Extrafacial Sites Research Articles

Hidrocystoma-like tumours with RET or ALK fusion: a study of four cases

Hidrocystoma is thought to be a benign retention cyst of sweat ductal units. The lesion is usually located in the periorbital skin; however, lesions with similar histopathological features are rarely observed in extra-facial sites. Herein, we present four cases of hidrocystoma-like tumours in extra-facial skin sites that harboured a RET or ALK rearrangement. This study features a 67-year-old female with a 10 mm-sized digital tumour (Case 1), a 62-year-old male with an 8 mm-sized clavicular tumour (Case 2), a 61-year-old male with a 19 mm-sized digital tumour (Case 3), and an 11-year-old female with a 10 mm-size lower leg tumour (Case 4) as well as five control cases (Cases 5-9) of classical periorbital hidrocystoma. In Cases 1-4, multicystic tumours comprising a two-cell layer of inner cuboidal ductoglandular (p63- and SOX10+/-) and outer flat myoepithelial (p63+ and SOX10+) cells were observed. The inner ductoglandular tumour cells exhibited micropapillary projections and Roman bridging structures. No apparent atypical cells were observed. NCOA4::RET in Cases 1 and 3, CCDC6::RET in Case 2, and SLC12A2::ALK in Case 4 were revealed by next-generation sequencing or Sanger sequencing. In contrast, control cases of classical hidrocystoma (Cases 5-9) did not show intracystic proliferation, abundant cytoplasm, ALK immunoreactivity, or NCOA4::RET detection in the tumour cells. RET/ALK-rearranged hidrocystoma-like tumours are tumour entities that can be distinguished from classical hidrocystoma. This RET/ALK-rearranged neoplasm is benign and is frequently observed in the digits. Future studies will establish the concept, detailed clinicopathological characteristics, and genetic variations of hidrocystoma-like tumours.

Extrafacial Melasma: A Scenario Less Explored.

Background:Extrafacial melasma is a rare presentation, commonly occurring in postmenopausal women with a poor etiological insight and nature of its course. We planned to decipher the natural course of extrafacial melasma based on history questionnaire.Materials and Methods:Patients with diagnosis of extrafacial melasma were recruited. After informed consent, complete history including age of onset, duration, progression, sites of involvement (initial site as well as current site of pigmentation), treatment history, history of drug intake, family history, associated other diseases, and clinical photography and dermoscopy were done.Results:Fifteen extrafacial melasma patients were recruited. All were females with mean age of 51.2 years. History of facial melasma in past was given by 93% of recruited patients. Mean total duration of melasma was 23 years. Ten (66%) patients had centrofacial melasma to begin with, 4 (26%) patients had malar melasma, and 1 (6.6%) had extrafacial melasma as initial presentation. Currently all patients had extrafacial melasma. Mean time for clearance of central face melasma was 18.2 years and appearance of melasma at extrafacial sites was 20 years.Conclusions:We infer that different clinical patterns of melasma occur sequentially over the natural course of disease and centrofacial melasma as the initial presentation in majority of our patients, progressed to involve extrafacial sites with time.

A survey on monopolar radiofrequency treatment.

This questionnaire-based study was aimed to measure the level of appreciation, awareness of the special tips, and practice patterns of monopolar radiofrequency among Korean dermatologists practicing a specific monopolar radiofrequency device (Thermage® Inc., Hayward, CA). A total of 82 surveys were analyzed to show that the majority of participants (78.8%) were highly satisfied with the outcomes of monopolar radiofrequency treatment. All respondents were aware of the Eye Tip 0.25 cm2 , and the majority knew the difference between the Face tip (blue) and the Total tip (orange). Most (86.3%) agreed to the statement that 900 shots were appropriate for facial tightening in those between the ages of 35 and 65 years. 66.2% of participants reported to have perform monopolar radiofrequency to extra-facial sites within the past year. As for the tips, the Total tip was most popular for all body sties and the Big tip was favored for the abdomen, thighs and buttock. We hope our data allow dermatologists to better utilize monopolar radiofrequency.

