Ayumi Korekawa

Buschke–Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation

mosome 6p22–24, which is not far away from PSORS1. Our study has some limitations. First, the identification of cases of schizophrenia and psoriasis relied on diagnostic codes in an administrative database. There remains a possibility of coding errors or misdiagnosis. Second, information about cigarette smoking, alcohol consumption and body mass index, which are associated with the risk of psoriasis, were not available in our dataset, leaving room for residual confounding. Third, as our data did not include complete information regarding medications taken, it is not possible for us to assess the confounding role of medications in the relationship between schizophrenia and psoriasis. In conclusion, our study suggests that there was a significant relationship between schizophrenia and psoriasis, particularly in women. Future molecular and genetic linkage studies are needed to elucidate the role of inflammatory processes in the pathomechanisms underlying the association between schizophrenia and psoriasis, as well as to explore the possibility of shared genetic aetiology.

Late-onset, Eruptive Syringoma in an Elderly Man: Correlation with Carbamazepine

Syringomas are benign neoplasms of the eccrine sweat gland ducts that commonly appear around the eyelids in women. Clinically, they manifest as small, skin-coloured or slightly pigmented papules. Syringoma is classified into four clinical types: localized; familial; Down’s syn-drome associated; and generalized, which encompasses multiple and eruptive syringomas (1). Furthermore, clear cell syringoma, which is characterized by histological proliferation of clear cells, has been reported to be asso-ciated with diabetes mellitus (2). Eruptive syringoma is a rare variant and usually appears before or during puberty (3). The lesions occur in large numbers and in successive crops on the neck, chest, abdomen, maxillae and genitalia. We describe here a case of late-onset eruptive syringoma in a 69-year-old man and discuss its possible association with an anti-epileptic drug. CASE REpoRTA 69-year-old man was referred to our department for the evaluation of skin lesions, which he had first noti-ced at the age of approximately 60 years. The lesions had first appeared on his abdomen, and3 years ago the

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation

The palmoplantar keratodermas (PPKs) are a large group of genodermatoses comprising nearly 60 genetically distinct diseases. They are characterized by hyperkeratosis on the palms and soles with or without extrapalmoplantar hyperkeratotic lesions. Focal PPK is one of the hallmarks of pachyonychia congenita, a rare autosomal dominant disorder resulting from mutations in the keratin genes KRT6A, KRT6B, KRT16 or KRT17. Recently, in‐frame deletion mutations of KRT6C have been identified in three families with focal PPK with slight or no nail changes. We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis. The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles. All three patients were heterozygotes for c.1414G>A in KRT6C, predicted to result in p.Glu472Lys. These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C.

Q‐switched ruby laser therapy and long‐term follow‐up evaluation of small to medium‐sized congenital melanocytic naevi

Congenital melanocytic naevi (CMN) are defined as a tissue malformation of the neuroectoderm that presents at birth or within the first few months of life. CMN are generally classified according to their current size at detection, or their predicted size at adulthood: small (< 150 mm in diameter), medium (150–200 mm) or large (> 200 mm). Although the development of malignant melanomas arising in small and intermediate CMN is rare, there is a significant risk of malignant degeneration associated with large CMN, particularly those that arise on the torso in the so-called bathing-trunk distribution, where the risk is estimated to be about 2.5–5%. Medium-sized CMN are difficult to treat, especially if the lesions occur on the visible areas of the body such as the face or limbs. The Q-switched ruby laser (QSRL) has been successfully used to treat various benign pigmented lesions. Long-term follow-up is needed for the assessment of recurrence, delayed scarring and malignant transformation. In this study, we treated patients with small to mediumsized CMN using early serial QSRL. Hirosaki University School of Medicine and Hospital granted ethics approval for this study, and all patients provided informed consent for the procedure. In total, 18 patients (7 male, 11 female, mean ± SD age 5.5 ± 3.6 years, range 4 months to 14 years) were enrolled. All the patients had Fitzpatrick skin types III and IV. The sites of involvement in 9, 1, 6 and 3 cases were the face (n = 9 cases), legs (n = 6), arms (n = 3) and chest (n = 1) (Table 1). Irradiation was carried out every 3 months. Each patient received 2–44 treatments (mean of 18.7). Examinations were carried out for > 3 years, and the CMN lesions did not completely disappear in any case. However, 11 patients had slight improvement in the colour of the lesions, 1 patient had partial hypopigmentation remaining, 5 patients had receding of pigmentation, but the affected skin returned to its original colour within 1 month from the final treatment, and 1 patient (patient 18, Fig. 1) had recurrence (Table 1). After treatment ended, none of the patients had hypertrophic scarring, and the skin texture remained unchanged. A typical case of CMN recurrence during long-term follow-up was that of a 6-year-old boy with a CMN on his left upper arm (Fig. 1a). On histological examination, the lesion was identified as a compound naevus showing no evidence of malignancy or dysplastic changes (Fig. 2a). The patient received 5 treatments with normal-mode ruby laser and 10 with QSRL, after which the lesion significantly improved in colour and cosmetic appearance (Fig. 1b). There was no partial hypopigmentation or textural change. Initially, we assumed that using the normal-mode laser and the QSRL in combination had been effective. However, at the age of 21 years, the patient returned to our clinic because the skin lesion had recurred (Fig. 1c). We suggested further QSRL therapy, but he preferred to undergo excision. The histological findings of the excised lesion showed a marked decrease in the number of junctional melanocytes and nests in the papillary and reticular dermis, but many naevus cells remained in the deep dermis (Fig. 2b,c).

