Presternal Dermoid Cyst Mimicking Lymphatic Malformation: a Case Report and Review of the Literature

Abstract: We describe an 11‐month‐old boy with an unusually large presternal mass present since birth. The large size, fluctuant properties, transillumination, compressibility, and imaging of this lesion were characteristic of a lymphatic malformation. Although four treatments with sclerotherapy markedly reduced its size, it was not until definitive treatment with surgical excision and the final pathology report that we arrived at the ultimate diagnosis of dermoid cyst. Dermoid cysts, although appearing along embryologic lines of closure, are rarely presternal. They are usually small, thick walled, and filled with sebaceous or keratinous fluid, which typically allows for clinical diagnosis, and show characteristic features on magnetic resonance imaging (MRI) and ultrasound. However, this case illustrates that dermoid cysts can appear in somewhat atypical locations, and imaging is not always diagnostic, so dermoid cyst should remain a part of the differential diagnosis for any lesion presenting midsternally, regardless of the size and imaging characteristics.     

An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.     

Herpes Zoster Duplex Bilateralis in an Immunocompetent Adolescent Boy: A Case Report and Literature Review

Simultaneous involvement of herpes zoster in multiple dermatomes is uncommon, and even more so in immunocompetent individuals. We report a case wherein a healthy adolescent boy presented with herpes zoster in two distinct dermatomes, raising concern for immunodeficiency, but he was found to be immunocompetent on further testing. A 14‐year‐old boy with no significant past medical history developed painless vesicular eruptions in two distinct distributions. Varicella zoster virus polymerase chain reaction was positive from unroofed vesicles in both regions. Initial laboratory studies disclosed abnormalities of unknown significance in natural killer (NK) cell percentage and function. The patient was treated with appropriate antiviral therapy. Repeat studies while healthy were not suggestive of an underlying NK cell defect. There are few case reports describing herpes zoster in two or more dermatomes in children. Previously described presentations most commonly occurred in the context of primary immunodeficiency, acquired immunodeficiency, or immunosuppressive medications. Because of the rarity of this presentation in immunocompetent patients, the authors recommend a thorough immune evaluation of all children presenting with isolated multidermatomal zoster.     

Congenital Malalignment of the Great Toenails: Case Report and Literature Review

A 10-year-old black boy had congenital malalignment of the great toenails (CMGTN). It is important to recognize this condition since several nail disorders can occur concurrently with and/or clinically mimic it. Treatment is dependent on the severity of the condition, and includes conservative management and subsequent examination to detect CMGTN-associated complications for patients with mild lateral deviation of the nail plate, or surgical realignment for individuals with either marked nail plate deviation or condition-related disabling sequelae.     

Macrocephaly-Capillary Malformation: A Report of Three Cases and Review of the Literature

Abstract:   Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC) is a rare syndrome that was first delineated as distinct from Cutis Marmorata Telangiectatica Congenita (CMTC) in 1997. Since that time, there have been over 75 cases reported in the literature, though few are in the dermatology literature. The syndrome is characterized by macrocephaly, neonatal hypotonia, developmental delay, segmental overgrowth, syndactyly, asymmetry, connective tissue defects, and vascular stains. We report three new patients seen at the University of Miami Genodermatoses Clinic with features of M-CMTC. We believe the skin findings in our patients and in the previously published cases of M-CMTC are more consistent with capillary malformations rather than true CMTC. Therefore, we agree with recent publications that this condition be renamed Macrocephaly-Capillary Malformation (M-CM). The differential diagnoses for patients with M-CMTC include Klippel Trenaunay Syndrome (KTS) and Proteus or Proteus-like syndromes. Given the significant prognostic and likely genetic differences among these conditions it is important to distinguish M-CMTC from these syndromes.     