Body Site Distribution and Relative Tumor Density of Different Human Cutaneous Malignancies with Emphasis on Sunlight Exposure: A Single Institution Experience

Backround: Different skin cancer types display disparate body site distribution, particularly related to sunlight exposure pattern. We evaluated topographic distribution and relative tumor density (RTD) in a set of human cutaneous malignant melanoma (MM), basal cell carcinoma (BCC), and squamous cell carcinoma (SCC) cases. Material and methods: A total of 186 MMs from 182 subjects, 1184 BCCs from 899 subjects, and 146 SCCs from 114 subjects were analyzed. Results: MMs occured most commonly on the trunk (46.8%) and upper limbs (25.3%). While the back, and the trunk in particular were sites with the most frequent MM development in males (64.3% and 45.9%), the upper limbs were the most common location in females (34.1%). BCCs and SCCs occured predominantly on the head and neck, comprising a total of 69.0% and 81.5% of the cases. The face was a region with by far the highest RTDs in BCC and SCC patients. Men had more frequently affected extra-facial sites of the head and neck compared to women in both, the BCC (46% vs 31.9%) and SCC (62.5% vs 48.3%) cases. In BCC, the second most frequent anatomic site included the back in both genders (25.1% in males, 18.2% in females), but in SCC, it represented the trunk as a whole in males (13.6%), and the lower limbs in females (14.3%). The greatest differences in RTDs between BCC and SCC were on the back (BCC:SCC ratio, 7.5:1), especially in men (BCC:SCC ratio, 9:1). Conclusion: We have observed striking heterogeneity for skin cancers risk by anatomic site with apparent gender-related disparities. Knowledge about spatial density and body site predilection of cutaneous malignancies may provide better insight into their pathogenesis and help to improve basic preventive strategies.

Primary Cutaneous CD8+ Small- to Medium-Sized Lymphoproliferative Disorder in Extrafacial Sites

Three cases with CD8+ small- to medium-sized lymphoproliferations in the skin at extrafacial sites are described. Clinically, the patients presented with papulonodular or plaque-like lesions without preceding patches. Histopathologically, nonepidermotropic nodular or diffuse infiltrates were composed of small- to medium-sized pleomorphic lymphocytes, which expressed CD8 (more than 80% of the cells) and granzyme B (60%-70% of the cells), but were negative for CD4, CD30, and CD56. There was no association with Epstein-Barr virus. A clonal T-cell population was detected in 2 patients. Staging examinations did not reveal extracutaneous involvement. The 2 patients with solitary lesions underwent complete remission after radiation therapy, whereas 1 patient developed multifocal lesions and several recurrences. These CD8+ small- to medium-sized lymphoproliferations of the skin at extrafacial sites may belong to a spectrum of phenotypically and prognostically heterogeneous cutaneous small- to medium-sized lymphoid proliferations, which are characterized by an indolent course in most patients.

Burkitt lymphoma in UGANDA, the legacy of Denis Burkitt and an update on the disease status

Burkitt lymphoma (BL) was first described in Uganda in 1958 as a sarcoma of the jaw but later confirmed to be a distinct form of Non Hodgkin lymphoma (NHL). This discovery was the defining moment of cancer research in Uganda, which eventually led to the establishment of a dedicated cancer research institute, the Uganda Cancer Institute (UCI) in 1967. The centre was dedicated to Denis Burkitt in recognition of his contribution to cancer research in East Africa. BL is still the commonest NHL in childhood in Uganda. Its incidence has significantly increased recently due to yet unknown factors. Although the human immunodeficiency virus (HIV) was considered a possible reason for the increase, there is no evidence that it has substantially impacted on the epidemiology of the disease. However, for those patients with BL who are co infected with HIV there is a clear impact of the disease on clinical presentation and outcome. HIV-infected patients commonly present with extra facial sites and tend to have poor overall survival (median survival of 11·79months). In summary, BL, as a disease entity in Uganda, has maintained the same clinical characteristics since its discovery, despite the emergence of HIV during the intervening period.

Acne severity grading: Determining essential clinical components and features using a Delphi consensus

There are multiple global scales for acne severity grading but no singular standard. Our objective was to determine the essential clinical components (content items) and features (property-related items) for an acne global grading scale for use in research and clinical practice using an iterative method, the Delphi process. Ten acne experts were invited to participate in a Web-based Delphi survey comprising 3 iterative rounds of questions. In round 1, the experts identified the following clinical components (primary acne lesions, number of lesions, extent, regional involvement, secondary lesions, and patient experiences) and features (clinimetric properties, ease of use, categorization of severity based on photographs or text, and acceptance by all stakeholders). In round 2, consensus for inclusion in the scale was established for primary lesions, number, sites, and extent; as well as clinimetric properties and ease of use. In round 3, consensus for inclusion was further established for categorization and acceptance. Patient experiences were excluded and no consensus was achieved for secondary lesions. The Delphi panel consisted solely of the United States (U.S.)-based acne experts. Using an established method for achieving consensus, experts in acne vulgaris concluded that an ideal acne global grading scale would comprise the essential clinical components of primary acne lesions, their quantity, extent, and facial and extrafacial sites of involvement; with features of clinimetric properties, categorization, efficiency, and acceptance.

