Novel uses of laser therapy in Goltz syndrome.

Goltz syndrome is an X-linked dominant, multisystem birth defect due to PORCN mutation. The skin findings follow Blaschko's lines and often show epidermal atrophy and herniation of subcutaneous fatty tissue. Regarding treatment, light sources can offer a good therapeutic option for some manifestations of this rare disease and improve the aesthetic appearance of the skin lesions. We report two new cases of Goltz syndrome in which the cutaneous findings remarkably improved with pulsed dye laser and carbon dioxide laser.

Development and validation of a questionnaire to measure empowerment in adult patients with atopic dermatitis. The DATEMP questionnaire.

BACKGROUND AND OBJECTIVES: In recent years, the hypothesis that increasing the empowerment of patients can help to improve health outcomes and rationalize the use of health services has become relevant, especially for chronic diseases. Developing validated measurement tools is necessary to achieve this goal. In the field of dermatology, there are few studies related to empowerment of the patient. The aim of the present research is to develop and validate a self-administered questionnaire for adult patients diagnosed with atopic dermatitis (AD) in order to measure their level of empowerment. METHODS: After a literature review and the establishment of consulting groups of patients and dermatologists, a large battery of 35 items was generated, based on the dimensions included in previous empowerment descriptions. A multidisciplinary group selected the 20 most suitable items to include in the questionnaire. A cross-sectional study was carried out with the items included in the questionnaire as well as demographic and clinical characteristics. To reduce the number of items and measure the construct validity, an exploratory factorial analysis (EFA) of the primary components and varimax rotation were used. Cronbach's α was used to measure the reliability of the individual scales and the global questionnaire. RESULTS: 242 valid questionnaires were included. After completion of the EFA, the final Dermatitis Atópica EMPoderamiento (DATEMP) questionnaire was composed of 17 items that converged on four factors. The four scales had adequate reliability: "Knowledge" (Cronbach's alpha = 0.808), "Abilities" (Cronbach's alpha = 0.744), "Intention to change" (Cronbach's alpha = 0.798) and "Coping skills" (Cronbach's alpha = 0.772). The overall Cronbach's α of the questionnaire was 0.764. CONCLUSIONS: The DATEMP questionnaire is the first specific empowerment measurement instrument developed for patients with AD that has demonstrated adequate levels of reliability and construct validity. It is a self-administered questionnaire that is simple and quick to answer.

Effect of Flywheel Resistance Training on Balance Performance in Older Adults. A Randomized Controlled Trial.

This study aimed to assess the effects of flywheel resistance exercise training on postural stability and mobility in older adults and to investigate whether changes in power are related to improvements in balance. Thirty-six participants were randomly allocated to either a flywheel resistance exercise training group (ETG; n = 18) who underwent 6-weeks of training (2 to 3 days per week) or a control group (CON; n = 18). The average power and Mean Propulsive Velocity (MPV) were computed. Timed up-and-go test (TUG) and postural balance (anterior-posterior (AP) and medial-lateral (ML) center of pressure (COP) excursions) in different tasks were also assessed. Within-group analyses showed a significantly better performance in mobility (TUG, p < 0.01) and COPAP with open eyes (p < 0.05) for ETG. Between-groups analyses showed significant improvements in TUG (-0.68 [-1.25 to -0.98]) and in COPAP (-2.90 [-4.82 to -0.99]) in ETG compared with CON. Mean power also increased in ETG and the changes were related to those observed in stability (COP; r = -0.378, p < 0.05). In conclusion flywheel resistance exercise training improved balance and mobility in older adults as well as muscle power.

Symmetries in fluctuations far from equilibrium.

Fluctuations arise universally in nature as a reflection of the discrete microscopic world at the macroscopic level. Despite their apparent noisy origin, fluctuations encode fundamental aspects of the physics of the system at hand, crucial to understand irreversibility and nonequilibrium behavior. To sustain a given fluctuation, a system traverses a precise optimal path in phase space. Here we show that by demanding invariance of optimal paths under symmetry transformations, new and general fluctuation relations valid arbitrarily far from equilibrium are unveiled. This opens an unexplored route toward a deeper understanding of nonequilibrium physics by bringing symmetry principles to the realm of fluctuations. We illustrate this concept studying symmetries of the current distribution out of equilibrium. In particular we derive an isometric fluctuation relation that links in a strikingly simple manner the probabilities of any pair of isometric current fluctuations. This relation, which results from the time-reversibility of the dynamics, includes as a particular instance the Gallavotti-Cohen fluctuation theorem in this context but adds a completely new perspective on the high level of symmetry imposed by time-reversibility on the statistics of nonequilibrium fluctuations. The new symmetry implies remarkable hierarchies of equations for the current cumulants and the nonlinear response coefficients, going far beyond Onsager's reciprocity relations and Green-Kubo formulas. We confirm the validity of the new symmetry relation in extensive numerical simulations, and suggest that the idea of symmetry in fluctuations as invariance of optimal paths has far-reaching consequences in diverse fields.