Phakomatous Choristoma in a 10‐Week‐Old Boy: A Case Report and Review of the Literature

Phakomatous choristoma (PC) is a rare benign congenital lesion of lenticular anlage. It presents in young patients as a firm subcutaneous mass in the medial eyelid or orbit and may raise clinical concern for neoplasms such as rhabdomyosarcoma, but its histopathology is distinct, consisting of dense collagenous stroma and eosinophilic cuboidal epithelial cells forming nests, tubules, cords, or pseudoglands. We present a case of PC in a 10‐week‐old boy to illustrate the unique clinical, histopathologic, and immunophenotypic features of this condition and to reaffirm that familiarity with this rare entity aids accurate diagnosis.     

Cutaneous Sparganosis: A Case Report and Literature Review

A sixty‐nine‐year‐old male patient, without a significant prior medical history, presented with a rapidly enlarging, 2 cm non‐tender nodule on the right lower eyelid. The lesion persisted in spite of an incision and drainage. Following an excision, the histology revealed a diffuse infiltrate of atypical mononuclear cells within the dermis. The cells were large, monomorphic, with irregular to convoluted nuclei, prominent nucleoli, amphophilic cytoplasm. They were very mitotically active. Immunohistochemical stains for CD45, CD3, and CD30 were strongly positive. Pancytokeratin, CD20, and ALK (Anaplastic Lymphoma Kinase fusion protein) were negative. The histopathologic diagnosis was CD30 (Ki‐1) positive anaplastic large cell lymphoma. The margin was positive for involvement by lymphoma. The lesion was re‐excised with no evidence of residual involvement by lymphoma. A primary cutaneous anaplastic large cell lymphoma was favored over systemic involvement based on the clinical presentation of a single eyelid nodule and ALK negativity. He was referred to a hematology‐oncologist for further management. Anaplastic large cell lymphoma is a distinctive type of malignant lymphoma with a relatively favorable prognosis. It frequently involves the skin, however, to the best of our knowledge, presentation of this lymphoma type as a single lesion on the eyelid is extremely rare.     

Syringocystadenocarcinoma Papilliferum: A Case Report and Review of the Literature

Syringocystadenocarcinoma papilliferum (SCACP) is a rare malignant adnexal neoplasm, which is considered as a malignant counterpart of syringocystadenoma papilliferum (SCAP). Clinically, SCACP appears as a nodule, inflammatory plaque, or tumor. The lesion is usually covered with crusts, which are formed by secretion of the apocrine epithelial cells. Histologically, SCACP resembles SCAP, with cystic papillomatous invaginations connected to the skin surface by funnel-shaped structures lined by infundibular epithelium. The stroma of the tumor consists of a dense inflammatory infiltrate of plasma cells and lymphocytes. SCACP differs from SCAP in terms of the architectural and cytological features of the tumor cells, and is characterized by higher nuclear cytoplasmic ratio, nuclear irregularity, coarse chromatin, and increased mitotic activity. However, the immunohistochemical findings of SCACP vary. Since only 49 cases of SCACP have been reported in the English literature, the clinical and histologic characteristics of SCACP have not been fully established. Further studies on the diagnostic criteria for SCACP are warranted. Here, we report a rare case of SCACP and present a review of other relevant literature.     

Cockarde Nevus: A Case Report and Review of the Literature

Benign acquired melanocytic nevi usually display an even and uniform architecture and coloration easily recognized by the dermatologist. The cockarde nevus, a variant of the melanocytic nevus, is an exception. It displays a targetlike morphology with histologic characteristics of a compound nevus. We believe because the lesion has been rarely reported in the American literature, it is often mistaken in this country for a dysplastic nevus.     

