Satoko Minakawa

Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency.

Anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID) is an X-linked recessive genodermatosis, characterized by a severe eczematous eruption, hypohidrosis, dental anomalies, alopecia and immunodeficiency. We report a case of intractable eczematous eruption in a patient with EDA-ID, which disappeared completely after allogenic transplantation of umbilical-cord blood. A 4-month-old Japanese boy with a pruritic eruption over his whole body since birth was referred to our clinic. On physical examination, diffuse erythema and reddish papules were seen, with evidence of scratching over most of the body, which was compatible with atopic dermatitis (Fig. 1). In addition, dry skin with flaky scales was found on the chest, back and limbs. Histological examination of a skin biopsy specimen found spongiotic changes in the epidermis and perivascular lymphoid and eosinophilic infiltration in the superficial dermis. Laboratory investigations deficient cellular immunity.

Histologic features of nail cosmetics.

Abstract: Nail cosmetics and adornments are widely used in todays society. However, their histologic features are not well characterized. Routine histologic examination and polarization of nail plate specimens in our academic dermatopathology practice at the Hospital of the University of Pennsylvania revealed 3 distinct histologic patterns of nail cosmetics: a hyperpigmented pattern with diffuse fine granular material, a layered pattern with a single linear band of polarizable material, and a hyperpigmented pattern with larger granules containing flecks of polarizable material. In our experience, submitting clinicians rarely indicate the patients use of nail polish or other enhancements. Recognition of the histologic features of nail cosmetics is important to prevent confusion with dermatoses affecting the nail unit, and it will help dermatopathologists render more accurate diagnoses.

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).

Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations

1 Kere J, Srivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409–416. 2 Gunadi , Miura K, Ohta M et al. Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. Pediatr Res 2009; 65: 453–457. 3 Koguchi-Yoshioka H, Wataya-Kaneda M, Yutani M et al. Atopic diathesis in hypohidrotic/anhidrotic ectodermal dysplasia. Acta Derm Venereol 2015; 95: 476–479. 4 Dietz J, Kaercher T, Schneider AT et al. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr 2013; 172: 1023–1031.

Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex

The appealing hypothesis that, after HF-IP collapse, ectopic MAGE-A3 expression to autoreactive CD8 T cells triggers a CTLattack on the HF, thus inducing the AA phenotype, may seem obsolete now. Yet, that more MAGE-A3-reactive CTLs are indeed present in acute AAT and AAM patients than in healthy controls or chronic AA patients begs the question whether these T cells are involved in AA pathobiology, and may thus be a worthwhile therapeutic target for future AA management, after all.

Successful treatment of Kyrle disease with narrowband ultraviolet B

Dear Editor, Kyrle disease (KD) was initially described by Kyrle as hyperkeratosis folliculitis et parafollicularis in cutem penetrans in 1916. It is included in the disease spectrum of perforating dermatoses. We present a case of KD successfully treated with narrowband ultraviolet B (NB-UVB). A 36-year-old woman presented with a 3-year history of multiple pruritic papules on her dorsum and four limbs. The patient had started receiving hemodialysis for chronic renal failure (RF) 3 years prior, and noted pruritus shortly thereafter. There was no improvement following treatment with topical steroid ointments and oral antihistamines. Physical examination revealed multiple, disseminated, erythematous papules and nodules with hyperkeratosis at the referred locations (Fig. 1a, left, b). In part, keratotic papules were arranged linearly, consistent with Koebner’s phenomenon. A biopsy specimen showed epidermal acanthosis and cup-shaped invaginations filled with thickened parakeratotic plugs and basophilic debris (Fig. 1c). There were no findings of transepidermal elimination of collagen fibers. The upper dermis was infiltrated by neutrophils, lymphocytes, mast cells, macrophages and multinucleated giant cells surrounding the degenerated fibers (Fig. 1d, e). From these observations, we diagnosed the patient to be having KD associated with chronic RF. Because previous treatments were ineffective, she was treated with NB-UVB phototherapy once a week. The initial dose of exposure was 300 mJ/cm, which finally extended to 1300 mJ/cm. NB-UVB phototherapy significantly decreased the severity of pruritus and keratotic papules within a few months (Fig. 1a, right). She received this therapy once a week and maintained a non-pruritic condition. Kyrle disease belongs to the group of perforating dermatoses, distinguished by the types of eliminated materials (KD and perforating folliculitis: keratin; reactive perforating collagenosis [RPC]: collagen; elastosis perforans serpiginosa: elastic fibers). In our case, aside from the typical cup-shaped plug, we found multinucleated giant cells surrounding the degenerated materials in the upper dermis. There were no vertically aligned collagen fibers near the epidermis, which is a characteristic finding of RPC. Schreml et al. have reported that KD and RPC simultaneously developed in patients with RF and diabetes mellitus, indicating that these perforating dermatoses are similar disorders, which are triggered by the stimulation of severe scratching, subsequent epidermal damage and alteration of dermal substances. These changes may induce foreign-body granuloma reaction, as well as elimination of degenerated substances. RPC has been reported to improve after retinoid topical application, administration of allopurinol and NB-UVB phototherapy. On the other hand, there were a few reports about the efficacy of NB-UVB

Psoriasis Area and Severity Index is closely related to serum C-reactive protein level and neutrophil to lymphocyte ratio in Japanese patients

Dear Editor Psoriasis is a chronic, immune-mediated inflammatory skin disease with an approximate prevalence of 0.1% in Japan. C-reactive protein (CRP) is a sensitive marker of systemic inflammation, and has emerged as a risk factor for atherosclerosis and cardiovascular disease. Patients with psoriasis have higher CRP levels than healthy controls, and Japanese psoriatic patients with cardioand cerebrovascular disease showed significantly higher CRP levels than those without these diseases. A previous report found no relationship between CRP level and Psoriasis Area and Severity Index (PASI) in Japanese psoriatic patients. The neutrophil to lymphocyte ratio (NLR) is recognized as a cardiac inflammatory marker that correlates with PASI in Korean patients. We investigated the association between laboratory results and PASI scores in Japanese patients with psoriasis.

