Raúl de Lucas

Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain

BACKGROUNDnPrevious reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete.nnnOBJECTIVESnWe sought to describe the prevalence of ARCI.nnnMETHODSnWe obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method.nnnRESULTSnWe identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association.nnnLIMITATIONSnThe prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries.nnnCONCLUSIONSnThe prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.

Recalcitrant palmoplantar pustular psoriasis treated with etanercept.

Abstract:u2003 We report a 10‐year‐old boy presenting with palmoplantar pustular psoriasis, resistant to topical and systemic treatments, who was successfully treated with subcutaneous etanercept (0.4u2003mg/kg) twice a week for 1u2003month. Maintenance therapy was extended for 18u2003months in combination with near ultraviolet light therapy without any adverse effect. Etanercept may be a safe and effective alternative for severe palmoplantar pustular psoriasis in children.

Childhood actinic lichen planus: Successful treatment with antimalarials

Actinic lichen planus (ALP) is a photosensitive variant of lichen planus, affecting mainly young adults of Middle Eastern descent. We report a case of ALP in a 9‐year‐old Colombian girl with an excellent response to hydroxychloroquine and photoprotection.

ERYTHEMA ELEVATUM DIUTINUM AFTER LIVER TRANSPLANTATION: DISAPPEARANCE OF THE LESIONS ASSOCIATED WITH A REDUCTION IN CYCLOSPORIN DOSAGE

When Drs. Esterly and Enjolras talk about hemangiomas, they usually mean the problematic ones. When I talk about hemangiomas, I mainly mean the “harmless” superficial ones, and, in this group, mainly the singular elevated hemangiomas with a regular circumference, because they represent 80% of all hemangiomas (in my opinion). These hemangiomas are mostly harmless for us doctors, but are they really that harmless for the children and their parents? They are very annoying when located in the facial area (54%), and they tend to ulcerate when located in the anal-genital area (4%). If we have a therapy at hand which takes 10 seconds, can be done without anesthesia, and does not have any side effects, why should we not help these children and their parents? In 875 cases which were treated by contact surgery, I have only seen the development of scars in three cases, and all three cases did not belong to the group of singular elevated hemangioma with a regular circumference, but were telangiectatic patches. If treatment were necessary at all, they should have been treated by pulsed dye laser. Treating singular elevated hemangiomas with a regular circumference by contact surgery, especially when they are still small, is relatively easy. It is neither spectacular nor life saving, but it saves the parents and children a lot of grief. Of course, it has to be done properly. That means not using a spray (sprays often cause ulcerations) but using a metal stick which is cooled by liquid nitrogen until it has reached a temperature of -196°C. Contact surgery does not need to be done in a famous center, which is probably one of the reasons why the big names are not very interested. And rightly so, because this leaves more time for them to care for the rare, complicated, and serious cases. But this does not mean that therapy for the overwhelming number of “harmless” hemangiomas should be neglected.

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Epidermolysis bullosa with pyloric atresia (EB‐PA) is a rare autosomal recessive hereditary disease with a variable prognosis from lethal to very mild. EB‐PA is classified into Simplex form (EBS‐PA: OMIM #612138) and Junctional form (JEB‐PA: OMIM #226730), and it is caused by mutations in ITGA6, ITGB4 and PLEC genes. We report the analysis of six patients with EB‐PA, including two dizygotic twins. Skin immunofluorescence epitope mapping was performed followed by PCR and direct sequencing of the ITGB4 gene. Two of the patients presented with non‐lethal EB‐PA associated with missense ITGB4 gene mutations. For the other four, early postnatal demise was associated with complete lack of β4 integrin due to a variety of ITGB4 novel mutations (2 large deletions, 1 splice‐site mutation and 3 missense mutations). One of the deletions spanned 278 bp, being one of the largest reported to date for this gene. Remarkably, we also found for the first time a founder effect for one novel mutation in the ITGB4 gene. We have identified 6 novel mutations in the ITGB4 gene to be added to the mutation database. Our results reveal genotype–phenotype correlations that contribute to the molecular understanding of this heterogeneous disease, a pivotal issue for prognosis and for the development of novel evidence‐based therapeutic options for EB management.

Adherence to drug treatments and adjuvant barrier repair therapies are key factors for clinical improvement in mild to moderate acne: the ACTUO observational prospective multicenter cohort trial in 643 patients.

BackgroundIn acne, several studies report a poor adherence to treatments. We evaluate, in a real-life setting conditions, the impact of compliance to physician’s instructions, recommendations and adherence to the treatments on clinical outcome in patients with mild to moderate acne in an observational, non-interventional prospective study carried out in 72 Dermatologic Services in Spain (ACTUO Trial).MethodsSix-hundred-forty-three subjects were enrolled and 566 patients (88xa0%) completed the 3 study visits. Study aimed to evaluate the impact of adherence (assessed with ECOB scale) on clinical outcome, as well as how the use of specific adjuvant treatments (facial cleansing, emollient, moisturizing and lenitive specific topical products) influences treatment’s adherence and acne severity (0–5 points score). Recommendation of specific adjuvant skin barrier repair products was made in 85.2xa0%.ResultsOverall, clinical improvement was observed throughout follow-up visits with an increased proportion of patients who reported reductions of ≥50xa0% on the total number of lesions (2xa0months: 25.2xa0%; 3xa0months: 57.6xa0%) and reductions of severity scores (2.5, 2.0 and 1.3 at 1, 2 and 3xa0months after treatment, respectively). Adherence to treatment was associated with a significant reduction on severity grading, a lower number of lesions and a higher proportion of patients with ≥50xa0% improvement.ConclusionsGood adherence to medication plus adherence to adjuvants was significantly associated with a higher clinical improvement unlike those that despite adherence with medication had a low adherence to adjuvants. A good adherence to adjuvant treatment was associated with improved adherence and better treatment outcomes in mild to moderate acne patients. (ISRCTN Registry: ISRCTN14257026).

Ahdominal Lichen Aureus in a Child

To the Editors: Lichen aureus (LA) is a rare, chronic, benign dermatosis of unknown origin which is included within the pigmented purpuric eruptions group (1). Typical clinical presentation consists of one or more golden yellow to purple patches over the lower extremities of young adults. Infrequently this entity has been also repwrted in children. We report an 8-year-old girl who was referred to our department beeause of an asymptomatic, abdominal •purple rash present for about 6 months. The patient was otherwise healthy, and her past medical history and family hi.story were unremarkable. Previous local ttautna and recent drug ingestion were lacking. Physical examination showed a solitary, 3-ctn in diameter rounded lesion located over the right upf)er quadrant of the abdominal wall. Closer examination revealed a slightly raised patch consisting of grouped small lichenoid papules with a brownish to purple hue (Fig. 1). Other mucocutaneous lesions were ab.sent, and the results of routine hematologic and biochemical tests were normal. Histopathologic examination of the lesion showed a bandlike lymphohistiocytic inftltrate with extravasation of erythrocytes and hemosiderin deposition in the upper dermis (Eig. 2); the overlying epidermis was normal. A diagnosis of LA was e.stablished, and subsequent therapy with topical corticosteroids proved unsuccessful, .̂ fter 1 year of follow-up, the lesion retnains unchanged. Most cases of LA occur in young adults. In the literature review by Gelmetli et al. (2), children repre.sent 17% of total cases. Childhood LA occurs more often

Trichodysplasia Spinulosa in a 20-Month-Old Girl With a Good Response to Topical Cidofovir 1%.

Trichodysplasia spinulosa (TS) is a rare entity, characterized by a follicular digitate keratosis predominantly affecting the face and variable degrees of hair loss, most severely facial hair, that occurs in immunosuppressed individuals, and is considered to be a viral infection caused by a human polyomavirus, the “TS-associated polyomavirus.” Histologically it is characterized by hair follicles with excessive inner root-sheath differentiation and intraepithelial viral inclusions. Correlation of these findings with clinical features is required for diagnosis. Treatment with antiviral agents appears to be the most effective. We report the occurrence of TS in a 20-month-old girl with multivisceral transplantation due to short-bowel syndrome secondary to intestinal atresia and gastroschisis. The patient was treated with cidofovir 1% cream, with significant improvement and without any adverse effects. We describe the youngest patient, to our knowledge, with TS.

Úlcera cutánea en niño de 9 años

ingreso del paciente para iniciar tratamiento intravenoso con anfotericina B liposomal 165 mg/dia, que se mantiene durante 9 dias. La evolucion fue favorable. Los ensayos de PCR para Leishmania son positivos y, el estudio de las secuencias SSUrRNA e ITS-1 obtenidas con las distintas PCR indican que la infeccion esta causada por un parasito perteneciente al complejo Leishmania braziliensis. Descripcion clinica del caso

Validación de las versiones españolas de los cuestionarios Parents’ Index of Quality of Life in Atopic Dermatitis (PIQoL-AD) y Quality of Life Index for Atopic Dermatitis (QoLIAD): un estudio internacional

Resumen —Antecedentes. Se han desarrollado dos instrumentos de calidad de vida relacionada con la salud (CVRS) especificos para dermatitis atopica, el Quality of life Index for Atopic Dermatitis (QoLIAD), para uso en pacientes adultos, y el Parents Index of Quality of Life in Atopic Dermatitis (PIQoL-AD), para padres de pacientes pediatricos. Objetivo . Validar las versiones espanolas de ambos cuestionarios. Metodos . Se administraron los instrumentos en un estudio observacional, multicentrico y prospectivo (2 visitas), a dos grupos de pacientes. El grupo 1 incluyo pacientes adultos con dermatitis atopica y el grupo 2 padres de ninos con dermatitis atopica. Se administraron adicionalmente el Dermatology Life Quality Index (DLQI) y el Indice de Bienestar Psicologico (IBP). Para cada cuestionario se evaluaron: efectos suelo y techo, fiabilidad interna y test-retest, validez convergente-divergente y validez de grupos conocidos. Resultados . Se incluyeron 83 pacientes (grupo 1) y 153 padres/madres (grupo 2). Para ambos grupos: los efectos techo y suelo oscilaron entre 0 y 9,2%; los coeficientes alfa de Cronbach oscilaron entre 0,88 y 0,90 y los coeficientes de Spearman entre 0,88 y 0,90. Los coeficientes de correlacion con los cuestionarios comparadores fueron 0,79 (QoLIAD-IBP), 0,76 (QoLIAD-DLQI) y 0,52 (PIQoL-AD e IBP). Las puntuaciones en el QoLIAD fueron peores cuando peor fue el estado de salud y la intensidad autopercibida de la dermatitis atopica. Las puntuaciones en el PIQoL-AD fueron peores cuando peor fue el estado de salud. En los adultos (QoLIAD) las puntuaciones de CVRS fueron peores cuando la dermatitis afectaba generalmente al rostro; por el contrario, las puntuaciones del PIQoL-AD fueron peores cuando afectaba en general a las manos. Conclusiones . Las versiones espanolas de ambos cuestionarios han mostrado una fiabilidad y una validez satisfactorias para ser utilizadas en esta poblacion.