淋巴瘤样丘疹病1例

患者男,27岁。躯干、四肢反复发生暗红色丘疹、结节、坏死、结痂4月余,无痛,偶有瘙痒。皮肤科情况:躯干、臀部及四肢暗红色丘疹、结节,部分中央坏死、破溃,结黑褐色厚痂,留有萎缩性瘢痕或色素沉着。皮损组织病理示:真皮结节状淋巴及大组织样细胞浸润,可见多数异型细胞,约占30%,少数细胞呈双核或多核;免疫组化染色示:CD3(+),CD4(+),CD30(+),CD68(+),CD8个别(+),CD20个别(+),Ki-67约10%(+)。诊断:淋巴瘤样丘疹病。     

Erythematous Papules in a Patient with Cardiac Myxoma: A Case Report and Review of the Literature

A 35-year-old woman was followed up by a physician for one and a half years as a case of transient ischemic attack (TIA) due to thrombosis. She had a few erythematous papules on the dorsal side of her right forearm and on the right side of her neck. From the history of TIA and the transient erythematous papules, we suggested the possibility of cardiac myxoma. Echocardiogram demonstrated a large mass in her left atrium. An immediate operation was carried out, and the cardiac myxoma was excised surgically. Histological examination of the erythematous papule revealed myxoma emboli.     

Congenital Dermatofibrosarcoma Protuberans: A Case Report and Literature Review

Congenital dermatofibrosarcoma protuberans (DFSP) is an extremely rare skin tumor that is commonly misdiagnosed, or is often diagnosed long after the initial presentation. Although many cases of DFSP are diagnosed in adulthood, there are some differences between adult DFSP and congenital DFSP. We report a case of congenital DFSP that was initially misdiagnosed as a simple vascular lesion. The delay in diagnosis led to the considerable growth of the lesion, such that a huge scar was left after the surgical treatment. The major differences between adult and congenital DFSP are discussed through a literature review. Clinicians should be aware of the characteristics of congenital DFSP, to reduce misdiagnosis and the delay of diagnosis from the initial presentation.     

Nivolumab-Induced Alopecia Areata: A Case Report and Literature Review

Nivolumab (anti-PD-1) currently used in many cancers. With the usage of nivolumab increased, many cutaneous side effects were reported including maculopapular rash, lichenoid reactions, vitiligo, bullous disorders, psoriasis exacerbation, and alopecia areata (AA). Here, we report AA after nivolumab for treatment of hepatocellular carcinomas (HCC). A 55-year-old male presented with multiple hairless patch from 1 month ago. He suffered HCC and treated with nivolumab for 6 months after hepatectomy. He treated for hair loss with triamcinolone intra-lesional injection without improvement. We performed skin biopsy on the scalp. Histopathologic findings revealed decreased of hair follicles on the horizontal section with lymphocyte infiltration on the perifollicular area on the vertical section. Clinicopathologic findings were agreed with AA. Considering lack of previous history of AA and hairless patches with 6 months after nivolumab injection, we diagnosed him as nivolumab induced AA. Treatment included topical steroid, and minoxidil. No regrowth of hair was noted after 4 months of follow-up. Nivolimumab induced AA is rare side effect. Pathogenesis of nivolumab induced AA remain unclear. But our case is likely related to nivolumab, known to induce immune related adverse events, and given in the delay of a few months between introduction and the occurrence of the hair loss. Here, we reports nivolmumab induced AA; rare side effect.     

播散性皮肤组织胞浆菌病1例及文献复习

患者女,31岁。多发性骨关节疼痛伴发热8月,多发性皮肤脓肿4月。脓液及组织真菌培养可见双相真菌荚膜组织胞浆菌,经rDNA的ITS区鉴定该菌与荚膜组织胞浆菌荚膜变种高度同源。诊断:播散性皮肤组织胞浆菌病。予口服伊曲康唑0.2g(2次/d)和5-氟胞嘧啶1g(3次/d)治疗,5个月后患者病情明显好转。并对相关文献进行复习。     

Neutrophilic Eccrine Hidradenitis: A Case Report and Review of the Literature

Neutrophilic eccrine hidradenitis (NEH) is a recently recognized dermatosis occurring in patients receiving chemotherapy for a variety of malignancies. We report the second pediatric case. An 11-year-old boy with non-Hodgkin's lymphoma developed widespread erythematous papulopustules beginning two days after receiving high-dose cytarabine (Ara-C) in preparation for a bone marrow transplant. The lesions spontaneously regressed in two weeks. Histologic examination revealed a neutrophilic infiltrate around and within the eccrine ducts and secretory coils. Bacterial, fungal, and viral cultures were negative. These findings are characteristic of NEH. The condition should be differentiated from infectious dermatoses that may require treatment.     

