Familial seborrhoeic keratosis associated with multiple 'pure reticulated acanthomas' and infundibulocystic basal cell carcinomas.

BACKGROUND: A variety of genodermatoses with multiple cutaneous tumours and germline genetic alterations, such as PTCH1 mutations, have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVES: To describe the clinical, dermoscopic and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas (ICBCCs) and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in FGFR3 and PTCH1. METHODS: Ten members of one family were clinically examined and 92 skin biopsy specimens were evaluated. Blood samples from six individuals were analysed for FGFR3 and PTCH1 germline alterations. We reviewed the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis. RESULTS: Individuals of all generations affected by familial seborrhoeic keratosis also presented other skin tumours that corresponded histologically to reticulated acanthomas without apocrine or sebaceous differentiation, as well as ICBCCs. In addition, two novel germline variants, p.Pro449Ser (c.1345C>T) in FGFR3 and p.Pro725Ser (c.2173C>T) in exon 14 of PTCH1 were identified in five participants. CONCLUSIONS: We characterize for the first time the clinical, dermoscopic and histopathological features of multiple reticulated acanthomas without apocrine or sebaceous differentiation, for which we propose the term 'pure reticulated acanthoma', and ICBCCs associated with familial seborrhoeic keratosis. We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown.

Novel Immunologic Approaches to Melanoma Treatment. / Novedades en inmunología del melanoma.

Approaches to treating melanoma have changed radically since the introduction of immunotherapy, and survival figures are now higher than possible with earlier therapies. The immunomodulators currently available mainly block CTLA-4 (cytotoxicT lymphocyte-associated molecule-4) and PD-1 (programed cell death protein 1) translocated to the cell surface, where they inhibit the antitumor immune response. Treatments blocking these molecules are being more widely used. Research now seeks new molecular targets, the best combinations of available drugs, and biomarkers that can identify ideal candidates for each one.

Assessment of regression in successive primary melanomas.

INTRODUCTION AND OBJECTIVES: It has been suggested that patients who have had a melanoma may develop increased immunity against certain antigens expressed by tumor-associated melanocytes. Thus our objective was to review the records of patients with successive primary melanomas to ascertain whether the pattern of regression might indicate the presence of an immunization effect arising from the first melanoma. MATERIAL AND METHODS: A review of all the cases recorded in the melanoma database of our dermatology department between 2000 and 2012 identified 19 patients who had multiple asynchronous melanomas (2.56% of all the cases recorded). We studied the presence or absence of regression in these melanomas and other clinical and histological characteristics. RESULTS: The presence of regression was significantly higher in successive melanomas than in the first tumors identified (42.10% vs 21.05%, P=.018). Regression of at least 1 melanoma was observed in 42.10% of the patients studied and regression of 2 melanomas was observed in 21.05%. In no case was regression observed in the first melanoma and not in the second; however, in 21.05% of the patients there was evidence of regression in the second tumor and none in the first. CONCLUSIONS: Our findings suggest the possibility that the first melanoma produces an immunization effect in some patients who develop multiple asynchronous melanomas.

[Birt-Hogg-Dubé syndrome: an update]. / Actualización en el síndrome Birt-Hogg-Dubé

Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The most common histological types found in renal tumors from patients with the syndrome are oncocytoma-chromophobe carcinoma hybrids and pure forms of chromophobe carcinoma, oncocytic carcinoma, and clear cell or papillary cell carcinoma. The syndrome is linked to mutations in the FLCN gene, which encodes folliculin and is preferentially expressed in the skin, kidney, and lung. The syndrome can exhibit a high degree of clinical variability, and the skin lesions that are a warning sign for dermatologists may be absent in up to 70% of cases. Consequently, although skin lesions and mutations in FLCN are the main diagnostic criteria for Birt-Hogg-Dubé syndrome, a diagnosis can be made based on noncutaneous manifestations, with or without known family history of the syndrome, even in the absence of histological confirmation of fibrofolliculomas or trichodiscomas.

[Vascular patterns in dermoscopy]. / Vascularización en dermatoscopia.

