Cutaneous borreliosis in children - a challenging problem.

Borreliosis, also known as Lyme disease, is a vector-borne disease caused by different species of the Borrelia burgdorferi complex. It is frequent in Europe and Northern America. The major vectors are ixodoid ticks. Paediatric borreliosis is common and peaks in children between five to nine years. In Europe, the leading symptom of early infection is erythema migrans, in contrast to Northern America where arthritis is the dominating clinical finding. In this review, we focus on Europe, where cutaneous borreliosis is mainly caused by infection with B. afzelii. The cutaneous symptoms include erythema migrans, lymphocytoma, chronic atrophic dermatitis and juxta-articular nodules. In children, lymphocytoma is very common but chronic atrophic dermatitis is rare. Clinical symptoms, diagnosis, peculiarities of childhood disease and treatment are also reviewed. It is important to note that after haematogeneic spread, signs of infection may be non-specific, and this is a challenge for diagnosis.

Morphea after Silicone Implants.

Dear Editor, Silicone is a hydrophobic polymer containing silicon. Silicon is an essential compound of soft tissue proteoglycans. Reports about morphea and other autoimmune connective tissue disorders in association with silicone implants have stimulated the discussion of a possible link between the two, such as immunological cross-reactivity of silicone and connective tissue components (1). A number of case reports suggested a possible link to adjuvant autoimmune syndrome (2), morphea of the breast (3-5), and systemic scleroderma (6-8), among others. One study measured tissue silicon levels in women with silicone breast implants with and without symptoms or signs and compared these data with women who had either a saline breast implant or no augmentation at all. The authors detected higher levels of silicon in capsular tissue of patients with silicone implants, independent of the presence of any symptoms or signs (9,10). The conclusion was that there is no evidence of an association between silicone implants and autoimmune connective tissue disorders. Three other clinical trials investigating the role of silicone implants and induction of autoimmune connective tissue disorders also failed to find an association between the two (11-13). We report the case of a 32-year-old female patient who developed morphea of the breasts after silicone implants for augmentation after risk-reducing mastectomy for Cowden syndrome. She presented with pronounced capsule fibrosis of the implants. With a delay of several years, an ill-defined slightly hyperpigmented area developed on the breasts and ventral chest (Figure 1). The lesion was analyzed by dermoscopy (Figure 2), which found mild erythema, reduced vessels, and white areas (ill-defined dull white globules, fibrotic beams). A skin biopsy was taken. Histopathological analysis showed a normal epidermal layer, minor papillary edema, and some vascular ectasias in the papillary dermis and upper corium (Figure 3). There was mild perivascular inflammatory infiltrate of the deep dermal vascular plexus, composed of lymphocytes and monocytes with some plasma cells (Figure 4). Elastic fibers seemed unaffected (Figure 5). The diagnosis of an early morphea of the edematous-inflammatory stage was established. Treatment with topical corticosteroids and UVB-311 nm irradiation was recommended. Morphea of the breasts is an uncommon disorder. It may occur after radiotherapy of breast cancer, after silicone augmentation, or without any known cause (14-16). A meta-analysis found an increased risk for morphea/scleroderma, with a relative risk between 1.30 to 2.13 and an odds ratio for case control studies of 1.68 (17). The US FDA Breast Implant Approval Study evaluated almost 100,000 female patients with breast implants. An increased risk of Sjögren's syndrome, scleroderma, and rheumatoid arthritis was reported (18). We could not find any reference of an association between capsular fibrosis and morphea of the breast, although both represent fibrotic disorders. In conclusion, it seems possible that there is a link between morphea of the breast and chest as described herein and silicone breast implants, which is supported by epidemiological studies. However, a direct causal relationship is hard to demonstrate with a single case.

Atypical vascular proliferations of the neck.

