Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series.

BACKGROUND: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities. OBJECTIVES: To characterize clinically nonsyndromic XLI, with a particular focus on extracutaneous manifestations. METHODS: This was a multicentre retrospective review of clinical findings from a case series of patients with a clinical and genetic diagnosis of XLI. RESULTS: We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus. All patients had dark scales of variable size on the extensor surfaces of the extremities. Lack of flexural involvement and pruritus were common but inconsistent findings, whereas palmoplantar hyperlinearity was absent in all but one patient. A history of orchiopexy was present in 10% and thus was more common than expected vs. the general population (3%). Neurological disorders including epilepsy (13%) and attention deficit hyperactivity disorder (ADHD; 30%) were over-represented in patients with XLI. CONCLUSIONS: This was a retrospective study with a limited number of patients. In the absence of confirmatory genetic testing and family history of the disease, dark-brown scale of the extensor surfaces and the absence of palmoplantar hyperlinearity appear to be the most reliable clinical findings supporting a diagnosis of XLI. Dermatologists should be aware of the high prevalence of ADHD and epilepsy in patients with nonsyndromic XLI.

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the downstream pathway. OBJECTIVES: We aimed to characterize 22 unrelated Spanish patients with NBCCS, the largest cohort with Gorlin syndrome reported to date in Spain. METHODS: Genomic analysis of PTCH1 was performed in patients with NBCCS and controls, and mutations were analysed using bioinformatics tools. RESULTS: We report for the first time two young patients, one each with uterus didelphys and ganglioneuroma, within the context of NBCCS. One patient showing a severe phenotype of the disease had developed basal cell carcinomas since childhood. Sanger sequencing of PTCH1 in this cohort identified 17 novel truncating mutations (11 frameshift, five nonsense and one mutation affecting an exon-intron splice site) and two novel missense mutations that were predicted to be pathogenic. The patients showed great clinical variability and inconsistent genotype-phenotype correlation, as seen in relatives carrying similar mutations. CONCLUSIONS: This study contributes to increase the pool of clinical manifestations of NBCCS, as well as increasing the number of pathogenic mutations identified in PTCH1 predisposing to the condition. The inconsistencies found between phenotype and genotype suggest the involvement of other modifying factors, genetic, epigenetic or environmental.

Treatment of nail psoriasis with Pulse Dye Laser plus calcipotriol betametasona gel vs. Nd:YAG plus calcipotriol betamethasone gel: An intrapatient left-to-right controlled study.

BACKGROUND: Treatment of nail psoriasis remains a challenging and often disappointing situation. OBJECTIVE: To compare the efficacy, adverse reactions and tolerability of treatment of nail psoriasis with PDL vs. Nd:YAG, in association with betametasona calcipotriol gel. METHODS: An open, prospective intrapatient left-to-right study was designed. The right hand of each patient received treatment with PDL and the left hand with Nd:YAG. Betamethasone calcipotriol gel was applied once a day during the first week after each laser session. A total of four sessions were administered. RESULTS: The clinical efficacy was evaluated according to the NAPSI score. All patients showed improvement in nail bed and nail matrix psoriasis. The global NAPSI mean declined in 15.46 (p<0.000). There was neither statistical difference between the reduction in nail bed and matrix NAPSI nor in the treatment with PDL vs. Nd:YAG. The administration of Nd:YAG was more painful. No serious adverse effects were documented. LIMITATIONS: No random assignment and the small number of patients. CONCLUSIONS: PDL and Nd:YAG have proven to be an effective treatment for nail psoriasis with no serious adverse effect. No statistically significant difference was found between the two treatments.

Chronic cutaneous lichenoid graft-versus-host disease at the area of herpes zoster infection and at a vaccination site.

