesions of the breast, the use of combined detection of the expression of CK5/6, CK14, ER and PR is of practical significance in the differential diagnosis of UDH, ADH and low-grade DCIS.

Breast ; metabolism ; pathology ; Breast Neoplasms ; diagnosis ; metabolism ; Carcinoma, Ductal, Breast ; diagnosis ; metabolism ; Carcinoma, Intraductal, Noninfiltrating ; diagnosis ; metabolism ; Diagnosis, Differential ; Female ; Humans ; Hyperplasia ; diagnosis ; metabolism ; Immunohistochemistry ; Keratin-14 ; metabolism ; Keratin-5 ; metabolism ; Keratin-6 ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism

OBJECTIVETo evaluate the diagnostic approach and criteria for intraductal papillary neoplasms of breast.

METHODSAccording to the criteria of 2003 WHO classification, 187 cases of intraductal papillary neoplasm of breast were identified and enrolled into the study. The clinical and histologic features were reviewed and immunohistochemical study for CD10, p63, CK14, CK5/6, CK7, MGB1 and p53 were carried out on 53 cases.

RESULTSAmongst the 187 cases studied, there were 128 cases of intraductal papilloma, 16 cases of atypical intraductal papilloma and 43 cases of intraductal papillary carcinoma. They showed a spectrum of morphologic features including epithelial and stromal hyperplasia and secondary changes. The expression of myoepithelial markers, including CD10 and p63, significantly decreased in ascending order from intraductal papillomas, atypical intraductal papillomas and intraductal papillary carcinomas (P < 0.001). The expression of basal cell markers, including CK5/6 and CK14, showed a mosaic pattern in benign lesions and significantly decreased or was absent in atypical and carcinomatous lesions (P < 0.001). In contrast, the luminal cell marker CK7 expressed in the three groups with no statistically significant difference (P = 0.06). On the other hand, the expression of MGB1 in intraductal papillary carcinomas was much lower than that in the other two groups (P = 0.002 and P = 0.007). The staining for p53 was negative in all of the three groups.

CONCLUSIONSIntraductal papillary neoplasms of breast represent a heterogeneous group of lesions with various morphologic appearances. Correlation with immunostaining results for myoepithelial markers, basal-type cytokeratins and luminal epithelial markers are helpful in arriving at a definitive diagnosis.

Adult ; Breast Neoplasms ; metabolism ; pathology ; Carcinoma, Intraductal, Noninfiltrating ; metabolism ; pathology ; Carcinoma, Papillary ; metabolism ; pathology ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Keratin-14 ; metabolism ; Keratin-5 ; metabolism ; Keratin-6 ; metabolism ; Keratin-7 ; metabolism ; Mammaglobin A ; metabolism ; Middle Aged ; Neprilysin ; metabolism ; Papilloma, Intraductal ; metabolism ; pathology ; Transcription Factors ; metabolism ; Tumor Suppressor Proteins ; metabolism

OBJECTIVETo investigate the clinicopathologic features and immunohistochemical of the basal-like subtype of invasive breast carcinoma (BLBC), and to discuss the diagnosis standard.

METHODSImmunohistochemistry was performed in 448 cases of breast carcinoma and these cases were categorized into luminal A, luminal B, null subtypes, HER2-overexpressing and basal-like and their clinicopathologic features were observed under light microscope with stains of HE and immunohistochemical InVitrogen staining.

RESULTSAmong the breast cancer patients, the incidence of BLBC was 15.4% (69/448). Morphologic features significantly associated with BLBC constituently included nest structure and showing diffuse growth pattern, large scarring areas without cells in tumor, geographic necrosis, pushing margin of invasion, lymphocytic infiltrate in various degree in tumor stroma, syncytial tumor cell without clear boundaries, tumor cell showing vesicular unclear chromatin and nucleolus, markedly elevated mitotic count, metaplasia (all P < 0.01). Meanwhile, most BLBC showed strong immunoreactivity for CK5/6, CK14, CK17 (all P < 0.01).

CONCLUSIONBLBC showed distinct morphologic and immunophenotypic features.

Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms ; metabolism ; pathology ; Breast Neoplasms, Male ; metabolism ; pathology ; Carcinoma, Basal Cell ; metabolism ; pathology ; Carcinoma, Ductal, Breast ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Keratin-14 ; metabolism ; Keratin-17 ; metabolism ; Keratin-5 ; metabolism ; Keratin-6 ; metabolism ; Lymphatic Metastasis ; Male ; Middle Aged ; Receptor, ErbB-2 ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism