Makiko Ueno

Histiocytoid Sweet syndrome: a novel association with relapsing polychondritis

1 Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat 2010; 31:1090–6. 2 Shibata A, Ogawa Y, Sugiura K et al. High survival rate of harlequin ichthyosis in Japan. J Am Acad Dermatol 2014; 70:387–8. 3 Thomas AC, Cullup T, Norgett EE et al. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol 2006; 126:2408–13. 4 Rajpopat S, Moss C, Mellerio J et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 2011; 147:681–6. 5 G€ urkan H, Fischer J, Ulusal S et al. A novel mutation in the ABCA12 gene in a Turkish case of harlequin ichthyosis. Clin Dysmorphol 2015; 24:115–17. 6 Koochek A, Choate KA, Milstone LM. Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation. Pediatr Dermatol 2014; 31:e63–4.

Case of tumoral melanosis with a massive infiltration of CD163+ and CD68+ macrophages

chronic hand eczema refractory to topical corticosteroids. Also, the earlier studies have suggested that alitretinoin could be a meaningful treatment option for PPP. However, its efficacy was not demonstrated in a recent controlled study. Acrodermatitis continua of Hallopeau and PPP are closely related and nearly indistinguishable clinically. However, compared with PPP, ACH tends to not respond to conventional treatment of psoriasis. Effective therapeutic alternatives also need to be presented. Herein, we experienced a case of refractory ACH successfully treated using oral alitretinoin and noticed dramatic improvement of nail abnormality as well as skin lesions. Although this is a single-case study, we think our experience is worthy of report. In addition, further studies will be needed. We suggest that oral alitretinoin is a reasonable and reliable therapeutic option for recalcitrant ACH in case of failure of other treatment agents.

Neutrophilic panniculitis with vasculitis in a melanoma patient treated with vemurafenib: a case report and its management

cutaneous concerns. With over 310 million monthly active users, Twitter is one of the most popular SM platforms. The availability of data from such social networks provides a novel means for determining interest and trends in communicating health issues. Twitter users who communicate dermatologic concerns may also be receptive to teledermatology services. The popularity of skin disease on Twitter makes it an important tool in communicating skin disease educational and preventative messages.

Four Different Tumors Arising in a Nevus Sebaceous.

Nevus sebaceous is known by its association with one or more secondary tumors, but more than three multiple tumors arising from a nevus sebaceous is extremely rare. A 67-year-old female presented with a light brown plaque on the back of her head that contained a dome-shaped black node and an erosive lesion. Histopathological examination showed atypical basaloid cells in the black node. At the periphery of that node, structures resembling follicular germs extruded from interlacing cords in the upper portion and tumor nests with sebocytes were in the lower portion. In the erosive lesion, papillated structures with an apocrine epithelium were observed. In the light brown plaque, enlargement of sebaceous lobules was noted. From those histopathological features, a diagnosis of syringocystadenoma papilliferum, sebaceoma, trichoblastoma and basal cell carcinoma arising from a nevus sebaceous was made. We discuss the rarity of multiple tumors arising from a nevus sebaceous.

Extraocular sebaceous carcinoma in association with a clonal seborrheic keratosis: Dermoscopic features

Dear Editor, The clinical diagnosis of extraocular sebaceous carcinoma is challenging due to the lack of specific clinical manifestations of this neoplasm. However, previous reports of extraocular sebaceous carcinomas using dermoscopy have been limited. Here, we present a case of an extraocular sebaceous carcinoma in association with a clonal seborrheic keratosis and we describe its dermoscopic features. A 75-year-old woman presented with a tumor in a black plaque on her abdomen. The patient had a history of burn injury on her abdomen 30 years prior. Her burn scar had gradually become black and then developed a tumor with bleeding 3 months earlier. Physical examination revealed a 20 mm 9 12 mm black keratotic plaque with an elevated tumor in the center of her abdomen infraumbilically (Fig. 1a). Dermoscopic examination revealed that this lesion had two components: polymorphous vessels with homogenous yellow backgrounds in the center and blue-gray globules at the periphery (Fig. 1b). The polymorphous vessels were composed of linear irregular vessels, glomerular vessels and hairpin-like vessels (Fig. 1c). At the periphery, similar findings with bluegray structures of various size and shape were observed.