Under the right conditions, dermoscopy allows us to observe the vascular features of many different types of skin lesions. The visualization and identification of vessels with a characteristic morphology can be the key to diagnosis, especially in hypopigmented lesions in which the typical pigmented structures are not visible. Some of the more characteristic associations are the presence of crown vessels in sebaceous hyperplasia, arborizing telangiectasias in basal cell carcinoma, comma-shaped vessels in intradermal and compound nevi, dotted vessels in Spitz nevi and melanoma, and hairpin vessels in seborrheic keratoses. The recognition of distinctive vascular features can be of great help in the diagnosis of many types of skin lesions, and very often such patterns are the only key to the diagnosis of melanoma.

[Complete regression of melanocytic nevi: correlation between clinical, dermoscopic, and histopathologic findings in 13 patients]. / Regresión completa de nevos melanocíticos: correlación clínica, dermatoscópica e histológica de una serie de 13 casos.

BACKGROUND: The complete regression of melanocytic tumors, confirmed by histology, has rarely been reported in the literature. It is very difficult to determine the malignant or benign nature of a regressed tumor, and on occasions, the only indication of malignancy is the subsequent development of metastasis. MATERIAL AND METHODS: We performed a descriptive study of melanocytic nevi that had undergone complete, histologically confirmed regression prior to excision in the dermatology department of our hospital over a period of 3 years. We included only lesions in which dermoscopy performed prior to regression showed features that suggested benignity. We assessed various clinical, dermoscopic, histologic, and immunohistochemical features. RESULTS: The mean time to complete regression was 6.4 months. The main dermoscopic patterns observed were reticular and mixed reticular/globular. Unlike what is generally seen in melanomas, the main histologic finding was the presence of fine or lamellar fibrosis. In all cases, there was a predominance of CD8+ T cells. CONCLUSIONS: The clinical, dermoscopic, and histologic features of the melanocytic nevi studied suggest the existence of a highly characteristic form of tumor regression characterized by very rapid regression and the involvement of a cytotoxic mechanism.

[Use of immersive virtual reality for cognitive rehabilitation of patients with brain injury]. / Uso de la realidad virtual inmersiva en la rehabilitación cognitiva de pacientes con daño cerebral. Revisión sistemática.

INTRODUCTION: Virtual reality (VR) is a therapeutic tool that is widely used in the cognitive rehabilitation of brain-damaged patients. Depending on the degree of immersiveness, a distinction can be made between non-immersive, semi-immersive and immersive VR. Studies assessing the utility of VR have focused on the non-immersive and semi-immersive modes. Little evidence is available on the effectiveness of immersive VR. AIM: To describe the characteristics, methodological quality and main results of studies that have applied immersive VR programmes in the cognitive rehabilitation of brain-damaged patients. MATERIALS AND METHODS: Following the PRISMA guidelines, a bibliographic search was conducted for studies published in the PubMed and PsycINFO databases. The methodological quality of the articles that met the selection criteria was assessed using the PEDro scale. RESULTS: After applying the inclusion and exclusion criteria, of the 369 articles of potential interest, five met the eligibility criteria. One of them was a randomised clinical trial (with acceptable/good methodological quality). Three were studies with pre- and post-treatment measures and one was a single case study, all four of them displaying poor methodological quality. CONCLUSIONS: According to the results obtained, there is no evidence of the effectiveness or utility of immersive VR in cognitive rehabilitation in brain-damaged patients. This finding is explained by the lack of studies with a methodological design that allows for the generation of quality evidence rather than because the results obtained in the articles analysed are negative or inconclusive.

