Microinvasive squamous cell carcinoma arising within seborrheic keratosis.

Squamous cell carcinoma (SCC) arising within seborrheic keratosis (SK) is rare. We report an 84-year-old woman who presented with a rapidly growing black tumor on her left palpebral eyelid of several years' duration. Clinical examination revealed an elevated hemorrhagic black tumor that measured 0.9 x 0.9 x 0.6 cm. A clinical diagnosis of SK was made, but basal cell carcinoma could not be ruled out; therefore, excision with wide margins was performed. Histologically, the tumor was symmetrical and composed of benign basaloid cells with pseudohorn cysts in a reticulated pattern. The tumor showed heavy melanin deposition. The features were indicative of SK. An atypical cell cluster was seen in the central low area. These cells showed keratin pearls, individual keratinization, mitotic and apoptotic figures, nuclear atypia, and microinvasion, indicating microinvasive SCC. Immunohistochemistry revealed the microinvasive SCC area was true SCC. This case suggests that microinvasive SCC can arise within pigmented reticulated SK.

Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (OMIM 308205) is an extremely rare X-linked oculocutaneous genetic disorder characterized by follicular keratotic papules, total to subtotal alopecia, and photophobia. Previous reports depicted the histopathological features of affected skin lesions, represented by marked follicular plugging and hypoplastic pilosebaceous structures. However, past studies provided limited pathological information of pilosebaceous unit anomaly. Here, we report a 3-year-old boy's case with this uncommon condition. In this case, scalp biopsy samples were processed by both vertical and transverse sectioning techniques, which enabled a more detailed and quantitative pathological analysis of pilosebaceous structures. In vertical slices, miniaturized anagen hair follicles with characteristic follicular plugs were observed. A transverse section identified abortive sebaceous glands in hair follicles, a finding rarely observed in vertical sections. In addition, a transverse slice demonstrated that the number of total hair follicles was not significantly decreased compared with the average hair follicle density in Asians, suggesting that the pilosebaceous hypoplasia might arise from impaired maturation, not from initiation defect, during hair follicle morphogenesis. This study provides a more comprehensive pathological insight into pilosebaceous anomaly in IFAP syndrome and substantiats the usefulness of the combination of vertical and transverse sectioning approaches in the pathological examination of congenital hypotrichosis, including IFAP syndrome.

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia and photophobia. Previous studies have identified five missense mutations in the membrane-bound transcription factor protease, site 2 (MBTPS2) gene in European patients with this syndrome. In this study, we detected the 1286G > A (Arg429His) mutation in MBTPS2 in a Japanese patient with IFAP syndrome. This mutation has previously been detected in a German family with this syndrome. Functional analysis revealed that this mutation was the most severe mutation identified to date for this syndrome. None of the male German patients had been tested for the mutation because they had several visceral and bone anomalies, and had died as neonates or infants. The clinical features of our 5-year-old patient are less severe than those of the German patients. Although he has neurological abnormalities, such as retarded psychomotor development and seizures, he does not have bone or visceral anomalies, except cryptorchidism. This case indicates the existence of other factor(s) that influence the clinical features of this syndrome. Further clinical and genetic studies are required to clarify the relationship between phenotypes and genotypes and to identify such modifying factors.

Malignant glomus tumor of the palm: a case report.

The author herein reports on a glomus tumor of the palm. A 71-year-old man consulted our hospital because of a tumor on the left palm. The tumor was deeply seated, and MRI and CT showed a deep cystic tumor adjacent to the bone. An excision of the tumor was therefore performed. Grossly, the tumor was red and partly cystic. The tumor was well defined from the surrounding tissues, and measured 25 × 24 × 22 mm. Microscopically, the tumor consisted of epithelioid perivascular cells (glomus cells) located around the blood vessels. Cystic changes and hyalinization areas were scattered. The tumor cells had moderately hyperchromatic nuclei. Nuclear pleomorphism was noticed, nucleoli were absent and apparent mitotic figures were not recognized. There were no areas of necrosis. Immunohistochemically, the glomus cells were positive for vimentin and α-smooth muscle actin. They were negative for cytokeratins, epithelial membrane antigen, CD34, CD31, factor VIII-related antigen, S100 protein, p53 protein, desmin and melanosome. The Ki-67 labeling was 5%. The tumor was diagnosed as a malignant glomus tumor because of its deep location and size > 2 cm , according to the criteria of one group. The tumor recurred 12 months later, and a further excision was performed. No metastases were found. Now, the patient is being strictly followed up.

The human actin-related protein hArp5: nucleo-cytoplasmic shuttling and involvement in DNA repair.

Certain actin-related proteins (Arps) of budding yeast are localized in the nucleus, and have essential roles as stoichiometric components of histone acetyltransferase (HAT) and chromatin remodeling complexes. On the other hand, identification of vertebrate nuclear Arps and their functional analyses are just beginning. We show that human Arp5 (hArp5) proteins are localized in the nucleus, and that arp5Delta yeast cells are partially complemented by hArp5. Thus, hArp5 is a novel member of the nuclear Arps of vertebrates, which possess evolutionarily conserved functions from yeast to humans. We show here that hArp5 shuttles between the nucleus and the cytoplasm. Furthermore, after the induction of DNA double strand breaks (DSB), cell growth and the accumulation of phosphorylated histone H2AX (gamma-H2AX) are impaired by hArp5 depletion. Association of hArp5 with the hIno80 chromatin remodeling enzyme and decrease of chromatin-bound hIno80 by hArp5-depletion indicate that hArp5 may have a role in the recruitment of the hINO80 complex to chromatin. Overexpression of hArp5 and hIno80 enhanced gamma-H2AX accumulation. These observations suggest that hArp5 is involved in the process of DSB repair through the regulation of the chromatin remodelling machinery.