An immunohistochemical study of verrucous hemangiomas.

BACKGROUND: According to the International Society for the study of vascular Anomalies, vascular anomalies are classified as vascular neoplasms and vascular malformations. In some vascular lesions, categorization as a neoplasm or malformation has not been established with confidence so far. In order to further clarify the nosology of verrucous hemangioma, we studied 13 cases. OBJECTIVE: To analyze immunohistochemical characteristics of verrucous hemangiomas in order to gain further insight in its histogenesis. METHODS: We carried out a retrospective review. Immunohistochemical expression for Wilms tumor 1 (WT1), Glut-1 and D2-40 was performed in 13 cases. RESULTS: Immunohistochemistry performed with Glut-1 and WT1 showed positive staining in all lesions. All verrucous hemangiomas lacked D2-40 immunostaining. CONCLUSIONS: This is the first report in the literature investigating WT1 in verrucous hemangioma in order to further clarify the nosology of this vascular anomaly. Despite the clinical features of verrucous hemangioma, which are similar to those seen in vascular malformations, verrucous hemangioma exhibited an immunoprofile similar to vascular neoplasms, according to WT1 and Glut-1 positivity.

Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?

The association of familial totalis leukonychia with multiple pilar cysts is a rare condition that could represent a separate syndromic entity. Since Bauer described a family with totalis leukonychia and sebaceous cysts in 1920, only four new affected families have been reported. We report a five-generation family with a total leukonychia and multiple pilar cysts on the scalp. The hypothesis of a deficiency of a gene regulating the structure of keratin has been postulated but the exact genetic mechanism has not been yet determined. In our family, no other keratinizing structures were involved.

Capillary-lymphatic malformation, kaposiform hemangioendothelioma and delayed Kasabach-Merritt phenomenon.

According to International Society for the Study of Vascular Anomalies classification, vascular anomalies are mainly divided into two groups: vascular tumors and vascular malformations. Nevertheless, a small group of patients present clinical and/or histopathologic overlapping features. We report a case of a 4-month-old boy that presented a vascular lesion on his right buttock with involvement of abdominal wall muscles, abdominal cavity and drainage to primitive iliac by a tortuous drainage vein. Surgery was performed and histopathology demonstrated a combined vascular malformation. Six months later he developed a thrombocytopenia and repeat magnetic resonance imaging revealed a new solid mass involving the majority of the abdominal cavity. At 18 months of age the patient developed a Kasabach-Merrit phenomenon and treatment with vincristine, interferon and then acetyl-salicilic acid and dypiridamol was started. No response in platelet counts was obtained and one more surgery was perfomed. On this occasion a histopathologic study revealed vascular malformation areas intermingled with areas of kaposiform hemangioendothelioma. This patient demonstrates the Kasabach-Merritt phenomenon with kaposiform hemangioendothelioma arising within a pre-existing combined vascular malformation.

Arteriovenous haemangioma in liver disease. Treatment with carbon dioxide laser vaporization in five cases.

BACKGROUND: Arteriovenous haemangioma (AVH) is considered a rare, benign, acquired, cutaneous tumour of vascular origin. Recently, a variant associated with chronic hepatic disease has been described. The usual treatment is surgical resection but no other treatments have been reported. OBJECTIVE: To evaluate the results obtained in the treatment of AVH with carbon dioxide laser vaporization. METHODS: Every patient with AVH related to chronic hepatic disease treated in the laser unit was reviewed. Five patients were treated with carbon dioxide laser vaporization. The first pass of treatment was performed in defocused mode at 2 W/cm(2). After this, several passes were performed in order to clear the entire lesion. One session of treatment was necessary for three patients, and the other two patients needed two sessions. RESULTS: The tumoral mass as well as the pulse disappeared in all lesions; total clearance was obtained in four of the five cases. In the postoperative time, no bleeding or haemorrhage were observed. No significant secondary effects of treatment were present. The cosmetic outcome was excellent in all cases. CONCLUSION: Carbon dioxide laser vaporization may be an alternative treatment for cases of AVH in chronic hepatic disease: the procedure is easy and with good cosmetic outcome.

Venous malformations with lip involvement: palliative treatment with carbon dioxide laser vaporization in five cases.