TITLE: Uso de la realidad virtual inmersiva en la rehabilitación cognitiva de pacientes con daño cerebral. Revisión sistemática.Introducción. La realidad virtual (RV) es una herramienta terapéutica ampliamente utilizada en la rehabilitación cognitiva de pacientes con daño cerebral. En función de su grado de inmersividad, se puede diferenciar entre RV no inmersiva, semiinmersiva e inmersiva. Los estudios que valoran la utilidad de la RV se han centrado en las modalidades no inmersiva y semiinmersiva. Apenas se dispone de evidencias sobre la eficacia de la RV inmersiva. Objetivo. Describir las características, la calidad metodológica y los principales resultados de los estudios que han aplicado programas de RV inmersiva en la rehabilitación cognitiva de pacientes con daño cerebral. Materiales y métodos. Siguiendo las directrices PRISMA, se realizó una búsqueda bibliográfica de los trabajos publicados en las bases de datos PubMed y PsycINFO. La calidad metodológica de los artículos que cumplían los criterios de selección se evaluó mediante la escala PEDro. Resultados. Tras aplicar los criterios de inclusión y exclusión, de los 369 artículos potencialmente interesantes, cinco cumplieron los criterios de elegibilidad. Uno de ellos era un ensayo clínico aleatorizado (con una calidad metodológica aceptable/buena). Tres correspondían a estudios con medidas pre- y postratamiento y uno a un estudio de caso único, los cuatro con una calidad metodológica pobre. Conclusiones. De acuerdo con los resultados obtenidos, no hay evidencias de la eficacia ni de la utilidad de la RV inmersiva en la rehabilitación cognitiva en pacientes con daño cerebral. Este hallazgo se explica por la falta de estudios con un diseño metodológico que permita generar evidencias de calidad y no porque los resultados obtenidos en los artículos analizados sean negativos o no concluyentes.

[Predictors of the duration of post-traumatic amnesia following traumatic brain injury]. / Variables predictoras de la duración de la amnesia postraumática tras un traumatismo craneoencefálico.

INTRODUCTION: The duration of post-traumatic amnesia (PTA) helps estimate the level of recovery following traumatic brain injury (TBI). Yet, little information is available about which sociodemographic and clinical variables influence its duration. This study aims to identify them and create a predictive model that makes it possible to estimate the time it takes for a patient to emerge from PTA. PATIENTS AND METHODS: The sample consisted of 40 adult patients with PTA admitted to a neurorehabilitation centre. A total of 89.7% had suffered a severe TBI, whereas the remaining 10.3% had had a moderate TBI. Cognitive status was assessed using the Galveston Orientation and Amnesia Test (GOAT) - a scale for determining at what point a patient can be considered to be emerging from PTA. RESULTS: A regression equation was found (F = 8.511; p < 0.001; R2 = 0.415), in which the following variables (ranked in order of importance) explained 41.5% of the variability observed in the duration of PTA: a) GOAT administered on arrival at the neurorehabilitation centre; b) years of formal education of the patient; and c) days with PTA prior to admission to the neurorehabilitation centre. The equation derived was as follows: 104.284 + (-0.708 x GOAT-initial) + (-4.124 x years formal education) + (0.219 x hospital acute-APT). CONCLUSIONS: The time it takes for a patient to emerge from PTA is conditioned by the score obtained in the first GOAT administered on admission to the neurorehabilitation centre, their level of education, and the number of days elapsed with PTA between occurrence of the TBI and admission to the neurorehabilitation centre.

TITLE: Variables predictoras de la duración de la amnesia postraumática tras un traumatismo craneoencefálico.Introducción. La duración de la amnesia postraumática (APT) ayuda a estimar el nivel de recuperación tras un traumatismo craneoencefálico (TCE). Sin embargo, apenas se dispone de información sobre qué variables sociodemográficas y clínicas influyen en su duración. Este estudio pretende identificarlas y crear un modelo predictivo que permita estimar el tiempo que un paciente tarda en emerger de la APT. Pacientes y métodos. La muestra estaba formada por 40 pacientes adultos en APT ingresados en un centro neurorrehabilitador. El 89,7% había sufrido un TCE grave; el 10,3% restante, un TCE moderado. Su estado cognitivo se valoró mediante el Galveston Orientation and Amnesia Test (GOAT) ­escala que permite determinar en qué momento se puede considerar que un paciente emerge de la APT­. Resultados. Se encontró una ecuación de regresión (F = 8,511; p menor de 0,001; R2 = 0,415), en la que las siguientes variables (clasificadas por su orden de importancia) explicaron el 41,5% de la variabilidad observada en la duración de la APT: a) GOAT administrado a la llegada al centro neurorrehabilitador; b) años de formación reglada del paciente; y c) días que estuvo en APT antes de ingresar en el centro neurorrehabilitador. La ecuación de regresión derivada fue la siguiente: 104,284 + (­0,708 × GOAT-inicial) + (­4,124 × años formación reglada) + (0,219 × APT-hospital agudos). Conclusiones. El tiempo que un paciente tarda en emerger de la APT está condicionado por la puntuación que obtiene en el primer GOAT administrado al ingresar en el centro neurorrehabilitador, el nivel de estudios, y los días que permanece en APT entre el momento del TCE y el ingreso en el centro neurorrehabilitador.