Clinical characteristics and outcome of children with Burkitt lymphoma in Uganda according to HIV infection

Characteristics of children with Burkitt lymphoma (BL) and HIV infection have not been described in Uganda before. We reviewed records at Uganda Cancer Institute (UCI) for years 1994-2004, to compare clinical features and outcome of BL in children who are HIV positive and negative (HIV+, HIV-). As statistical methods we used Student's t-test, Chi-square and Kaplan-Meier's to compare both groups. Of 1,462 records of children retrieved, 228 met the eligibility criteria and were reviewed (158 HIV-, 70 HIV+). There were 139 (61%) males and 89 (39%) females. The mean age was 6.9 years (HIV+ 6.7, HIV- 7.1). One hundred seventy-one cases (75%) had facial tumor (HIV+ 71.4%, HIV- 76.6%). HIV positive children presented significantly with extrafacial disease (lymphadenopathy 67%, hepatic masses 51%, and thoracic masses 10%). Presentation with advanced stage disease occurred more frequently in HIV positive patients compared to HIV negative patients. Treatment response rates to chemotherapy were similar irrespective of HIV status. However, overall survival was poorer in HIV positive patients with a median survival of 11.79 months (P-value < 0.000, 95% CI 8.65-14.92). BL in Uganda presents frequently with facial disease irrespective of HIV status. However HIV+ BL also presents commonly with extra facial sites, mainly lymphadenopathy. There is no difference in response to treatment with chemotherapy, but HIV+ BL patients have poorer survival. There is need for further characterization of BL in Uganda to understand the role of HIV in disease process and outcome.

Mucocutaneous Neuromas

The spectrum of clinical findings associated with PTEN tumor suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and Bannayan-Riley-Ruvalcaba syndromes. Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed. We describe a 5-year-old boy with macrocephaly, prominent corneal nerves, and progressive development of multiple painful, dome-shaped, translucent pink to skin-colored papules on the vermilion portion of the upper lip, fingers, palms, and shins. Histologic evaluation demonstrated dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath, findings diagnostic of a nonencapsulated neuroma. Genetic analysis revealed a novel heterozygous germline nonsense mutation in PTEN, predicted to result in a truncated PTEN protein. To our knowledge, this represents the first report of multiple neuromas as the sole mucocutaneous manifestation of PHTS. This article highlights neuromas as a cutaneous sign of PHTS, drawing attention to manifestations of PHTS in neural tissues of the skin, eye, gastrointestinal tract, and brain. Along with multiple endocrine neoplasia type 2B, PHTS should be considered in the differential diagnosis of multiple mucocutaneous neuromas, particularly those involving extrafacial sites.

Managing Adverse Events Associated with Botulinum Toxin Type A

Botulinum toxin A (BTXA) has become a widely used drug in cosmetic dermatology, not only to treat focal hyperhidrosis but also hyperkinetic facial lines, platysma bands, décolleté bands, and other skin features. The spectrum of possible adverse effects of BTXA is broad but fortunately those that have been observed with cosmetic use of this product are generally mild and transient. The major tools for preventing adverse effects from BTXA are knowledge and skill. Use of correct injection techniques is mandatory since most unwanted effects are caused by incorrect technique. Knowledge of the target structures, e.g. the facial and extrafacial muscles, allows physicians to select the optimal dose, time and technique. The most common adverse effects are pain and hematoma. In the periocular region, lid and brow ptosis are important adverse effects. Adverse effects such as pain, hematoma, ecchymosis, and bruising may also occur in the upper and lower face and at extrafacial sites. Other possible adverse effects seen in other indications that the user of BTXA in cosmetic dermatology should be wary of include induction headaches and possible interaction with concomitant medications. Induction of neutralizing antibodies due to cosmetic BTXA treatment has not been observed. This article also outlines recommendations regarding use of BTXA. Of these, the most important for avoiding most unwanted adverse effects are the proper techniques of dilution, storage, and injection, as well as the careful exclusion of patients with any contraindications. Pain, hematoma, ecchymosis, and bruising can be prevented by cooling the skin before and after BTXA injection. Upper lid ptosis may be partly corrected using apraclonidine or phenylephrine eyedrops. If simple rules relating to the indications for and application of BTXA are followed, this is a safe and effective drug in cosmetic dermatology.