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oncology department of another hospital, where she received chemotherapy. Only 44 cases of primary cutaneous RMS have been reported in the published work, and they account for less than 1% of RMS.2 Primary cutaneous RMS presented bimodal age distribution like RMS, but without definite male predominance.2 To make a diagnosis of primary cutaneous RMS, the tumor should arise in the dermis or subcutaneous tissue with no evidence of deep soft tissue or metastatic origin.1,2 Of the 44 reported cases, the most common site is head and neck region (23 cases), and the most common histological subtype is alveolar (22 cases), followed by embryonal (10 cases) and pleomorphic (5 cases).2,3 Alveolar RMS is histologically characterized by the presence of small, round, neoplastic cells and alveolar-like spaces separated by connective tissue trabeculae.4 Muscle-specific actin and desmin have been reported as the most sensitive marker, whereas myoglobin, myogenin and MyoD1 are considered to have greater specificity.5 The differential diagnoses include general categories of tumors with small, round, blue cells. In our case, CD56 positivity made the differential diagnosis with Merkel cell carcinoma and malignant peripheral nerve sheath tumor difficult. However, CD56 expression has been demonstrated in RMS, and desmin and MyoD1 positivity with CK20 negativity facilitated the differential diagnosis.1 In cases of tumoral lesion following trauma, skeletal muscle regeneration (SMR) should also be included in the differential diagnosis. SMR is a pleomorphic proliferation with inflammatory and phagocytic reactions following trauma, and it may histologically simulate RMS. However, RMS lacks the peripheral maturation pattern observed in SMR.5 Our case is interesting in that the initial

presentation of primary cutaneous RMS clinically resembled an atrophic scar.

ACKNOWLEDGMENT:

All authors have contributed significantly and equally, and are in agreement with the content.

CONFLICT OF INTEREST:

None declared.

Yoon Seob KIM, Ji Hyun LEE, Jun Young LEE, Young Min PARK Department of Dermatology, Seoul St Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea doi: 10.1111/1346-8138.13011

REFERENCES 1 Sabater-Marco V. Zapater Latorre E, Martorell Cebollada M. Postradiation cutaneous pleomorphic rhabdomyosarcoma with extracellular collagen deposits reminiscent of so-called amianthoid fibers. J Cutan Pathol 2014; 41: 316–321. 2 Marburger TB, Gardner JM, Prieto VG, Billings SD. Primary cutaneous rhabdomyosarcoma: a clinicopathologic review of 11 cases. J Cutan Pathol 2012; 39: 987–995. 3 Scatena C, Massi D, Franchi A, De Paoli A, Canzonieri V. Rhabdomyosarcoma of the skin resembling carcinosarcoma: report of a case and literature review. Am J Dermatopathol 2012; 34: e1–e6. 4 Lee MW, Chung WK, Choi JH, Moon KC, Koh JK. A case of botryoid-type embryonal rhabdomyosarcoma. Clin Exp Dermatol 2009; 34: e737–e739. 5 Ghosn SH, Radfar A, Stefanato CM. Skeletal muscle regeneration: report of a case presenting as a cutaneous nodule following blunt trauma to the lip. J Cutan Pathol 2007; 34: 352–354.

Case of nevoid basal cell carcinoma syndrome with multiple cutaneous keratocysts Dear Editor, Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is an autosomal dominant disorder showing multiple basal cell carcinomas (BCC), palmoplantar pits, keratocystic odontogenic tumors (KCOT), calcification of the falx cerebri and skeletal abnormalities.1 Though cutaneous cysts, especially epidermal cysts, are also often observed in cases of NBCCS,1,2 cutaneous keratocysts are rare.3–5 We report a case of NBCCS with multiple cutaneous keratocysts. A 33-year-old Japanese man presented with a 4-year history of multiple, gradually enlarging, intracutaneous nodules. Physical examination showed 16 elastic, soft, subcutaneous, cystic nodules of varying size on his right upper eyelid, trunk and left

thigh (Fig. 1a–c). He also had 3 mm 9 3 mm and 8 mm 9 5 mm, dome-shaped, blackish-brown nodules on his cheeks (Fig. 1c). He had multiple milia, 2 mm in diameter, around his eyelid. Histological examination of the intracutaneous cystic nodule on the thigh revealed a corrugated wall surface lined by a thin layer of stratified squamous epithelium without a granular cell layer (Fig. 1d). Vellus and terminal hairs in the cavity were not observed, neither were sebaceous glands within or close to the cyst wall. Two cutaneous cysts on his right upper eyelid showed similar histological features, and were diagnosed as cutaneous keratocysts. Histological examination of the resected blackish-brown nodules confirmed solid-type BCC. He underwent operation for the jaw cysts, which were histologically diagnosed as KCOT. A computed tomographic scan of the head