Usefulness of ultrasonography in the diagnosis of ischaemic fasciitis.

We present the case of a 68‐year‐old woman who developed a painful subcutaneous tumour in the sacral region. Histological examinations revealed a characteristic zonal pattern with a central zone of liquefactive necrosis, surrounded by proliferated atypical fibroblasts and prominent vessels, indicating ischaemic fasciitis. We demonstrate that the characteristic features of ischaemic fasciitis revealed by ultrasonography are strongly associated with those revealed by pathological findings. We thus believe that ultrasonography is a valid tool for making an accurate diagnosis of ischaemic fasciitis.

Hyper-IgE syndrome with a novel mutation of the STAT3 gene

1 Oskay T, Karademir A, Kutluay L. Vesicular and pustular eruption related to cytomegalovirus in an immunocompetent patient. Clin Exp Dermatol 2003; 28: 610–12. 2 Choi YL, Kim JA, Jang KT et al. Characteristics of cutaneous cytomegalovirus infection in non-acquired immune deficiency syndrome, immunocompromised patients. Br J Dermatol 2006; 155: 977–82. 3 L opez-Pintor RM, Hern andez G, de Arriba L et al. Oral ulcers during the course of cytomegalovirus infection in renal transplant recipients. Transplant Proc 2009; 41: 2419–21. 4 della Torre R, Combescure C, Cort es B et al. Clinical presentation and diagnostic delay in bullous pemphigoid: a prospective nationwide cohort. Br J Dermatol 2012; 167: 1111–17. 5 Lambert EM, Strasswimmer J, Lazova R et al. Cytomegalovirus ulcer. Successful treatment with valganciclovir. Arch Dermatol 2004; 140: 1199–201.

Acantholysis caused repeated hemorrhagic bullae in a case of acantholytic acanthoma

Dear Editor, Acantholytic acanthoma is defined as a solitary and benign cutaneous tumor in which acantholysis is the most prominent histological feature. Brownstein first described the diagnosis of acantholytic acanthoma in 1985, and reviewed his series of 31 acantholytic acanthoma cases in 1988. Brownstein summarized the following clinical and histological features of the entity. The most common clinical presentation was a solitary, usually hyperkeratotic papule with occasional crusting. There was a truncal predilection, and the palms, soles, face and mucous membranes were usually spared. Most patients were over 50 years of age, and men were more frequently affected than women. A 57-year-old Japanese woman presented with a 1-year history of repeated hemorrhagic bullae resulting in the formation of a thick crust on her left hand. She had no history of excessive sun exposure, illnesses or medication. She denied any family history of chronic skin diseases. Cutaneous examination revealed a black, single, asymptomatic, domeshaped, 8.3-mm, crusted tumor (Fig. 1a). Forced removal of the crust left an erythematous, keratotic nodule (Fig. 1b). A biopsy of the lesion showed hyperkeratosis, epithelial hyperplasia, extensive lacune on the suprabasilar and intraspinous acantholysis (Fig. 1d,e). We found no formation of dyskeratosis. Superficial dermal lymphohistiocytic infiltrates were seen within the dermis. There was no inflammatory exocytosis or cytological atypia in the epidermis. Acantholytic acanthoma was diagnosed based on the clinical and histological features. We recommended simple excision as the treatment of choice; however, she refused to undergo the operation and was treated with once-nightly topical 0.1% adapalene gel application. One month after the treatment, the nodule disappeared, leaving behind a slight keratotic plaque at the tumor site (Fig. 1c). There was no further formation of the hemorrhagic blister after treatment. She was satisfied with the results of therapy and chose to continue. Acantholytic acanthoma is a benign acanthoma in which acantholysis is the most prominent feature. Histological differential diagnosis include the pemphigus group, Grover’s disease and Hailey–Hailey disease. However, our patient had no evidence of these diseases. Also, differential diagnosis should include solitary tumors with features of acantholysis such as warty dyskeratoma, acantholytic seborrheic keratosis and acantholytic dyskeratotic acanthoma. We could not observe dyskeratosis. The first-line therapy for acantholytic acanthoma is simple excision. However, we had to consider pharmaceutical therapy because our patient refused to undergo surgery. Because of the limited nature of the skin lesion, oral medicine was not indicated. Discussion with the patient revealed that her greatest concern was not the presence of the tumor but the dirty appearance of the thick hemorrhagic crust on her hand. The general therapeutic strategy for acantholytic acanthoma should be inhibition of acantholysis; however, this results in residual acanthoma without acantholysis. We hypothesized that induction of acantholysis may inversely prevent the tumor from developing the hemorrhagic blister and thick crust. Retinoic acid inhibits differentiation of keratinocytes. Desmosomes are essential for the adhesion of keratinocytes, and abnormal desmosome function causes acantholysis. Retinoic acid decreases expression of desmosomal structural proteins such as desmogleins, desmocollins and corneodesmosin. Thus, we initiated treatment with a topical application of syn-