S. Takashima

Dermoscopic observation in adenoma of the nipple

1 Oiso N, Kawara S, Inui H, Kawada A. Pigmented spots as a sign of mammary Paget’s disease. Clin Exp Dermatol 2009; 34: 36–38. 2 Longo C, Fantini F, Cesinaro AM et al. Pigmented mammary Paget disease: dermoscopic, in vivo reflectance-mode confocal microscopic, and immunohistochemical study of a case. Arch Dermatol 2007; 143: 752–754. 3 Yanagishita T, Tamada Y, Tanaka M et al. Pigmented mammary Paget disease mimicking melanoma on dermatoscopy. J Am Acad Dermatol 2011; 64: e114–e116. 4 Hida T, Yoneta A, Nishizaka T et al. Pigmented mammary Paget’s disease mimicking melanoma: report of three cases. Eur J Dermatol 2012; 22: 121–124. 5 Lin J, Koga H, Takata M, Saida T. Dermoscopy of pigmented lesions on mucocutaneous junction and mucous membrane. Br J Dermatol 2009; 161: 1255–1261.

RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke–Ollendorff syndrome

[1] W.T. Massengale, K.T. Hodari, E.E. Boh, L.T. Nesbitt, Xanthomas, in: J. Bolognia, J.L. Jorizzo, J.V. Schaffer (Eds.), Dermatology, Elsevier Saunders, Philadelphia, 2012. [2] M. Asahina, T. Mashimo, M. Takeyama, R. Tozawa, T. Hashimoto, A. Takizawa, et al., Hypercholesterolemia and atherosclerosis in low density lipoprotein receptor mutant rats, Biochem. Biophys. Res. Commun. 418 (2012) 553–558. [3] P.R. Hiebert, W.A. Boivin, T. Abraham, S. Pazooki, H. Zhao, D.J. Granville, Granzyme B contributes to extracellular matrix remodeling and skin aging in apolipoprotein E knockout mice, Exp. Gerontol. 46 (2011) 489–499. [4] A. Nakano, M. Kinoshita, R. Okuda, T. Yasuda, M. Abe, M. Shiomi, Pathogenesis of tendinous xanthoma: histopathological study of the extremities of Watanabe heritable hyperlipidemic rabbits, J. Orthop. Sci. 11 (2006) 75–80. [5] R.M. Lavker, G. Dong, P.S. Zheng, G.F. Murphy, Hairless micropig skin. A novel model for studies of cutaneous biology, Am. J. Pathol. 138 (1991) 687–697. [6] M.S. Brown, J.L. Goldstein, Familial hypercholesterolemia: a genetic defect in the low-density lipoprotein receptor, N. Engl. J. Med. 294 (1976) 1386–1390. [7] B.T. Davis, X.J. Wang, J.A. Rohret, J.T. Struzynski, E.P. Merricks, D.A. Bellinger, et al., Targeted disruption of LDLR causes hypercholesterolemia and atherosclerosis in Yucatan miniature pigs, PLoS One 9 (2014) e93457. Zheng Wang, Molly A. Wasserman Courtney E. Morgan Janet M. Vercammen Amy S. Paller Melina R. Kibbe* Division of Vascular Surgery and the Simpson Querrey Institute for BioNanotechnology, and the Department of Dermatology, Northwestern University, Chicago, IL, United States

Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family

Dear Editor, A female infant was born at 37 weeks’ gestation. The proband was the first child of non-related parents, and the proband’s mother and maternal grandfather, who had shown only dystrophy of the nails without any blisters or scars, had been clinically diagnosed with dominant dystrophic epidermolysis bullosa, nails only (DDEB-na) (Fig. 1a,b). The infant developed erosions and blisters on the feet, legs, hands and oral mucosae at 1 day of age, and blisters continued to appear afterwards, particularly at sites of trauma (Fig. 1c,d). We first suspected recessive dystrophic epidermolysis bullosa (RDEB) because the patient had a more severe phenotype than that of typical DDEB. Electron microscopy of skin obtained from a blister on the dorsal right foot revealed separation below the lamina densa of the basement membrane (Fig. 1e,f). In addition, dilated rough endoplasmic reticulae formed stellate bodies within the basal and suprabasal keratinocytes (Fig. 1g). The erosions resolved within 3 weeks, leaving scars and milia. We performed direct sequence analysis of COL7A1 and found the proband and her mother to be heterozygous for the novel mutation c.5327G>T (p.G1776V) (Fig. 1h). Moreover, we confirmed c.5327G>T to be absent in the father, in 50 racially matched control individuals and in the Exome Aggregation Consortium and the Human Genetic Variation Database. From these findings, the patient was diagnosed with DDEB, bullous dermolysis of the newborn (DDEB-BDN). Dystrophic epidermolysis bullosa which is caused by COL7A1 mutations encoding a type VII collagen, is a group of heritable blistering diseases characterized by fragility of the skin and mucous membranes. BDN is a rare subtype of DEB that can be inherited autosomal dominantly or recessively. A key feature of BDN is that the blister formation decreases with age, and most of the lesions heal within several months to leave minimal (a) (b)

Appearance of antidesmocollin 1 autoantibodies leading to a vegetative lesion in a patient with pemphigus vulgaris