Oral lichen planus with antibodies to desmogleins 1 and 3

Lichen planus (LP) is a chronic inflammatory disorder involving the skin or mucous membranes. Previous studies have demonstrated that some LP patients showed positive enzyme‐linked immunosorbent assay (ELISA) for desmoglein (DSG) antibodies. We report a case with intractable painful oral lesions. ELISA indices for DSG1 and 3 antibodies were increased by 49 and 36, respectively. Histopathological analysis revealed irregular acanthosis and band‐like infiltration of lymphocytes at the dermal–epidermal interface. Direct immunofluorescence revealed negative deposits of immunoglobulin G and C3 in intracellular spaces of the epidermis. Indirect immunofluorescence of normal skin also did not detect any antibodies. Consequently, we made a final diagnosis of oral LP. The previous two LP cases with positive ELISA for DSG antibodies and our case manifested the erosive form, the most advanced oral LP. Therefore, it is a possibility that severe damage of keratinocytes may induce generation of DSG antibodies. However, negative results of immunofluorescence and no relation between disease severity and titers of antibodies make the possibility unlikely. We should measure titers of DSG antibodies in LP patients and accumulate data to establish a valid conclusion.

Mycosis fungoides bullosa associated with bullous pemphigoid

recent primary infection, whereas the presence of a highavidity antibody indicates a past or recurrent infection. Moreover, during active infections, HHV-6 and HHV7 may cross-react. An IgM response to HHV-7 primary infection, therefore, may also be directed to HHV-6 with a reciprocal rising in antibody titer to both viruses. In neonates, maternal IgGs, which may persist to up to six months of age, interfere with the diagnosis of both HHV-6 and HHV-7 infections. Therefore, in the presence of symptoms compatible with primary HHV-6 infection during the first months, such as seizures accompanied by a cutaneous rash, the diagnosis may need, in addition to the detection of specific IgM, quantitative PCR testing. After primary infection, HHV-6 and HHV-7 remain latent in the body mostly in the salivary glands. Serologic assays cannot be sufficient to diagnose viral reactivations, and direct methods like PCR are preferred. Among the latter, however, the detection of the viral genome is not synonymous of active infection and only bona fide quantitative methods, which measure the HHV-6 and HHV-7 viral load in tissues, blood cells and, particularly, plasma and serum, are diagnostic, also permitting the follow-up of the active infection and suggesting a causal link. In addition, in diseases such as pityriasis rosea, which are most probably associated with the active replication of either or both HHV-6 and HHV-7, quantitative PCR assays may detect only one virus depending on the particular phase of the disease. In pityriasis rosea, HHV-7 behavior is unique. It replicates before HHV-6, but its replication tends to cease in the advanced phases. Another issue that involves quantitative methods is the possibility of chromosomal integration (ci) of HHV-6 that complicates the interpretation of a high viral load. In fact, subjects carrying ciHHV-6 present with high levels of HHV DNA in plasma, which, however, persist over time. In these cases, comparisons of the effects of viral loads on multiple fluids and tissues, together with methods that detect the expression of HHV-6 genes associated with a productive infection and measures of lytic antigens in blood cells, may help to distinguish an active infection from a ciHHV-6 state. Lastly, immunohistochemistry can detect viral antigens expressed only during a given moment in the virus replication cycle, thereby indicating the status of the infection.

