Pilomatrixoma of the breast in a patient with type 1 myotonic dystrophy: successful surgical approach.

Malherbe’s calcifying epithelioma is an uncommon cutaneous tumour that originates from the matrix cells of hair follicle. It was initially described by Malherbe as a benign calcifying epithelioma. Several ultra-structural and electron-microscopic studies later demonstrated its origin from matrix cells and the term pilomatrixoma was introduced. The treatment of this tumour remains mainly surgical. Malignant cases with post-surgical recurrences have been described in literature and recurrences have been related to an incomplete surgical treatment or tumour aggressiveness. We present the case of 31-year-old female patient with pilomatrixoma of the breast, which was very similar to fibroadenoma, in terms of size and other clinical features. We successfully treated this patient surgically, and the aesthetic results were good, despite the proximity of the tumour to the areola-nipple complex. Fifteen months later, the patient is doing well, free of any clinical local recurrence.

5-hydroxytryptamine and Lyme disease. Opportunity for a novel therapy to reduce the cerebellar tremor?

Lyme boreliosis is caused by the spirochete Borrelia burdorferi, which is transmitted by ticks. A 59 year-old woman developed pyrexia, strong headaches, ataxia, dysarthria and tremor of the limbs after a tick bite. She was unable to work and eat on her own. She was hospitalized three times and diagnosed with cerebellar intention tremor, cerebellar ataxia, dysarthria, bilateral horizontal gaze paralysis and a central lesion of the left facial nerve. There were no pyramidal, sensory or psychiatric disturbances. The brain MRI showed multifocal leucoencephalopathy with many hyperintense areas in both hemispheres, as well as in the left superior pedunculus cerebellaris. Diagnosis was confirmed by serologic examination. Treatment with cephtriaxone, doxycycline, methylprednisolone, cephixime and ciprofloxacine was administered without effect on the tremor, ataxia and horizontal gaze paralysis. Treatment was then administered with 5-hydroxytriptamine (5-HT) in increased doses. The result of the three-month treatment with 5-HT was a gradual diminution of the tremor and the ataxia and an increase in the ability to eat, walk and work independently.

Coexistent trichilemmoma and trichoblastoma without associated nevus sebaceus.

Trichilemmoma and trichoblastoma are benign adnexal neoplasms derived from the hair follicle unit. While trichilemmomas are closely associated with the epidermis, trichoblastomas are found within the dermis and subcutaneous tissue. Both tumors have been reported to arise within nevus sebaceus of Jadassohn (NSJ). We present a 42-year-old white male with a 5 mm crusted, erythematous papule on the right occipital scalp that had been present for years. A shave biopsy was performed and read as trichilemmoma involving the biopsy base. The patient returned for follow-up 2 months later with recurrence of a crusted papule, measuring 9 mm in greatest diameter at the site of the previous biopsy. The lesion was excised for complete histologic evaluation, diagnosed as trichilemmoma with verrucoid features and associated basaloid proliferation with adnexal differentiation, again involving the biopsy base. The lesion recurred 2 months later in the form of an 8 mm multilobulated pink nodule. It was again excised and diagnosed as trichoblastoma with overlying trichilemmoma. The significance of this finding is that coexistent lesions do not necessarily necessitate a preexisting nevus sebaceous. Rather, this finding supports the notion of a common stem cell capable of differentiating toward the various portions of the hair follicle unit and adnexal structures. The idea is that any portion of the skin adnexal structure may develop out of a pluripotential germ cell and develop into a tumor.

Isolated CMV infection causing perianal and sacral ulceration in a patient with aids.

Cytomegalovirus (CMV) is a DNA virus estimated to infect 70-90% of the world’s population, producing minimal symptoms in immunocompetent hosts. In the immunocompromised host, CMV infection can be potentially fatal, producing systemic or localized forms. We report the case of a 52-year-old female with acquired immunodeficiency virus (AIDS) who presented multiple sacral and perineal ulcers clinically and histopathologically consistent with CMV ulcerations. We discuss the patient’s clinical presentation and histologic findings to remind physicians to consider CMV as a cause for cutaneous and systemic infection in the immunocompromised host.