Ulcerated giant pilomatricoma with appearance of cutaneous malignancy on positron emission tomography/computed tomography

had been pointed out to his parents at birth; however, the details of the disease were not explained. There was no family history of albinism or a hemorrhagic tendency. He was diagnosed with Crohn’s disease at 24 years old. He had worked as a clerk, but had rarely used sun block. He noticed a small tumor of the right cheek at 41 years old. After 2 years, the tumor rapidly increased and marked hemorrhage was noted, and he visited our department. On physical examination, OCA, nystagmus and visual disorder were observed. There was a 45 mm 9 45 mm tumor on the right cheek (Fig. 1a), and the biopsy findings suggested SCC (Fig. 1b,c). Computed tomography revealed that the tumor was adjacent to the masticatory muscle (Fig. 1d). Two courses of chemotherapy with cisplatin and fluorouracil were conducted (Fig. 1e), and tumorectomy and reconstruction using a free forearm flap was performed. Although the fibrinogen level, prothrombin time, partial thromboplastin time and platelet count were normal, the bleeding time was markedly prolonged (12.5 min), and it was difficult to stop bleeding during the surgery. Therefore, detailed platelet aggregation analysis was performed. Arachidonic acidand thrombin receptor agonist peptide-induced platelet aggregation was reduced, whereas adenosine diphosphateand collagen-induced aggregation was not impaired. This indicated impaired secondary platelet aggregation, which is consistent with the features of HPS. We genetically screened for mutations of his HPS1 by the simultaneous single-strand conformation polymorphism method, and detected a pathological mutation (c.2003T>C, p.L668P, homozygote), which has been reported. Based on the results of sequencing analysis with the platelet aggregation test, a diagnosis of HPS1 was made. After the surgery, strict guidance for sunlight avoidance was provided to prevent AK and SCC development. Multiple AK lesions have been treated with imiquimod. There has been no local relapse or distant metastasis during the postoperative follow up of 3 years and 10 months (Fig. 1f), and activity of an intestinal lesion, which had been diagnosed as Crohn’s disease, remains stable and there is no pulmonary lesion. Although the accurate incidence is unclear due to the small number of patients, OCA is sometimes complicated by AK and SCC. Our patient was diagnosed with OCA at birth, however, the explanation of the disease given to his parents had been insufficient, resulting in the development of multiple SCC and AK. Thus, this case illustrates that guidance towards sun protection for OCA patients is important. In addition, when we identify an OCA case, we should carefully assess the patient’s bleeding tendency and perform genetic analysis for early diagnosis. Consequently, we can predict or treat life-threatening manifestations in addition to prevent SCC development.

Phakomatosis pigmentovascularis type IIb: A case with Klippel–Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots

Dear Editor, Phakomatosis pigmentovascularis (PPV) has several variants due to different combinations of pigmentary lesions and vascular lesions. PPV type IIb is characterized by capillary malformation and dermal melanocytosis with or without nevus anemicus. Here, we present a case of PPV type IIb in association with Klippel–Tr enaunay syndrome. Our case is rare in terms of its extensive dermal melanocytosis. A 53-year-old man presented with a diffuse bluish gray pigmentation on his left cheek, right back and shoulder, and diffuse red-purple aggregated patches on his upper and lower limbs (Fig. 1a,b). There was no familial history of PPV or other

A case of subungual melanoma with bone invasion: destructive local invasion and multiple skin metastases

to abnormal adhesion and migration of keratinocytes. Br J Dermatol 2008; 159: 1192–1196. 7 Fassihi H, Wessagowit V, Jones C et al. Neonatal diagnosis of Kindler syndrome. J Dermatol Sci 2005; 39: 183–185. 8 Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol 2006; 142: 620–624. 9 Techanukul T, Sethuraman G, Zlotogorski A et al. Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm Venereol 2011; 91: 267–270. 10 Penagos H, Jaen M, Sancho MT et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 2004; 140: 939–944. 11 Ussar S, Moser M, Widmaier M et al. Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS Genet 2008; 4: e1000289. 12 Sadler E, Klausegger A, Muss W et al. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Arch Dermatol 2006; 142: 1619–1624.

