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.

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.

Deep facial mycosis due to Trichophyton verrucosum-molecular genetic identification of the dermatophyte in paraffin-embedded tissue-case report and review of the literature.

Deep trichophytosis is relatively uncommon. The infection of the bearded area is also known as sycosis barbae or tinea barbae and can be caused by various fungal species, most often zoophilic fungi. We report on an 80-year-old male patient with severe sycosis barbae who had no animal contact and was treated with systemic antibiosis without improvement. Microbial and mycological investigations using swabs from oozing lesions revealed Staphylococcus haemolyticus and Candida parapsilosis. Histology demonstrated fungal elements in hair follicles. Paraffin-embedded material was subjected to further mycological analysis. For molecular diagnostics DNA was prepared from paraffin sections for real-time polymerase chain reaction (RT-PCR). For sequencing, DNA was isolated from paraffin-embedded skin tissue and the ITS region of the rDNA was selected. Sequencing of the ITS2 region of rRNA revealed a 100% accordance with Trichophyton (T.) verrucosum. Treatment with oral terbinafine achieved a complete remission. Sycosis barbae is an important differential diagnosis for infections of the bearded area. Nucleic acid amplification techniques (NAAT) are more and more used for direct examination of dermatophytes in clinical samples, eg T. verrucosum. NAAT are also used as culture confirmation tests for identification of rare dermatophytes like T. verrucosum. Today, singleplex and multiplex quantitative real-time PCR (qRT-PCR) assays for the detection of the most common dermatophytes including T. verrucosum in clinical specimens are available. Recently, an ITS2 PCR assay has been successfully used for direct detection of T. verrucosum in paraffin-embedded formalin-fixed skin tissue. The PCR is fast and highly specific. The sensitivity of direct molecular detection of the dermatophytes both in native clinical material, and in paraffin-embedded skin tissue can been increased.

Cutaneous Langerhans cell histiocytosis : The spectrum of a rare cutaneous neoplasia.

Langerhans cell histiocytosis (LCH) is a rare disorder that is now recognized as a true malignancy of dendritic Langerhans cells. Various somatic mutations have been discovered for BRAF and MAP kinases. The clinical variability is remarkable. A very rare variant is cutaneous LCH without internal organ manifestations. We present a case series of cutaneous LCH illustrating the spectrum of clinical symptoms, treatment, and disease course. Cutaneous LCH needs a careful investigation of possible internal involvement and a long follow-up since second malignancies may develop over time. Overtreatment should be avoided, since too-aggressive treatment will not improve the outcome.

Rare association of cystic squamous cell carcinoma and small lymphocytic B cell lymphoma: successful surgical approach.

Non-melanoma skin cancer is the most common type of cutaneous neoplasm worldwide. While basal cell carcinoma is the most common tumor, squamous cell carcinoma (SCC) causes higher morbidity and has a risk of metastatic spread, depending on immune status, tumor size, and desmoplastic growth. We reported the case of a 77 year old male patient with retroauricular tumor, which started growing 3 years ago and was excised, buth relapsed three times. The initial diagnosis was infundibular cyst. Delayed Mohs surgery was performed, as was an additional open lymph node biopsy of the patient's right groin, on the occasion of an indolent swelling of the same which developed within 3 months. The first histopathological report confirmed the diagnosis of a cystic squamous cell carcinoma. The histopathologic evaluation of the groin tumor revealed a small lymphocytic B cell lymphoma (BCL). The patient fulfilled the following criteria for high-risk SCC: tumor size ≥2 cm (or 1 cm on the head and 6 mm on the genitals, hands, and feet), tumor thickness ≥4 mm, recurrent tumor, rapid growth. Therefore, lymph node metastasis had to be considered. High-risk SCC has a propensity to metastasize. In cases of primary tumor, Mohs surgery is the most effective treatment, particularly in relapsing tumors. The combination of cystic SCC with a small-sized BCL is very rare. The differential diagnosis and treatment may be challenging. In high-risk SCC, lymph node enlargement warrants histologic evaluation. However, not all suspicious lymph node lesions corroborate as metastatic.

Sentinel lymph node biopsy in early melanoma-comparison of two techniques for sentinel removal.

BACKGROUND: Sentinel lymph node biopsy is an established technique for melanoma staging. OBJECTIVE: There are no studies available comparing different techniques for the removal of sentinel lymph nodes related to safety and postsurgical complication rate. METHODS: This is a retrospective single-center trial. We analyzed the postsurgical complications in 201 consecutive melanoma patients with ligature of lymphatic vessels by sutures (group A) and in 91 consecutive patients with occlusion of lymphatic vessels by bipolar tweezers (group B). We paid particular attention to complications related to disturbed lymphatic function, such as lymph edema, lymphatic fistula, and seroma. RESULTS: The complication rate was 5.5 % (group A) and 9.6 % (group B) which is in the range of other published trials (p = 0.89). There was no increase of complications related to lymphatic vessels in group B, although the rate of patients with more than two sentinel lymph nodes removed was 5­times higher than in group A. CONCLUSIONS: Removal of sentinel lymph nodes with the use of bipolar tweezers does not increase the risk of postsurgical complications, and in particular it is not associated with a higher rate of complications related to lymphatic vessel dysfunction.

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.

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).

Successful treatment of relapsing disseminated coccidioidomycosis with cutaneous involvement with posaconazole.

A 52-year-old woman with pulmonary sarcoidosis on immunosuppressive therapy developed pulmonary infiltrates and cutaneous granulomatous abscesses after a trip to the USA in April 2005. A hyphomycete was identified, further characterized by a gene probe as Coccidioides spp. and then definitively identified as Coccidioides posadasii by polymerase chain reaction and sequencing. Antibodies towards Coccidioides spp. were detected. The infection was successfully treated with posaconazole (Noxafil), 2 x 400 mg/d.

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.