Cutaneous graft-versus-host disease (GVHD) is a frequent complication of allogeneic bone marrow transplant and haematopoietic cell transplantation, but it is rarely presented as a Wolf's isotopic response. We report a patient who developed chronic lichenoid GVHD following the dermatomes previously affected by varicella zoster virus (VZV) infection. Nineteen months later, the same patient suffered from reactivation of GVHD at the injection site of an influenza vaccination. We review the literature concerning GVHD appearing after VZV infection and discuss the possible implications of this case and the pathogenic hypotheses.

Eczema herpeticum with herpetic folliculitis after bone marrow transplant under prophylactic acyclovir: are patients with underlying dermatologic disorders at higher risk?

We present an unreported coexistence: eczema herpeticum (EH) with histopathological findings of herpetic folliculitis (HF) after allogeneic bone marrow transplantation (BMT). A patient with atopic dermatitis (AD) underwent allogeneic BMT for idiopathic acquired aplastic anemia. She had been receiving cyclosporine (150 mg/12 h) and acyclovir (400 mg/12 h) for 6 months. A facial rash was observed, composed of monotonous erythematous, umbilicated papulo-vesicles and papulo-crusts <4 mm in size. The histopathological study showed herpetic cytopathic changes within the epidermis that extended into the hair follicle epithelium. Interestingly, microscopic HF has not previously been associated with post-transplant patients or EH. However, it is reasonable to hypothesize that the coexistence of these herpes simplex virus-related events may be underreported in the literature. Although further studies are necessary, we suggest that the prophylactic antiviral dose after BMT be enhanced in patients with underlying dermatologic diseases, especially in those with AD.

Diagnosis and Treatment of Basal Cell Carcinoma in Specialized Dermatology Units: A Clinical Practice Guideline. / Carcinoma basocelular cutáneo: diagnóstico y tratamiento en atención especializada dermatológica. Guía de Práctica Clínica de la AEDV.

BACKGROUND AND OBJECTIVE: Basal cell carcinoma (BCC) is the most common skin cancer in the general population. BCC is managed in a variety of ways, and available international guidelines are difficult to put into practice in Spain. This guideline aims to improve the management of BCC based on current evidence and provide a point of reference for Spanish dermatologists. MATERIAL AND METHODS: Members of the Spanish Oncologic Dermatology and Surgery Group (GEDOC) with experience treating BCC were invited to participate in drafting this guideline. The drafters used the ADAPTE collaboration process to develop the new guideline based on existing ones, first summarizing the care pathway and posing relevant clinical questions. They then searched for guidelines, assessed them with the AGREEII (Appraisal of Guidelines for Research and Evaluation) tool, and searched the selected guidelines for answers to the clinical questions. Finally, the recommendations were drafted and submitted for external review. RESULTS: The highest-scoring guidelines were from the Association of Dermatologists, the National Comprehensive Cancer Network, the European Dermatology Forum, and the European Academy of Dermatology and Venereology. A total of 11 clinical questions were answered. CONCLUSIONS: This new guideline answers the working group's clinical questions about the routine management of BCC in Spain. It provides dermatologists with a tool they can use for decision-making while taking into consideration the resources available and patient preferences.

Gorlin Syndrome. / Síndrome de Gorlin.

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance.

Carcinoma basocelular cutáneo: diagnóstico y tratamiento en atención especializada dermatológica. Guía de Práctica Clínica de la AEDV / Diagnosis and Treatment of Basal Cell Carcinoma in Specialized Dermatology Units: A Clinical Practice Guideline