Anti-laminin γ1 pemphigoid associated with ulcerative colitis and psoriasis vulgaris showing autoantibodies to laminin γ1, type XVII collagen and laminin-332.

Anti-laminin γ1 pemphigoid is a novel autoimmune subepidermal bullous disease characterized by the presence of circulating immunoglobulin (Ig) G autoantibodies to laminin γ1, a common constituent at various basement membrane zones (BMZs). Although an association between various subepidermal blistering diseases and inflammatory bowel disease (IBD) has been reported, there have been no previous reports on an association between anti-laminin γ1 pemphigoid and IBD. Here, we demonstrate a case of anti-laminin [...]

External chalazion as reddish and intractable lower eyelid nodules in a child

Dear Editor, A 3-year-old boy was referred to our hospital with a 3-month history of lesions on his left lower eyelid. He did not have a localized trauma at the lesion site. Before he was referred to our hospital, the patient visited several ophthalmologists, but the diagnosis was uncertain. Examination of the lesion revealed two red, elastic, soft nodules with well-defined borders and decreased mobility of the eyelid; on his left eyelid margin, one was 16 mm 9 9 mm and the other below was 13 mm 9 9 mm (Fig. 1a). The lesions were neither painful nor itchy. An excisional biopsy was taken from the nodule including the orbicularis oculi under general anesthesia. Histopathological examination revealed lymphohistiocytic granuloma with many form cells and foreign body giant cells in the deep dermis, the subcutaneous fat and the orbicularis oculi, and some of the giant cells had small clear spaces in their cytoplasm (Fig. 1b–d). Caseous necrosis was absent. The bacterial, fungal and mycobacterial cultures were also negative. Considering the clinical and histological findings, we confirmed a diagnosis of chalazion. Chalazion is a foreign body reaction characterized by chronic lipogranulomatous inflammation of the meibomian gland caused by an obstruction of the meibomian gland excretory duct, and clinically presents as a single intradermal or subcutaneous nodule within the eyelid. As the nodule grows, if the inflammation spreads into the conjunctiva, a polypoid granulomatous tumor develops on the conjunctiva. On the other hand, if the inflammation perforates anteriorly from the tarsal plate and spreads toward the eyelid surface, a reddish intradermal nodule develops on the eyelid skin. This latter pattern is rare, and consistent with our case. Sometimes, ophthalmologists may fail to diagnose a chalazion showing an unusual clinical presentation. In fact,

Discoid lupus erythematosus with dystrophic calcinosis cutis

Calcinosis cutis (CC) is a rare disorder known to occur commonly in association with underlying autoimmune connective tissue diseases. CC primarily occurs in patients with dermatomyositis, systemic scleroderma, and mixed connective tissue disease. It is only rarely associated with systemic lupus erythematosus (SLE) and even more rarely with discoid lupus erythematosus (DLE).

Primary Amelanotic Rhabdoid Melanoma: A Case Report with Review of the Literature.

Primary rhabdoid melanoma (PRM) is a rare variant of melanoma. Herein, we describe a case of primary amelanotic rhabdoid melanoma and review the clinicopathological features of previously reported cases of PRMs. A 63-year-old Japanese man presented with a nonpigmented red granular tumor without peripheral pigmented macules on the left heel measuring 21 × 18 mm in size. Light microscopic examination revealed a tumor mass composed entirely of polygonal neoplastic cells resembling pulmonary alveoli. Tumor cells were also discohesive with bizarre nuclei, prominent nucleoli and large hyaline cytoplasmic inclusions. No melanin pigment was present. Tumor cells were strongly and diffusely positive for S-100, MART-1, HMB-45 and vimentin, while negative for desmin, αSMA and synaptophysin. According to previous reviews, PRM tends to be amelanotic and nodular. S-100 protein and vimentin stained in all cases contrary to low stainability for HMB-45, which was, by contrast, positive in our case. Prognosis of PRM remains controversial due to the very rare occurrence of this tumor and the small number of confirmed cases that have been reported. Recognition of this rare entity is important in clinical practice even for skillful dermatologists to avoid misdiagnosis with the other tumors and to determinate the subsequent treatment principles.