Bilateral Acromial Dimples: A Case Report and Review of the Literature

Bilateral acromial dimples are uncommon in pediatric dermatology. They are usually found as a sporadic finding with limited clinical symptoms but may cause concern for parents. They can occur spontaneously or be inherited. Bilateral acromial dimples may occasionally be present as part of more complex syndromes. This article reports an 18‐month‐old girl with congenital bilateral acromial dimples and presents a classification of this unusual entity. A literature review of English and non‐English publications was performed. We report the second case of bilateral acromial dimples seen in the context of maternal cocaine use during pregnancy. Our case is probably sporadic and nonsyndromal. We suggest that bilateral acromial dimples be classified as syndromal or nonsyndromal and that nonsyndromal cases be subdivided into inherited and sporadic. Although bilateral acromial dimples can be seen in 18q deletion syndrome, Apert syndrome, Say syndrome, and a recently described syndrome in Brazil, our review of the literature does not support the association with trisomy 9 syndrome. Dermatologists need to be aware of this unusual cutaneous finding and potential syndromal associations. The significance of the association with fetal exposure to cocaine during pregnancy has yet to be determined. The biological mother was not available for assessment for bilateral acromial dimples.     

类风湿性嗜中性皮炎1例并文献复习

报告1例类风湿性嗜中性皮炎。患者女,56岁,躯干四肢红斑丘疹脓疱伴痛痒8个月余。组织病理:浅表结痂,轻度角化过度,局部表皮轻度增生,可见少量角化不良细胞,表皮下脓肿形成,真皮浅中层见较弥漫中性粒细胞浸润,并可见少量嗜酸性粒细胞浸润,血管内皮肿胀伴中性粒细胞浸润,未见明确血管炎改变。诊断:类风湿性嗜中性皮炎。结合病例及相关文献,对此少见病发病机制、临床及病理、治疗等进行综合分析。     

Congenital Lupus with Multiorgan Involvement: A Case Report and Review of Literature

Neonatal lupus erythematosus (NLE) is an autoimmune disease caused by transplacental antibodies that can damage fetal tissue and cause various findings. With the exception of congenital heart block, which can be easily recognized at birth because of neonatal cardiac monitoring during the delivery and immediately after birth, most cases of NLE are recognized within days to weeks of life, but fewer than 10 cases with findings present at birth have been reported. We report the case of a newborn with extensive cutaneous eruption at the time of birth and multisystemic involvement, including hematologic, respiratory, hepatic, and neurologic involvement.     

Syringocystadenocarcinoma Papilliferum in Situ: A Case Report and Review of the Literature

Syringocystadenocarcinoma papilliferum is an exceedingly rare malignant neoplasm of the apocrine glands. There are only about half a dozen cases reported in the literature with one case being an in situ lesion. A 32‐year‐old Nigerian female presented with a 1‐cm, hyperpigmented, slow‐growing verrucous nodule located on her mid‐posterior neck. The lesion had been present since birth. Histopathological examination revealed bilocular cystic cavities with papillary projections lined by double layers of epithelium. The luminal layer was composed of columnar cells with decapitation‐type secretion. The fibrovascular stroma within the papillary projections contains numerous plasma cells with some lymphoid cells. The cystic cavities showed close apposition to the epidermis of the skin with focal, keratinizing squamous epithelium lining that was contiguous to the infundibular epithelium in foci. Necrosis en masse was present within the tumor. There were focal areas of solid aggregates of tumor cells with crowded, pleomorphic, and hyperchromatic nuclei. Many mitoses, some of them atypical, were identified. The tumor was confined within the cystic cavities with no dermal invasion. A diagnosis of syringocystadenocarcinoma papilliferum in situ was made.