ANTECEDENTES Y OBJETIVO: El carcinoma basocelular supone el cáncer de piel más frecuente en la población. Hay una gran variabilidad en su manejo y las diferentes guías extranjeras que existen son difícilmente aplicables en nuestro medio. El objetivo de la presente guía es servir de referencia a los dermatólogos españoles para mejorar el manejo de este tumor basándose en la evidencia actual. MATERIALES Y MÉTODOS: Se escogió a miembros del Grupo Español de Dermato-Oncología y Cirugía (GEDOC) con experiencia en el tratamiento de estos tumores y con interés en participar en la elaboración de la guía. Se hizo una adaptación de las guías de práctica clínica existentes mediante el método ADAPTE, se resumió el proceso de atención, y se elaboraron las preguntas clínicas relevantes. Se seleccionaron las guías mejor puntuadas mediante el instrumento AGREE II, realizando la búsqueda de las respuestas en dichas guías y elaborando posteriormente las recomendaciones. Finalmente se sometió la guía a revisión externa. RESULTADOS: Las guías con mejor puntuación fueron las de la British Association of Dermatologits (BAD), del National Comprehensive Cancer Network (NCCN), del European Dermatology Forum (EDF) y de la European Academy of Dermatology and Venereology (EADV). Se obtuvieron en total 11 preguntas clínicas, contestadas a partir de estas guías. CONCLUSIONES: Esta guía responde a preguntas habituales sobre el manejo del carcinoma basocelular en la práctica clínica diaria y sirve a los dermatólogos como referencia en la toma de decisiones, siempre teniendo en cuenta los recursos y las preferencias del paciente

BACKGROUND AND OBJECTIVE: Basal cell carcinoma (BCC) is the most common skin cancer in the general population. BCC is managed in a variety of ways, and available international guidelines are difficult to put into practice in Spain. This guideline aims to improve the management of BCC based on current evidence and provide a point of reference for Spanish dermatologists. MATERIAL AND METHODS: Members of the Spanish Oncologic Dermatology and Surgery Group (GEDOC) with experience treating BCC were invited to participate in drafting this guideline. The drafters used the ADAPTE collaboration process to develop the new guideline based on existing ones, first summarizing the care pathway and posing relevant clinical questions. They then searched for guidelines, assessed them with the AGREEII (Appraisal of Guidelines for Research and Evaluation) tool, and searched the selected guidelines for answers to the clinical questions. Finally, the recommendations were drafted and submitted for external review. RESULTS: The highest-scoring guidelines were from the Association of Dermatologists, the National Comprehensive Cancer Network, the European Dermatology Forum, and the European Academy of Dermatology and Venereology. A total of 11 clinical questions were answered. CONCLUSIONS: This new guideline answers the working group's clinical questions about the routine management of BCC in Spain. It provides dermatologists with a tool they can use for decision-making while taking into consideration the resources available and patient preferences

Pustulosis eosinofílica infantil / Childhood eosinophilic pustulosis

No disponible

Cutis verticis gyrata primario no esencial pruriginoso / Pruritic Primary Nonessential Cutis Verticis Gyrata

No disponible

Lupus eritematoso neonatal cutáneo. Importancia de la sospecha diagnóstica / Cutaneous neonatal lupus erythematosus. Importance of clinical suspicion

No disponible

Síndrome de Gorlin / Gorlin Syndrome

El síndrome de Gorlin es una enfermedad infrecuente de herencia autosómica dominante producida por mutaciones en genes de la vía de señalización Sonic Hedgehog, entre los que destaca PTCH1. Se caracteriza por el desarrollo de múltiples carcinomas basocelulares en edades tempranas, que pueden ir asociados a otras manifestaciones cutáneas como pits palmoplantares, o a manifestaciones extracutáneas, entre las que destacan los queratoquistes odontogénicos y el meduloblastoma. El papel del dermatólogo es importante en la sospecha de este síndrome, pero suele ser necesario un equipo multidisciplinar en el diagnóstico, seguimiento y en el tratamiento de estos pacientes. El tratamiento dermatológico puede ser complicado debido al alto número de carcinomas basocelulares y a su extensión. En los últimos años se han desarrollado nuevos fármacos que inhiben la vía Sonic Hedgehog y parecen prometedores para estos pacientes, aunque su eficacia está limitada por los efectos secundarios y la creación de resistencias