Biofibre hair implant – impact on the quality of life.

Body image refers to how we feel about our bodies. It does not refer to what we actually look like, but rather to our perceptions, opinions and ways of thinking about our appearance. How we feel about our appearance is part of our body image and self-image. The hair is a significant part of this image. The problem of alopecia affects both sexes and all ages with significant sequelae. Along with androgenetic alopecia, there are forms of alopecia of various origins: traumatic, surgical, pharmacological and others. Polyamide artificial hair implant (Biofibre®) is one of the current techniques used to treat this problem.

Biofibre hair implant: what is new, what is true?

Ensuring the safety of hair implant fibers is essential. At the same time, good aesthetic quality and durability should also be considered in order to maintain expected result over the years. The main features required are biocompatibility, resistance to traction, absence of capillarity, resistance to physical-chemical stress, and low tissue trauma, in addition to good aesthetics. Biofibre® medical hair prosthetic fibers meet all the biocompatibility and safety requirements established by international standards for medical devices. They are available in 13 colors, with different lengths (15, 30 or 45 cm) and various shapes (straight, wavy, curly and afro). Biofibre® hair implants are indicated for diffuse hair loss or hair thinning in cases where an immediate aesthetic result is required, when patients request minor surgery without hospitalization, both for male and female patients, in combination with other hair restoration techniques to improve the final aesthetic result, to correct scars or scalp burns and in cases of poor donor areas. Biofibre® Hair Implant is in fact a minor surgery technique, performed under local anesthesia by either a manual implanter or an automatic machine which enables an immediate aesthetic result and the desired quantity of hair without pain or hospitalization. Clinical and histological studies have demonstrated that Biofibre® hair Implants are safe and well tolerated by patients and can be totally reversible if the need arises. This technique requires good after-care, periodical check-ups and yearly implant re-touches to maintain the best cosmetic result.

Langerhans cell sarcoma: an unusual microscopic presentation.

A 70-year-old Caucasian male presented to our clinic for a pruritic eruption progressing over several months. He complained of fatigue with a 20-pound weight loss over the past year. On presentation, the patient had browny-yellow to violaceous, purpuric, macular and papular lesions on the legs, arms, lower abdomen and back. Initial biopsy showed an angiocentric infiltrate with a suggestion of intraluminal proliferation; CD31 and Fli-1 positivity suggested either reactive angioendotheliomatosis or an unusual intravascular histiocytosis. Further excisional biopsies demonstrated perivascular collections of cells with ample cytoplasm, prominent nuclear pleomorphism and mitotic activity. The nuclei demonstrated nuclear folding, grooves and indentations. The atypical cells were S100, CD1a and CD56 positive with immunohistochemistry. A diagnosis of Langerhans cell sarcoma (LCS) was made. LCS is a rare, aggressive malignancy that can involve multiple organs including the skin, lymph nodes, lung, bone marrow, spleen, heart, and brain. The skin and lymph nodes are commonly involved, and the cutaneous presentation varies greatly. Immunohistochemistry characteristically shows CD1a and S100 positivity. CD56 expression is uncommon and often portends a poor prognosis. There is no established treatment of LCS due to its rarity. Surgery, radiation, and chemotherapy have been used with varied outcomes. Our patient was treated with prednisone with improvement of cutaneous disease. He did not develop systemic involvement, but died 1.5 years later from complications associated with heart failure. Langerhans cell sarcoma should be considered when faced with an unusual angiocentric infiltrate in which initial immunohistochemical staining results may be misleading.

Uncommon clinical presentation of Kimura’s disease as bilateral retroauricular masses in a young Malian male: successful surgical approach.

We present a case of a 27 year-old Malian male referred to our hospital for two large, painless retroauricolar masses that had appeared two years earlier. Bilateral cervical painless lymphadenopathy was present at physical examination, without any other systemic symptoms. His history was relevant for bilateral Kimura’s disease lesions resected 5 years earlier in the same locations. Lymphocytosis and a mild hypereosinophilia were found in routine blood tests, together with increased total IgE levels. After surgery, histology showed lymphoid infiltrates with reactive prominent germinal centres containing eosinophils, suggesting relapse of Kimura’s disease, in the context of nonencapsulated fibrous proliferation with discontinuous collagen fibers, consistent with keloid. Three months after removal of retroauricular masses, abnormal laboratory findings reverted to normal. To the best our knowledge, this is the first case in literature of bilateral keloid lesions developed after surgery for Kimura Disease and harbouring its histopathologic features. Clinicians should be aware of these unusual reactive phenomena and their possible simulators.