Peripheral arterial bypass surgery for intractable wounds caused by limited cutaneous systemic sclerosis.

asymptomatic) and calcification of the large arteries (Fig. 1i,j). Eosinophilic granulomatosis with polyangiitis was excluded as a differential diagnosis because there was no history of asthma or allergic rhinitis, no eosinophilia and very little eosinophilic infiltration of the biopsy specimen. Therefore, we diagnosed microscopic polyangiitis (MPA) presenting with multiple punched-out ulcers and interstitial pneumonia. Pulse corticosteroid therapy with methylprednisolone (1000 mg/day for 3 days) followed by oral prednisolone (60 mg/day) was effective for MPA, resulting in the gradual improvement of the leg ulcers and pneumonia with decreased serum myeloperoxidase ANCA level to 2.9 U/mL. During the clinical course, cytomegalovirus enterocolitis, invasive pulmonary aspergillosis and leg phlegmon developed and were treated with ganciclovir, voriconazole, and tazobactam with vancomycin, respectively. Microscopic polyangiitis is part of ANCA-associated necrotizing vasculitis (AAV). Myeloperoxidase ANCA is detected in 50–75% of MPA patients and infection can be a trigger of MPA, although no antecedent infection was found in this case. AAV is associated with interstitial lung disease (ILD), but the pathogenesis of ILD in AAV remains poorly understood. There are three hypotheses: (i) alveolar hemorrhage due to pulmonary capillaritis; (ii) an anti-myeloperoxidase-directed autoimmune response; or (iii) production of ANCA by ILD as a result of neutrophil destruction. Palpable purpura is the most common skin manifestation, occurring in 30–40% of patients with MPA. Other skin manifestations include livedo reticularis and nodules, because MPA usually affects small blood vessels. Deep skin ulcers caused by MPA, which are rare but previously reported, can occur when necrotizing vasculitis affects the deeper vessels at the dermis. Although abnormal blood vessel calcification was not detected with von Kossa staining, we speculate that the punched-out ulcers might have developed due to necrotizing vasculitis at the dermosubcutaneous junction from angiopathy caused by diabetes and/or hemodialysis.

Bazex Syndrome in Lung Squamous Cell Carcinoma: High Expression of Epidermal Growth Factor Receptor in Lesional Keratinocytes with Th2 Immune Shift

An 82-year-old Japanese man was referred for detailed examination of hyperkeratotic erythematous plaques on his palms and soles for 6 months. Two weeks before his first visit, he had undergone lung lobectomy for right lung squamous cell carcinoma (SCC). Laboratory findings showed elevations of eosinophil counts, serum IgE, thymus and activation-regulated chemokine, SCC antigen, and soluble interleukin-2 receptor levels. Histological results of a skin biopsy involving the left palm showed psoriasiform dermatitis. Before lung lobectomy, the hyperkeratotic erythematous plaques on the palms and soles and the erythemas on the trunk and extremities were difficult to treat with topical steroids. After lobectomy, the skin symptoms dramatically and rapidly subsided with topical steroids. Therefore, we diagnosed Bazex syndrome (BS), also known as acrokeratosis paraneoplastica, as a paraneoplastic cutaneous disease in lung SCC. The mild eosinophilia subsided and levels of SCC antigen, IgE, and soluble interleukin-2 receptor were reduced. BS is a paraneoplastic cutaneous disease characterized by acral psoriasiform lesions associated with an underlying neoplasm. In a previous report, a shift to the Th2 immune condition was found in patients with non-small cell lung cancer, as shown in our patient. Epidermal growth factor receptor (EGFR) is also known as tumor growth factor-α receptor; it is increased in psoriatic keratinocytes. In our case, EGFR expression increased in lesional keratinocytes 2 weeks after surgery and decreased 4 weeks after surgery. We speculate that a shift to Th2 immune reactions in lung SCC may be the pathogenesis of BS, whereby lesional keratinocytes highly express EGFR in parallel with disease activity.