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance

Treatment of nail psoriasis with Pulse Dye Laser plus calcipotriol betametasona gel vs. Nd:YAG plus calcipotriol betamethasone gel: an intrapatient left-to-right controlled study / Tratamiento de psoriasis ungueal con Pulse dye laser frente a Nd: YAG, en asociación con gel de betametasona: un estudio con control intrapaciente izquierda-derecha

BACKGROUND: Treatment of nail psoriasis remains a challenging and often disappointing situation. OBJECTIVE: To compare the efficacy, adverse reactions and tolerability of treatment of nail psoriasis with PDL vs. Nd:YAG, in association with betametasona calcipotriol gel. METHODS: An open, prospective intrapatient left-to-right study was designed. The right hand of each patient received treatment with PDL and the left hand with Nd:YAG. Betamethasone calcipotriol gel was applied once a day during the first week after each laser session. A total of four sessions were administered. RESULTS: The clinical efficacy was evaluated according to the NAPSI score. All patients showed improvement in nail bed and nail matrix psoriasis. The global NAPSI mean declined in 15.46 (p < 0.000). There was neither statistical difference between the reduction in nail bed and matrix NAPSI nor in the treatment with PDL vs. Nd:YAG. The administration of Nd:YAG was more painful. No serious adverse effects were documented. Limitations. No random assignment and the small number of patients. CONCLUSIONS: PDL and Nd:YAG have proven to be an effective treatment for nail psoriasis with no serious adverse effect. No statistically significant difference was found between the two treatments

ANTECEDENTES: El tratamiento de la psoriasis ungueal es una situación de difícil manejo y a menudo decepcionante para el dermatólogo. OBJETIVO: Comparar la eficacia, las reacciones adversas y la tolerabilidad del tratamiento de la psoriasis ungueal con PDL vs. Nd: YAG en asociación con gel de betametasona calcipotriol. MÉTODOS: Estudio prospectivo abierto con control intrapaciente izquierda-derecha. La mano derecha de cada paciente recibió tratamiento con PDL y la mano izquierda con Nd: YAG. Se aplicó gel de betametasona calcipotriol una vez al día durante la primera semana después de cada sesión de láser en las 2 manos. Se administraron un total de 4 sesiones. RESULTADOS: La eficacia clínica se evaluó de acuerdo con la escala NAPSI. Todos los pacientes mostraron una mejoría en las lesiones del lecho y de la matriz ungueal. La media global del NAPSI disminuyó en 15,46 (p < 0,000). No hubo diferencia significativa entre la mejoría de las lesiones del lecho y la matriz ni en el tratamiento con el PDL vs. Nd: YAG. La administración de Nd: YAG fue más dolorosa. No se documentaron efectos adversos graves. Limitaciones. Falta de asignación aleatoria y muestra pequeña. CONCLUSIONES: PDL y Nd: YAG han demostrado ser tratamientos eficaces para la psoriasis ungueal sin documentarse efectos adversos graves. No se encontró diferencia estadística significativa entre los 2 tratamientos

Penfigoide dishidrosiforme / Dyshidrosiform pemphigoid

El penfigoide dishidrosiforme es una variante de penfigoide ampolloso localizado. Se caracteriza por la presencia de vesículas sero-hemorrágicas en palmas y/o plantas que recuerdan el eccema dishidrótico. La mayoría de pacientes responden a corticoterapia oral a dosis bajas. Presentamos el caso de un varón de 54 años que consultó por lesiones vesiculosas en palmas y plantas que habían sido tratadas con corticoide tópicos in respuesta. Iniciamos corticoterapia a dosis baja, con remisión completa del cuadro a las 2 semanas (AU)

Dyshidrosiform pemphigoid is a localized variant of bullous pemphigoid. It appears as a vesicular eruption with serohemorrhagic content on the palms and/or the soles, similarly to the dyshidrotic eczema. Most of the patients show a good response with low-dose oral corticotherapy. We present the case of a 54-year-old male who was admitted with vesicular lesions on palms and soles, which had not improved with topical corticotherapy. He was treated with low-dose corticotherapy with complete remission after two weeks (AU)