Atypical vascular proliferations (AVP) are a late complication after radiotherapy. Most cases have been reported in female breast cancer patients on the chest wall. These lesions are mostly of the lymphatic type. Herein, we report a blood vascular-type AVP in a male on the neck 60 years after radiotherapy for a benign hemangioma, which makes this case exceptional. We removed the whole chronic radiodermatitis surgically. Histopathology excluded vascular malignancies but confirmed AVP. We discuss the differential diagnoses and treatment.

Atypical fibroxanthoma: An analysis of 105 tumors.

Atypical fibroxanthoma (AFX) is a rare, low-grade dermal sarcoma. We analyzed our files from January 2001 to January 2020 for AFX. Clinical parameters, histopathology, treatment and outcome have been investigated. We identified 87 patients (mean age of 80.0 ± 8.4 years) with 105 confirmed tumors. Of these patients 86.2% were males. The most common clinical presentation was nodular (93.3%). The majority of AFX was located on the head with a mean tumor diameter of 15.0 mm ± 3.5 mm. All tumors showed a dermal localization, in 46.4% with a focal infiltration of the deeper layers. Second skin cancer was reported in 62.1% of patients. Collision tumors were seen in six patients. Treatment was surgical with three-dimensional margin control. Relapses were noted in 11.4% of tumors with a mean delay of 11.7 ± 17.3 months. Focally deeper infiltration of AFX was a risk factor (P = .014). None of the purely dermal AFX relapsed. No metastasis was observed. AFX is a rare mesenchymal tumor of elderly patients. Treatment of choice is the complete surgical excision. Due to the high rate of other skin malignancies among patients with AFX, a regular follow-up is recommended.

Plexiform Neurofibroma Without Neurofibromatosis Type 1.

Dear Editor, Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles. It is most commonly reported in patients with neurofibromatosis type-1 (NF-1) and represents in up to 30% of NF-1 patients (1,2). Other possible associations include schwannomatosis, multiple cutaneous schwannomas syndrome, and rarely neurofibromatosis type-2 (NF-2) (3). PNF develops as a result of tumor proliferation to all parts of the peripheral nervous system. It may cause functional and cosmetic impairment, pain, and a certain risk of malignant transformation in internal organs in some critical cases (4,5). Malignant peripheral nerve sheath tumors occur in about 10% of NF-1 patients (4,5). NF-1 is caused by mutations in the NF-1 tumor-suppressor gene, which encodes a GTPase-Activating Protein (GAP) that negatively regulates p21-RasNF1 (6). These patients have a predisposition to develop both benign and malignant tumors (6). Isolated or NF-1-associated cutaneous or superficial PNF, however, do not transform into their malignant counterpart (1). We report an isolated case of a plexiform PNF in a 16-year-old girl without NF-1. A-16-year-old Caucasian woman presented with a slow-growing exophytic nodule on her right flank. The tumor was asymptomatic, and tumor removal was requested for esthetic reasons. The patient was otherwise healthy. Her family history was negative for hereditary disorders. She was taking no medications at the time. On examination, a 1.8×1.6 cm large, slow-growing, and asymptomatic exophytic asymptomatic tumor was observed on the right flank (Figure 1). The primary suspicion was a complex nevus tumor type such as nevus sebaceous or nevus lipomatosus. The tumor was surgically removed, and the defect was closed by tissue expansion. Histology revealed a spindle-cell proliferation of S-100 positive cells without cellular atypia and myxoid stroma (Figure 2). The diagnosis of PNF was thus established. Healing was uneventful. There were no clinical signs of NF-1 or NF-2. We reported a case of PNF without NF-1 or NF-2. The diagnosis of an isolated PNF is a very rare event (7-10). In a large study from Lima lasting 33 years, only one isolated PNF not associated with NF-1 was observed. In this patient, PNF developed in the oral mucosa (7). An isolated PNF causing an auricular deformity has been previously observed in a 14-year-old boy (8). In India, a 11-year-old girl with an isolated PNF of the tongue was reported (9). Isolated PNFs are not necessarily limited to children and adolescents but may also occur later in life (10). The gold standard of treatment is surgical intervention. In case of unresectable and painful tumors, interferon alfa is a medical option (11). Other drugs are under evaluation, such as oral selumetinib, a selective inhibitor of MAPK kinase 1 and 2, AZD8055, an ATP-competitive "active-site" mTOR inhibitor, or a BromoDomain-containing protein 4-inhibitor (12,13). In conclusion, isolated PNF is a very rare observation. In case of impairment, surgery - whenever possible - is the preferred treatment option (8).