DEAR EDITOR, Pemphigus describes a group of autoimmune bullous diseases, mainly classified into pemphigus vulgaris and pemphigus foliaceus. Pemphigus vulgaris is further subcategorized into a mucocutaneous type [with autoantibodies against desmoglein (Dsg)3 and Dsg1] and a mucosal type (with autoantibodies against Dsg3 but not Dsg1) based on autoantibody profile and clinical features. Pemphigus vegetans (PVeg), a rare variant of pemphigus vulgaris, is characterized by vegetating lesions. However, the mechanism behind the occurrence of these elevated lesions remains unclear. Recently, it was reported that antidesmocollin (Dsc)1 and Dsc3 autoantibodies were frequently detected and potentially pathogenic in PVeg. Here we report a case of pemphigus vulgaris in which a vegetative plaque, accompanied by the elevation of anti-Dsc1 autoantibodies, occurred during treatment. A 39-year-old man was referred to our hospital with blisters and erosions on the whole body and oral mucosal erosions without vegetative lesions. A biopsy specimen obtained from a vesicle on his abdomen showed intraepidermal bullae in suprabasal and prickle cell layers containing many

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology

A 5-month-old girl was referred to our department with extensive blistering and erosions on the whole body since birth. The proband was the third child of non-related parents and her father had had similar skin symptoms in childhood (Fig. 1A). She was born by elective Caesarean section after a 37-week gestation because of her mothers repeated Caesarean sections. She had a birth weight of 2608 g and a birth length of 47.0 cm. Clinical findings revealed flaccid blisters and erosions on the whole body with some of the blisters forming annular shapes (Fig. 1B-E). Thickening of the nails was observed (Fig. 1C). Her oral mucosa was intact. Transmission electron microscopy (TEM) showed blister formation within the cytoplasm of the epidermal basal cells (Fig. 1F), leading us to diagnose epidermolysis bullosa simplex (EBS). The clumping of degenerated keratin fibres was not observed within epidermal keratinocytes (Fig. 1G). This article is protected by copyright. All rights reserved.

Eosinophilic pustular folliculitis in a patient with mycosis fungoides

Dear Editor Eosinophilic pustular folliculitis (EPF), or Ofuji’s disease, is a rare dermatosis clinically characterized by recurrent and pruritic eruptions consisting of follicular papules and sterile pustules associated with eosinophilia. Histologically, eosinophils and lymphocytes surround and infiltrate the follicle, forming intrafollicular eosinophilic micropustules. The aetiology of EPF is still uncertain, but associations with acquired immunodeficiency syndrome (AIDS), cutaneous T-cell lymphoma (CTCL), anaplastic large cell lymphoma (ALCL), acute myelogenous leukaemia (AML), B-cell chronic lymphatic leukaemia and acute lymphoblastic leukaemia (ALL) have been reported. In addition, EPF has been shown to be associated with bone marrow transplantation (BMT). Here, we describe a case of EPF in a patient with mycosis fungoides (MF) who had received an unrelated BMT (uBMT). A 36-year-old female with MF (T3N2M0B0, stage IIb), which developed around 16 years previously, came to our hospital with pruritic eruptions on her face. Twenty-one months before, she had been treated with uBMT for skin tumours associated with MF, which had appeared 4 years before, resulting in partial remission. The eruptions first developed around the eyebrows, and gradually spread over her face in 7 days. Clinically, firm reddish papules of up to 5 mm in diameter were scattered over her face (Fig. 1). On her left popliteal fossa and right shoulder, dark red tumours of up to 4 mm in diameter were noted, which had been histologically diagnosed as recurrent lesions of MF. Laboratory investigations showed increased eosinophils (480 cells/L, 10.7% of total leucocytes). A skin biopsy from a papule on her right submandibular facial eruption showed dense infiltration of eosinophils, lymphocytes and neutrophils around hair follicles, and many eosinophils were infiltrated in the hair follicles (Fig. 2a,b). Mucin was also detected within the follicles (Fig. 2c). Immunohistochemically, atypical mononuclear cells positive for CD3, CD4 and CD5 and negative for CD7 were also observed (Fig. 2d,e). From the clinical and histological findings, the eruption was diagnosed as EPF associated with MF. Topical diflucortolone valerate showed no effect, and oral indomethacin (100 mg/day) was started. New papules stopped appearing and the pruritus disappeared within 7 days after the treatment, and peripheral eosinophils were decreased (297 cells/L, 6.6% of total leucocytes) after 4 weeks. However, after 6 weeks, the treatment was discontinued due to adverse drug eruptions, and the skin eruptions recurred. To the best of our knowledge, this is the first case of EPF that developed in a patient with MF. Interestingly, immunohistochemical studies have revealed that MF-associated atypical lymphoma cells are also involved in regional hair follicles of EPF. In addition, deposits of mucin have also been observed within the hair follicles, as found in follicular mucinosis, which is known to develop in patients with MF. These findings suggest that MF is involved in the development of EPF. In addition, uBMT therapy may be associated with the development of EPF, since EPF that developed after BMT has been reported. However, all previous cases were patients who had received autoBMT but not uBMT; therefore, the aetiological role of uBMT in the development of EPF is still undetermined. In summary, here we reported a case of EPF that was associated with MF, in which oral indomethacin was effective, as is found in classical cases of the disease.

Pruritic Papules Following Lumbar Corset Use: A Quiz

Acta Derm Venereol 95