Interstitial granulomatous dermatitis demonstrating small, discrete skin-colored papules.

We report the case of a 67-year-old female with a rare variant of interstitial granulomatous dermatitis showing multiple skin-colored papules. Clinically, numerous skin-colored or reddish papules were distributed on her back and posterior thighs with itchy scaly erythema on the upper back. After topical steroid application, skin-colored papules still remained after the disappearance of itchy scaly erythema. Histopathologically, perivascular and interstitial infiltration of lymphocytes and histiocytes with occasional multinucleated giant cells were observed in the superficial and mid reticular dermis, accompanied by mild mucin deposition. Interstitial granulomatous dermatitis is similar to interstitial granuloma annulare, but can be differentiated from it by lesser degrees of collagen degeneration with mucin deposition and frequent association with arthritis or rheumatic diseases. As previously reported, multiple asymptomatic skin-colored papules are considered a rare but distinct variant of interstitial granulomatous dermatitis. Although no apparent underlying disorder has developed in the presented case, careful follow-up needs to be continued.

Sarcoidosis exclusion criteria: the “simple truth” for a “complicated diagnosis”.

The differentiation between sarcoidosis and sarcoid-type reactions remains a clinical and histopathologic diagnostic dilemma. A definitive distinction is yet to be determined according to the current literature data. Sarcoid-like tissue reactions with identifiable infectious or other immunogenic antigens, should be classified as non-specific clinical manifestations of a specific disease. The current assignment of this type of reaction under the generic umbrella of “sarcoidosis” is incorrect and may result in the subsequent misinterpretation of the definition of the disease in general. On the other hand, this may lead to clinical studies with incorrectly selected inclusion criteria and, therefore, contradictory statements regarding the epidemiology and pathogenesis of the disease. Thus we propose the introduction of new criteria for exclusion of sarcoidosis as an autonomous disease. Recent trials on patients with probable sarcoidosis have focused on ideal criteria, or have provided information about the genetic and immunological profile of patients with specific infections or other diseases, which manifest themself as sarcoidal granulomas. This could explain the heterogeneous clinical and/or genetic profiles of the reported patients, who in fact were not affected by the autonomous disease “sarcoidosis”. The simplification of the current available data regarding this issue will be of fundamental importance for the correct direction of future studies, whose aim is to unravel the pathogenesis of the immunological cascade in patients with sarcoidosis and sarcoid-like type of reaction. It is expected that the introduction of exclusion criteria will inevitably lead to a change in the approach to diagnosis as well as the fundamental understanding of this mysterious disease, known as sarcoidosis.

Acute overnight painful swelling of a finger.

Gouty tophus represents а specific clinical substrate of а specific metabolic disease which requires specific treatment in order to reduce the levels of serum urate. Although curable, the painful tophi enlarge slowly and the time-depending response to the standard anti-gout therapy is longer, which significantly worsens the quality of life of those patients. We present the case of a patient with painful gouty tophus, which was eradicated by a micro invasive surgical technique, leading to an immediate positive effect on the pain symptoms. The performance of surgical techniques for excision of gouty tophus should be considered in all patients with strongly pronounced painful symptoms as well as those who show functional disorders caused by the painful swellings. Although not specific for this disease, the application of this therapeutic option produces substantial and immediate improvement of the painful symptoms and the quality of life of these patients.

Sarcoid sine sarcoidosis? A classificative, semantic and therapeutic dilemma.