Correspondence: Yoshiaki Kubo, M.D., Ph.D., Department of Dermatology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-15-18 Kuramoto-cho, Tokushima City, Tokushima 770-8503, Japan. Email: [email protected]

© 2015 Japanese Dermatological Association

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Letters to the Editor

(a)

(c)

(d) (b)

(e)

surface lined by several layers of stratified squamous epithelium without granular cell layers or sebaceous units, in contrast with steatocystomas. Recently, 23 cutaneous cysts in four cases of NBCCS were examined histologically in detail.5 Among them, 21 cysts revealed alternating infundibularand steatocystoma-like squamous epithelia in varying proportions.5 Only two cysts in distinct cases showed exclusive steatocystoma-like squamous epithelia,5 which correspond to cutaneous keratocysts. In the present case, three of the multiple cysts were histologically identified as cutaneous keratocysts. In addition to solitary incidence, presence of multiple cutaneous keratocysts has been already reported in several cases of NBCCS. However, two cases of cutaneous keratocysts not associated with NBCCS have been reported to date, and each cyst was solitary. To the best of our knowledge, plural cutaneous keratocysts not associated with NBCCS have never been reported. Therefore, we believe that multiple cutaneous keratocysts may be one feature indicative of NBCCS. Though activation of the Sonic Hedgehog pathway may be relevant to the pathogenesis of cutaneous keratocysts, as well as KCOT, the molecular mechanisms underlying the development of cutaneous keratocysts require further investigation.

CONFLICT OF INTEREST:

Figure 1. (a–c) Clinical features of the case. (a) Subcutaneous cystic nodules of varying size on the trunk (arrows), (b) left thigh and (c) right upper eyelid (arrow). Dome-shaped, blackish-brown, 3 mm 9 3 mm and 8 mm 9 5 mm nodules on his cheeks (arrowheads). (d) Histopathological findings of a cutaneous cyst revealed a corrugated wall surface lined by a thin layer of stratified squamous epithelium without a granular cell layer (hematoxylin–eosin, original magnification 9200). (e) Direct sequencing of exon 2 of the PTCH1 gene revealed a heterozygous 2-bp deletion.

showed lamellar falx calcification. Neither palmoplantar pits nor skeletal abnormalities were observed. He had no family history of similar symptoms. Genomic DNA extracted from his peripheral blood revealed a novel heterozygous 2-bp deletion (c.258_259delCT) in exon 2 of the PTCH1 gene (Fig. 1e). The patient was then diagnosed with NBCCS. The incidence of cutaneous cysts in NBCCS cases ranges 36–75%.1,2 Among these, solitary or multiple cutaneous keratocysts have been rarely reported.3–5 Cutaneous keratocysts were first described as cutaneous cysts histologically similar to KCOT in 1986.3 Histological features show a corrugated wall

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None declared.

Yoshihiro MATSUDATE, Mayu TETSUTANI, Nozomi FUKUI, Kenji HIROSE, Kazutoshi MURAO, Yoshiaki KUBO Department of Dermatology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan doi: 10.1111/1346-8138.13022

REFERENCES 1 Jackson R, Gardere S. Nevoid basal cell carcinoma syndrome. Can Med Assoc J 1971; 105: 850–862. 2 Goldstein AM, Pastakia B, DiGiovanna JJ et al. Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC). Am J Med Genet 1994; 50: 272–281. 3 Barr RJ, Headley JL, Jensen JL, Howell JB. Cutaneous keratocysts of nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 1986; 14: 572–576. 4 Motegi S, Nagai Y, Tamura A, Ishikawa O. Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature. Dermatology 2008; 216: 159–162. €nder S, Metze D. Histologic and immunohistochemical 5 Tirado M, Sta characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts. Am J Dermatopathol 2014; 36: 892–898.

© 2015 Japanese Dermatological Association

Case of nevoid basal cell carcinoma syndrome with multiple cutaneous keratocysts.

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