[Descriptive dermoscopic study of depigmentation in melanocytic nevi without a visible halo]. / Estudio descriptivo dermatoscópico de los nevos melanocíticos con despigmentación sin halo clínico.

BACKGROUND AND OBJECTIVES: There are few cases described in the literature in which depigmentation of melanocytic nevi occurs without the appearance of halos. The aim of this study was to analyze the correlation between clinical and dermoscopic findings and to assess the usefulness of dermoscopy to identify possible markers of complete regression in melanocytic lesions. MATERIALS AND METHODS: A prospective, observational, descriptive study of 77 melanocytic lesions in 52 patients was undertaken over a 5-year period. Melanocytic lesions from patients who underwent periodic follow-up in the digital dermoscopy unit were analyzed if they had exhibited partial or total, permanent depigmentation without a clinically apparent halo. RESULTS: We observed substantial variation in the time taken for pigmentation to disappear and the morphological characteristics of the nevi during the depigmentation process. Female sex and dermoscopic evidence of melanophage activity or of a halo were all associated with more rapid involution of pigmented lesions. The only variable which displayed a statistically significant association with complete depigmentation of melanocytic nevi was the presence of vascular proliferation. Fibrosis was the only variable that displayed a statistically significant association with heterogeneous depigmentation of melanocytic nevi. CONCLUSIONS: In this study, we have identified patterns of depigmentation in melanocytic lesions that differ from the classic halo nevus.

[Non-pharmacological intervention in post-traumatic amnesia, a systematic review]. / Intervención no farmacológica en la amnesia postraumática, una revisión sistemática.

INTRODUCTION: Survivors of traumatic brain injury may experience a transient state of confusion and global disturbance of cognitive-behavioural functioning called post-traumatic amnesia. AIM: To describe the characteristics, methodological quality and main results of studies that have analysed the impact of non-pharmacological interventions in the treatment of symptoms associated with post-traumatic amnesia. PATIENTS AND METHODS: Following the PRISMA guidelines, a literature search was carried out on papers published in the PubMed and PsycInfo databases over the last 20 years (2000-2020). The methodological quality of the articles was assessed using the PEDro scale. RESULTS: After applying the inclusion and exclusion criteria, of the 1,036 potentially interesting articles, eight met the eligibility criteria, four of which were randomised clinical trials. The interventions applied were grouped as follows: structured retraining of activities of daily living (four studies), reality orientation programme (two studies), Perceive, Recall, Plan and Perform system (one study) and therapeutic application of music (one study). Seven of the eight articles reviewed showed positive or partially positive results. CONCLUSIONS: According to the results obtained, there is evidence that non-pharmacological interventions have positive effects on reducing the cognitive-behavioural signs and symptoms associated with post-traumatic amnesia.

TITLE: Intervención no farmacológica en la amnesia postraumática, una revisión sistemática.Introducción. Las personas que sobreviven a un traumatismo craneoencefálico pueden presentar un estado transitorio de confusión y perturbación global del funcionamiento cognitivoconductual denominado amnesia postraumática. Objetivo. Describir las características, la calidad metodológica y los principales resultados de los estudios que han analizado el impacto de las intervenciones no farmacológicas en el tratamiento de los síntomas asociados a la amnesia postraumática. Pacientes y métodos. Siguiendo las directrices PRISMA, se realizó una búsqueda bibliográfica de los trabajos publicados en las bases de datos PubMed y PsycInfo durante los últimos 20 años (2000-2020). La calidad metodológica de los artículos se evaluó mediante la escala PEDro. Resultados. Tras aplicar los criterios de inclusión y exclusión, de los 1.036 artículos potencialmente interesantes, ocho cumplieron los criterios de elegibilidad; de estos, cuatro eran ensayos clínicos aleatorizados. Las intervenciones aplicadas se agruparon de la siguiente forma: reentrenamiento estructurado de las actividades de la vida diaria (cuatro estudios), programa de orientación a la realidad (dos estudios), sistema Perceive, Recall, Plan and Perform (un estudio) y aplicación terapéutica de la música (un estudio). Siete de los ocho artículos revisados mostraron resultados positivos o parcialmente positivos. Conclusiones. De acuerdo con los resultados obtenidos, hay indicios de que las intervenciones no farmacológicas tienen efectos positivos en la disminución de la sintomatología cognitivoconductual asociada a la amnesia postraumática.