BACKGROUND: The treatment of venous malformations remains controversial. Traditional surgical excision is only possible in a few cases. Numerous sclerosing agents have been used, but none of them are ideal or absolutely safe for the treatment of venous disorders. In isolated cases, an expectative control would be a good option. OBJECTIVE: To report our experience with CO(2) laser vaporization as palliative treatment in five cases of head and neck venous malformations with lip involvement. METHODS: Five patients were treated with a CO(2) laser in superpulsed, focused mode at 2 W/cm(2), with several passes in each session. Patients were aged from 16 to 49 years old (mean: 36.6 years). Three sessions of treatment were performed in two patients while only one session was used in the rest. The follow-up was 6-36 months (mean: 22.8 months). RESULTS: Significant cosmetic improvement with flattening of the lip surface was achieved in all patients. CONCLUSION: Carbon dioxide laser vaporization can be considered as one method of choice for an effective palliative treatment of lip involvement in venous malformations.

Three cases of cutaneous phaeohyphomycosis by Exophiala jeanselmei.

Cutaneous phaeohyphomycosis is a rare opportunistic fungal disease, knowledge of which is important because of the increase in organ transplantation, aggressive treatments for malignancies, and chronic use of corticosteroids. We report 3 cases of cutaneous phaeohyphomycosis: two patients treated with oral corticosteroids and one elderly woman with multiple hospitalizations. They showed several different clinical appearances. Histopathologically, the fungal infection affected the dermis and subcutis in all cases and in one of them, also the epidermis. Exophiala jeanselmei was isolated from the purulent exudate in the three cases. Good response was obtained with surgical and antifungal treatment.

Imiquimod in mycosis fungoides.

Imiquimod is a topically active imidazoquinoline immunomodulator agent. It works as an indirect antiviral and antitumoral and stimulates the production of INF-alpha and various other cytokines. We assayed topical imiquimod in treating early stages of mycosis fungoides. We applied imiquimod 5% cream in four patients with multi-treatment resistant plaques of MF (stages IA and IIB). We applied it on one patient in association with systemic INFalpha-2a. We observed a complete clinical clearance of the lesions in all four patients. In three cases we achieved a complete histopathological clearance and in one case a partial histopathological clearance. The patient treated with imiquimod and systemic INFalpha-2a showed the most spectacular improvement with a rapid total response. We ascribe this improvement to a synergic effect of imiquimod and systemic INFalpha-2a treatment. Before the introduction of imiquimod, this patient had been treated for 2 years with systemic INFalpha-2a alone, without any evidence of clinical response. Imiquimod could be an effective therapy for early-stage disease of CTCL, used alone or in combination with systemic immunomodulatory therapy.

Bowen's disease treated by carbon dioxide laser. A series of 44 patients.

BACKGROUND: Bowen's disease is a common form of intraepidermal (in situ) squamous cell carcinoma of the skin and mucous membrane. Treatment with destruction of the epidermis by any method is necessary to prevent invasive squamous cell carcinoma. OBJECTIVE: To report our experience with CO2 laser vaporization in the treatment of Bowen's disease and try to identify which factors could have any influence on results. METHODS: A total of 44 patients were treated with the CO2 laser in superpulsed mode, focalized at 2 W/cm2. RESULTS: In 86.3% of patients, a unique treatment session was required. 'Clearance after one treatment' was achieved in 86.3% of the total series of patients and only 7.9% of these patients developed recurrence of the lesion. In 11.3% of the cases, there was 'clearance after more than one treatment' without clinical recurrences in any of these patients during the follow-up. 'No response' was achieved in 2.2% of the total series of patients. CONCLUSION: We conclude that the CO2 laser in superpulsed mode is an effective, efficient, safe, functional and good cosmetics treatment for Bowen's disease and it provides the same recurrence rate as other more aggressive or more expensive modalities of treatment.

Mucinous carcinoma of the skin: evaluation of lymphatic invasion with D2-40.

Primary cutaneous mucinous carcinoma is a rare adnexal sweat gland neoplasm that mainly affects elderly people. Differential diagnosis includes mammary and gastrointestinal metastatic mucinous carcinoma (MC) and secondary cutaneous involvement by underlying neoplasms. An 83-year-old woman presented with an 8-year history of slow-growing infiltrate plaque in her right hemithorax, with ulceration on supraclavicular area, right upper limb edema and palpable axillary lymphadenopathies. She underwent partial excision of the tumor and local radiotherapy. Imaging studies showed widespread cutaneous dissemination with enlargement of ipsilateral axillary lymph nodes but without evidence of underlying breast cancer. Histopathological examination showed large amounts of mucin in the dermis including small islands of epithelial cells. They stained positive for cytokeratin 7, carcinoembryonic antigen, epithelial membrane antigen, gross cystic disease fluid protein-15, and c-erbB-2. Lymphatic invasion was demonstrated by D2-40-immunostained sections. A diagnosis of primary cutaneous mucinous carcinoma was made. Our aim was to reevaluate the differential clinical, histopathological, and immunohistochemical criteria for distinguishing primary cutaneous mucinous carcinoma from skin metastases of visceral mucinous carcinoma, especially those arising in breast. We also propose D2-40 as a reliable marker to detect lymphatic invasion that indicates a strong aggressive trend with shorter recurrence-free and predicts nodal metastases.