Differentiation between sarcoidosis and sarcoid type reactions at the present time remains problematic, if not impossible. Criteria for clinical behavior and/or a systematic diagnostic approach in cases of proven epithelioid cell granulomas in lesional tissue do not currently exist. This is probably the main reason for chronicity of the sarcoid-type reactions within a specific disease or for their progression with the application of incorrect therapy. The refinement of the diagnostic criteria and the classification of both conditions remain objects of further consideration. We present a model for recommendations for an optimal diagnostic approach in patients with epitheloid cell granulomas, aiming to facilitate the differentiation between sarcoidosis and sarcoid type reactions, hopefully leading to optimization of subsequent therapy.

Sarcoid type reaction: medical hypotheses.

Sarcoid-type reactions could not always be clearly distinct from the independent disease sarcoidosis. Particular attention should be paid to paraneoplastic type of sarcoid reaction which until recent literature was characterized as 1) sarcoidosis associated with tumor disease or 2) sarcoidosis classified and presented as paraneoplastic disease. The analogy between sarcoidosis and paraneoplastic type of sarcoid reaction are the pure epithelioid cell granulomas. The role of molecular mimicry in paraneoplastic type of reaction is probably significant but not yet fully proven and understood. Future studies on this issue should be directed to identify the genetic defects (regarding the inflammasome and those recently established at EOS and Blau Syndrome) as well as screening programs for early detection of cancers, with a view to optimization of the subsequent therapy.

Desmoplastic malignant melanoma associated with pigmented ocular tumor: second documented problematic case from the board of “adcrstr-association for dermatohistopathologic control, re-evaluation and subsequent therapeutic recommendations”.

Malignant melanoma is the most malignant skin tumor, whose incidence is rising gradually. It usually occurs in pre-existing lesions in photo-exposed areas of the skin, and, despite its occurrence across a broad age range, its appearance prevails among the elderly. It has a tendency to metastasize rapidly. Secondary lesions are often located on mucous membranes including the conjunctiva, which in turn leads to higher mortality. Despite significant achievements in tumor diagnostics, explicit verification of a possible malignant melanoma is achieved by surgical removal of the lesion and its subsequent detailed histopathology. The prognosis for patients is determined by the stage of the primary tumor, tumor thickness and the presence or absence of additional risk factors, respectively. We present the case of a 39-year old female patient who was diagnosed with malignant melanoma of the left shoulder with a tumor thickness of 1 mm. No further microscopic prognostic criteria were described in the histological report. The lack of additional histopathological criteria in the pathologist’s report, such as mitotic activity and angio-lymphatic invasion from a lesion with this sort of tumor thickness, is followed almost always by risky or inadequate diagnostic and therapeutic decisions that may have fatal consequences for patients. The newly created Association for Dermatohistopathologic Control, Reevaluation and Subsequent Therapeutic Reccomendation in Sofia, Bulgaria aims to focus attention on these errors, in order to promote a unified histopathologic assessment of skin tumors in accordance with generally accepted European and World standards. This should ultimately help the clinician by increasing the efficiency of subsequent diagnostic and therapeutic decisions.

Are microscopic satellites in melanoma indicative of lymphovascular invasion? A preliminary case study.

Microscopic satellites (microsatellites) in primary melanoma are defined as one or more discontinuous nests of neoplastic melanocytes measuring more than 0.05 mm in diameter that are clearly separated by normal dermis (i.e., no fibrosis or inflammation) from the main invasive component of the melanoma by a distance of at least 0.3 mm. Long considered an adverse prognostic variable, there has been debate about whether these satellites in fact represent lymphovascular invasion. In this preliminary study, 6 cases of primary cutaneous melanoma containing microsatellites were stained immunohistochemically for endothelial cells, using the markers CD31 and D2-40 (podoplanin, a marker of lymphatic endothelium). In none of the cases was positive staining found to surround the tumor deposits. In one case that also showed independent lymphovascular and perineural invasion, a small CD31 positive vessel within the microsatellite was found to contain tumor cells. The possible significance of these findings is discussed.

Life-threatening onychomycosis imitator.

Although onychomycosis is one of the most common dermatological conditions, the exact diagnosis should be carefully confirmed, especially in therapy-resistant cases. Considering the potential for development of various nail disorders that could resemble the clinical picture of typical onychomycosis, the performing of a diagnostic biopsy is sometimes of paramount importance, in order to exclude the possibility of a life threatening onychomycosis imitators. Here, we present a case of subungual malignant melanoma, diagnosed by histological examination in a patient who had received long term, ineffective treatment for onychomycosis.