Eosinophilic Fasciitis - Report of Three Cases and Review of the Literature.

BACKGROUND: Eosinophilic fasciitis is a rare fibrosing disorder of muscle fascia with rapid onset of erythema, induration, oedema and tenderness affecting extremities bilaterally. CASE REPORT: We report three cases of eosinophilic fasciitis in 3 females aged 64, 65 and 73 years, in two of them in association with morphea. They fulfilled the proposed diagnostic criteria. Associated malignancies could be excluded in all of them. They were treated by systemic corticosteroids. In the two females with associated morphea higher prednisolone dosages and a combination with methotrexate was necessary. CONCLUSIONS: Eosinophilic fasciitis is a differential diagnosis of systemic scleroderma. Response to treatment is often delayed. Systemic corticosteroids are the first line therapy. Patients with associated morphea need combined drug therapy, in our patients with methotrexate. There is no close correlation between laboratory signs of inflammation and clinical response to treatment.

Cutaneous Angiosarcoma of Head and Neck - A Single-Centre Analysis.

BACKGROUND: Cutaneous angiosarcoma of the head and neck region is a subtype of cutaneous angiosarcoma with an unfavourable prognosis. Diagnosis is often delayed. PATENTS AND METHODS: The setting is an Academic Teaching Hospital Skin Cancer Center. Eight Caucasian patients could be identified, 5 men and 3 women. Delay to diagnosis was between 12 to 4 months (mean 7.8 ± 2.9 months). The diagnosis was confirmed in all cases by histopathology and immunohistochemistry. Hematoxylin-eosin, Giemsa, PAS, iron and reticulin stains were performed. Endothelial markers such as CD31, CD34, and Ki67 for proliferation assessment were used in all tumours. Other markers used included pan-cytokeratin (CK), CK7, CK20, ERG, CD 40 and c-MYC. Tumours were classified as localised versus multifocal or diffuse form. Tumour staging was performed according to the 8th edition of the AJCC. The mean age of patients was 79 years ± 26.4 years. The male to female ratio was 1.7. Tumour classification was diffuse in 2 patients, multilocular in one and localised in 5 patients. In 5 of 8 patients, a multimodal treatment was performed, one had radiotherapy alone, in another patient surgery was performed, and radiotherapy is planned. The mean OS was 26.4 months ± 24.5 months. CONCLUSION: Cutaneous angiosarcoma of the head and neck is an aggressive tumour with a poor prognosis. Although surgery remains a cornerstone of treatment, the tumour size at first presentation may be too large, and the elderly patients maybe not suitable for extensive surgery. Therefore, multimodal treatment with adjuvant radiotherapy and/ or chemotherapy is necessary. Multimodal treatment offers a better outcome than radiotherapy or chemotherapy alone. Stealth liposomal encapsulated doxorubicin is a therapeutic option for elderly patients with improved safety compared to conventional doxorubicin.

Dermal Pleomorphic Sarcoma of the Scalp - Report of Two Cases.

BACKGROUND: Neoplasias of the UV-exposed head-and-neck area of the elderly include non-melanoma skin cancers of various origin. CASE REPORT: We report two cases of rapid growing exophytic scalp tumors on chronic sun-damaged skin, in one case with a tendency of bleeding. The tumours were removed by wide surgical excision with 3D margin control, and the resulting defect was covered by a meshed split skin graft. Histopathologic examination disclosed a dermal pleomorphic sarcoma in both cases. The staging was unremarkable in both patients. CONCLUSIONS: Sarcomatous tumours of the scalp should be completely excised with a 3D margin control. Dermal pleomorphic sarcoma is a more aggressive variant compared to atypical fibroxanthoma despite some similarities.