[Epidemiology of pediatric dermatologic surgery: a retrospective study of 996 children]. / Epidemiología de la cirugía dermatológica pediátrica. Un estudio retrospectivo de 996 niños.

OBJECTIVE: To describe the epidemiology of skin surgery performed in the dermatology department of Hospital Clínico Universitario in Valencia, Spain, on children up to 16 years of age. The study analyzed a 9-year period. MATERIALS AND METHOD: A retrospective review was performed of all tissue excisions and biopsies taken between January 1, 1990, and December 31, 2007, from patients up to 16 years of age seen in the dermatology department of Hospital Clínico Universitario. The following data were collected: age, sex, surgical site, and histopathologic diagnosis. RESULTS: Between 1990 and 2007, 33840 lesions were analyzed histologically; 996 of the lesions (2.94%) were from patients up to 16 years of age, of whom 502 (50.40%) were girls and 484 (49.60%) were boys. The mean age was 11.06 years. The majority (47.39%) of excisions were performed in children of 12 to 16 years. The distribution of the remainder by age groups was as follows: <1 year, 34 excisions (3.41%); >1 to <4 years, 66 (6.63%); >4 to <8 years, 154 (15.46%); and >8 to <12 years, 270 (27.11%). The most common diagnosis was melanocytic nevus (50.20%), followed by pilomatrixoma (4.62%), capillary angioma (3.61%), epidermal cyst (3.61%), Spitz nevus (3.31%), and pyogenic granuloma (3.11%). CONCLUSION: Dermatologic surgery in patients up to 16 years of age accounted for a small percentage of the overall dermatologic surgery in our hospital; the majority of children were in the 12 to <16 year age group. Most children had benign lesions, with melanocytic nevus being by far the most common diagnosis. The majority of lesions were on the trunk, followed by the head and neck. In conclusion, compared with the literature reviewed, ours is the only series on dermatologic surgery in children. It is of interest because it defines the most common conditions in these patients.

[Botulinum toxin type A for the treatment of primary hyperhidrosis: a prospective study of 52 patients]. / Toxina botulínica A en el tratamiento de la hiperhidrosis primaria: estudio prospectivo de 52 pacientes.

BACKGROUND AND OBJECTIVES: Primary hyperhidrosis is characterized by excessive sweating in a defined region of the body. It should not be considered a purely cosmetic problem as it has a significant impact on the social and professional relationships of affected individuals. The aim of this study was to determine the clinical profile of patients with primary hyperhidrosis and assess the results obtained with the use of botulinum toxin type A (BTX-A) in clinical practice. MATERIAL AND METHODS: The study included 52 patients (39 women and 13 men) with a diagnosis of primary hyperhidrosis treated for the first time with BTX-A. All patients completed a questionnaire that included the following information: age; sex; profession; age at onset, family history, and site of hyperhidrosis; accompanying signs and symptoms, and previous treatment; time to effect of BTX-A; local or systemic side effects; and severity of hyperhidrosis before and after BTX-A treatment. RESULTS AND CONCLUSIONS: Primary hyperhidrosis began during puberty in 61.5% of the patients included in the study, 75% were women, and the mean age was 29.9 years. In 36.5% of patients, first-degree relatives also had primary hyperhidrosis. Hyperhidrosis was classified as palmar in 61.5% of cases, plantar in 53.8%, and axillary in 59.6%. Other sites were affected less frequently. The most common accompanying symptoms were facial erythema (32.7%), palpitations (30.7%), muscle tension (28.8%), shivering (23%), and headache (17.3%). Treatment with BTX-A was well tolerated and there was a highly significant reduction in the severity of hyperhidrosis 2 months after performing the treatment (P<0.001).