Vascular neoplasm or pseudovascular nevus? Potential pitfalls in diagnosis.

Melanocytic nevi, on histopathologic evaluation, occasionally contain slit-like clefts or spaces that may resemble vascular or lymphatic spaces. The spaces may contain blood or, perhaps more concerning, nests of melanocytes that could suggest lymphatic invasion of melanoma. When lined by melanocytes rather than true endothelium, these pseudovascular spaces within melanocytic nevi are generally attributable to tissue processing artifact. When the space in question is pronounced, a proper diagnostic work-up is prudent in order to exclude a true vascular neoplasm or melanoma. In this case series we present several melanocytic lesions with prominent vascular-appearing spaces that warranted further investigation.

A case of perforating folliculitis in association with antisynthetase syndrome.

Perforating folliculitis (PF) describes the process by which altered dermal material is eliminated from the epidermis through a follicular unit resulting in keratotic, follicular papules that favor hair-bearing regions of the forearms, arms, buttocks, and thighs. Diabetes mellitus (DM) and chronic renal failure (CRF) are commonly associated with PF. The more general term, acquired perforating dermatosis, has been applied to PF as well as Kyrle’s disease and the non-inherited form of perforating collagenosis. In this report, we describe an instance of PF that arose in the setting of preexisting antisynthetase syndrome.

Heel melanoma: the final result of wrong diagnostic and therapeutic approach in another bulgarian patient. First documented case from the board of the “adcrstr-association for dermatohistopathologic control, reevaluation and subsequent therapeutic recomme.

Difficulties with frequent misdiagnoses and incorrectly defined tumor thicknesses applied to the same histopathological preparation occurring among Bulgarian patients, has led to the creation of national and/or international associations or boards for control in problematic circumstances, particularly for patients with melanocytic and non melanocytic cutaneous tumors. Once again we report a problematic case of a patient with acral lentiginous melanomа, localized in the heel area of the right foot, in an otherwise healthy 69-year old woman. A pigmented lesion gradually developed in her heel area, where the patient had been previously treated several times with invasive therapeutic methods (cryosurgery, shave curettage) due to misdiagnosis as a verrucous lesion or as a viral wart in the absence of any prior histopathology report. Years later, the lesion progressed and changed in color, leading to surgical removal, followed by several histopathological evaluations that produced very different results on three separate occasions. The first result described the lesion as melanocytic nevus, and removed with tumor-free margins. The second report from the Department of Dermatology and Venereology, Military Academy in Sofia , Bulgaria, stated “no data for Verrucous carcinoma”. Only on the third assessment the correct diagnosis of “malignant melanoma” was given. A relapse of the melanoma occurred as only at the time of the last histopathologic evaluation, (following surgical resection of the lesion with adequate margins, performed in the “Onkoderma”- Policlinic for Dermatology, Venereology and Dermatologic Surgery, Sofia, Bulgaria) were criteria followed for appropriate pathological evaluation consistent with the recommendations of the AJCC for reporting of melanomas. Tumor thickness at that time was 1.31 mm. Removal of the draining lymph node, followed by inguinal lymphadenectomy was performed in the National Oncological Hospital in accordance with the recommendations of the AJCC. Unfortunately disease progression was observed with loco-regional lymph node involvement. Systemic therapy with interferon was planned. The incorrect therapeutic approach in this patient, as well as the several subsequent misdiagnoses that were made in the leading pathology departments of the capital, undoubtedly helped lead to the creation of a national board with international participation in order to minimize errors in the diagnostic and therapeutic approach in dermatology, surgery and histopathology. The already-created Association for Dermatohistopathologic Control, Reevaluation and Subsequent Therapeutic Recommendations-ADCRSTR, aims to take control of histopathological preparations with wrong diagnoses and subsequent therapy in patients with cutaneous tumors, as well as their documentation. Another task of the Institution is to focus on the preservation and protection of the rights and interests of affected patients.