A Painful Step - Pendulating Plantar Eccrine Poroma.

BACKGROUND: Eccrine poroma is a benign tumour of eccrine duct epithelium. The usual clinical presentation is nodular. CASE REPORT: We present a 78-year-old man with a painful pendulating flesh-coloured malodorous plantar tumour. Differential diagnoses included telangiectatic granuloma, acrochordon, basal cell or squamous cell carcinoma, cylindroma, amelanotic melanoma, and verruca. Microbiological investigations identified numerous bacteria including Corynebacterium striatum, Streptococcus dysgalactiae, Staphylococcus aureus, Citrobacter koseri. We performed surgery since the tumour hampered his mobility. Histopathology revealed a well-circumscribed tumour composed of cuboidal cells with eosinophilic cytoplasm. Healing was unremarkable. CONCLUSIONS: Pendulating plantar eccrine poroma is a rare clinical presentation of this benign adnexal tumour. Often asymptomatic, in some cases the tumour may become painful. Because of the bacterial colonisation, it could lead to deep soft tissue infections. Malignant transformation is possible. Surgical removal is the treatment of choice.

Large B - Cell Lymphoma of the Leg - Unfavourable Course with Rituximab/Bendamustin.

BACKGROUND: Cutaneous B-cell lymphomas represent about 25% of all cutaneous lymphomas. Peripheral diffuse large B-cell lymphoma of the leg type is the most aggressive subtype seen mainly in elderly patients. Treatment is not standardised. CASE REPORT: An 87-year-old female patient was presented in May 2018 because of the development of painless subcutaneous nodules on the legs since late 2017. On examination, we observed up to 5 cm large erythematous nodules on the legs and a smaller plaque in the left submammary fold. The histology of a skin demonstrated tumour infiltrate that was separated from the overlying epidermis by a grenz zone. It consisted of densely packed, blastoid lymphocytic cells with numerous, and some atypical mitoses. The cells were positive for CD20, CD79A and CD5. Almost 100% of the cells were labelled with Ki67. The diagnosis of a diffuse large B-cell lymphoma (PCLBCL-LT) of the leg was confirmed. Histologic analysis of a bone marrow biopsy demonstrated a hypercellular bone marrow without malignant lymphatic infiltrates. Diagnostic ultrasound of cervical nodes and computerised tomography (CT) scans (native and with contrast medium) of head, neck and trunk excluded an extracutaneous manifestation of the PCLBCL-LT. Treatment with rituximab plus bendamustibe was initiated, but tumour progress was noted after the second course. Suggested palliative therapy with radiation and rituximab was refused. The patient died 7 months after diagnosis. CONCLUSIONS: Although some trials suggested a beneficial effect of immuno-chemotherapy, the prognosis of (PCLBCL-LT) remains poor. Standardised treatment is missing due to the relative rarity of this malignancy.

A Sheep in Wolf's Clothing: Lobular Pyogenic Granuloma Masquerading Nodular Amelanotic Melanoma.

BACKGROUND: Tumor masquerading is a common phenomenon seen in clinical dermatology. While amelanotic melanoma is known to simulate pyogenic granuloma, a benign vascular tumour, the contrary has been reported exceptionally scarce. CASE PRESENTATION: We present a 52-year-old woman with a slow-growing lesion on her right flank, which developed over 12 months. On examination, we observed a large exophytic, easily bleeding tumour on the right flank, that resembled amelanotic malignant melanoma. Histologic analysis after complete excision of the lesion confirmed a pyogenic granuloma of the lobular capillary hemangioma subtype. In the present case masquerading of the lesion went to the better site after histologic investigations despite the delay of diagnosis caused by the patients. CONCLUSION: Nevertheless, the diagnosis of uncertain lesions needs a rapid histologic analysis to gain the best possible prognosis for the patient.

Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) - Two Case Reports and One New Mutation of FH Gene.

BACKGROUND: Reed syndrome or multiple cutaneous leiomyomas with uterine leiomyomas are part of the spectrum of heterozygous hereditary disorders with cutaneous, genital and renal manifestations. CASE REPORTS: We report two female cases of multiple cutaneous leiomyomas with uterine leiomyomas (MCUL) without renal disease, in particular without cysts or papillary renal carcinoma, aged 52 and 55 years, respectively. The diagnosis of pilar leiomyomas was confirmed by histology and immunostaining for smooth muscle actin and desmin. Both females had a hysterectomy in the past because of uterus myomatosus. In one patient, a new mutation of the FH gene was detected, i.e. a heterozygote c1300_1301del (p.Cys434Argfs17) mutation in the exon 9 of the FH gene. CONCLUSION: Since MCUL shares features with the genetic cancer syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC), these patients need a regular follow-up to prevent the late diagnosis of renal cancer.

Erythema Elevatum Diutinum - Two Case Reports, Two Different Clinical Presentations, and a Short Literature Review.

BACKGROUND: Erythema elevatum diutinum (EED) belongs to the spectrum of cutaneous leukocytoclastic vasculitides. EED is a very rare dermatosis presenting with reddish to browning papules and plaques. EED may be associated with infections, hematologic and autoimmune disorders. CASE REPORTS: We present two patients with EED, a 50-year-old woman and a 42-year-old man. While the woman shows an association with colitis ulcerosa, the man had an anti-thrombin deficiency. Treatment was started with oral corticosteroid and dapsone, respectively. In both cases, there was a partial and temporary response. CONCLUSIONS: EED is a rare vasculitis with an unusual clinical presentation and a chronic course. Response to treatment is unsatisfactory and in the long-term run sometimes frustrating.

Giant Squamous Cell Carcinoma on Chronic Lichen Planus on the Ankle - A Case Report and Short Literature Review.

BACKGROUND: Cutaneous squamous cell carcinoma (SCC) is the second most common malignancy of skin. Although a major risk factor is a chronic exposure to ultraviolet radiation, preexistent chronic inflammatory disorders may also possess an increased risk for SCC. That is not the case for cutaneous lichen planus in contrast to oral lichen planus and oral SCC. CASE REPORT: We report the case of an 87-year-old Caucasian woman presenting with a giant verrucous tumour on the left ankle. She suffered from long-standing disseminated lichen planus. Histology confirmed the diagnosis of SCC on partly verrucous lichen planus. The course was complicated due to sepsis. An emergency transfemoral amputation became necessary. The patients survived and could be released into her nursery. A literature review underlined the rarity of SCC on lichen planus of the skin. Most of these rare cases were in patients in their second half of life on the lower legs. Hypertrophic lichen planus was overrepresented. CONCLUSIONS: Although very rare by number, SCC can complicate lichen planus and lead to the life-threatening situation. Atypical verrucous lesions on lichen planus warrant a histologic analysis. Surgery is the treatment of choice for cutaneous SCC.

Dermatomyofibroma-A rare mesenchymal tumor with maintained horripilation.

Dermatomyofibroma is a rare mesenchymal tumor of skin. The major differential diagnosis is dermatofibrosarcoma protuberans. Both lesions are composed of spindle-shaped cells which are CD34-positive. In contrast to the malignant counterpart, the tumor cells in dermatomyofibroma are without any evidence of COL1A1-PDGFB gene rearrangement. We present a case of axillary dermatomyofibroma in a 31-year-old woman. A hitherto undescribed clinical phenomenon is a maintained horripilation in contrast to dermatofibrosarcoma protuberans.