Papular elastorrhexis, a distinctive entity?

Papular elastorrhexis is a rare entity of elastic tissue characterized by multiple white papules usually located on the trunk. We report a case of papular elastorrhexis in a 22-year-old man with sparse lesions and discuss the main controversial facts in this entity: its consideration as an independent disease or as an incomplete form of Buschke-Ollendorff syndrome and the confusion with and its possible inclusion as a variant of elastic tissue naevi.

[Venolymphatic malformation with bone erosion. An unusual affectation in these lesions]. / Malformación venolinfática con erosión ósea. Una afectación rara en estas lesiones.

A 30 year old male presented with a cutaneous lesion on the distal area of the 5th toe with involvement of the outer edges. Macroscopically, it was a 1cm violaceous and keratotic lesion. Radiography showed an increase in soft tissue, possibly due to a vascular lesion. MRI showed a hyper-intense signal with erosion of the distal phalanx compatible with a low-flow vascular malformation. The distal phalanx was amputated. Histopathology revealed a lesion formed by venous and D2-40 positive lymphatic vessels. This case highlights the fact that even minimal skin involvement in vascular malformations may conceal an important deeper lesion, such as erosion of the cortical bone.

Livedoid skin reaction probably due to imatinib therapy.

OBJECTIVE: To report 3 cases of skin rash with a peculiar livedoid pattern that were probably associated with imatinib therapy. CASE SUMMARY: In the first case, a 74-year-old male diagnosed with Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML), treated with imatinib 400 mg/day, developed a skin eruption with a livedoid pattern. Systemic corticosteroids were started, and skin lesions improved. The second case involved a 66-year-old male with Ph+ CML who was treated with imatinib 600 mg/day. After initiation of this treatment, he developed a skin rash with a livedoid pattern. The drug treatment was discontinued and then reintroduced. Topical corticosteroid treatment was started, resulting in total remission of the skin lesions. When the imatinib dose was progressively reintroduced, the skin lesions recurred. The patient died as a result of the progression of his disease. In the third case, a 43-year-old male with Ph+ acute lymphoblastic leukemia was treated with imatinib 600 mg/day. After a few days of treatment, the patient developed a skin rash with a livedoid pattern. He died as a result of probable septic shock. DISCUSSION: Imatinib is a tyrosine kinase receptor inhibitor that inhibits BCR/ABL tyrosine kinase. There have been several published articles on cutaneous adverse reactions related to imatinib therapy. The most common cutaneous adverse event of imatinib is a rash with variable clinical presentation. The Naranjo probability scale indicated a probable relationship between imatinib and the rash in all 3 cases reported here. CONCLUSIONS: Adverse reactions to imatinib that affect the skin occur frequently. They are strongly dose dependent, self-limiting, or easily managed by lowering the dose of imatinib and, if necessary, prescribing short-term therapy with a systemic corticosteroid. Clinicians should monitor patients taking imatinib and institute treatment quickly if a rash develops.

Epidermal nevi treated by carbon dioxide laser vaporization: a series of 25 patients.

BACKGROUND: Epidermal nevi are benign proliferations of epidermis. Numerous treatment modalities have been tried, but no ideal treatment is yet available. OBJECTIVE: To report our experience with CO(2) laser vaporization in the treatment of verrucous epidermal nevi, and to identify which factors could have influence in long-term results. METHODS: A total of 25 patients were treated with the CO(2) laser in the superpulsed mode, focalized at 2 W/cm(2). The patients were between 3 and 41 years old (mean: 17 years). A total of 44% of lesions were <20 cm(2), 40% measured between 20 and 100 cm(2) and 16% were >100 cm(2). The follow-up was 4-79 months (mean: 28 months). In 76% of patients, multiple treatment sessions were required. RESULTS: Good results were achieved in 92% of patients with soft, flattened nevi and in only 33% patients with keratotic nevi. In addition, 87% of the latter had moderate results and 12.5% had poor results. CONCLUSION: We conclude that the CO(2) laser in superpulsed mode is an effective and safe treatment for verrucous epidermal nevi and provides fewer recurrences than other laser therapies. We also believe that the most determining factor for the cosmetic result is thickness of the nevus.