Patología de las uñas en la infancia. Cómo interpretar los cambios en la superficie ungueal / Nail alterations in children. How to interpret the changes in the ungueal surface

La patología ungueal en la infancia es muy amplia y su conocimiento es imprescindible para el diagnóstico de variados procesos que muestran en las uñas su seña de identidad propia. En muchos casos la afectación ungueal es la pionera de la enfermedad, permitiendo un diagnóstico precoz. A nivel de la atención pediátrica extrahospitalaria, el conocimiento de la semiología ungueal permite orientaciones diagnósticas en las que no es preciso el uso de complejas y costosas técnicas complementarias. Revisaremos los cambios en la superficie de la lámina ungueal (cambios en la lisura, curvatura, grosor...) y su implicación clínica, mostrando especial interés en recalcar los procesos dermatológicos o sistémicos que acompañan a cada síntoma ungueal

Ungueal pathology in children is very extensive and its knowledge is essential to diagnose varied processes that leave an identifying mark on the nails. In many cases, the affected nail is the pioneer of the disease, allowing for an early diagnosis. In regards to outpatient pediatric care, knowledge of nail semiology allows for diagnostic orientations in which the use of complex and costly complementary techniques is not necessary. We review the changes on the nail plate surface (changes in smoothness, curvature, thickness, etc.) and its clinical implication, showing special interest in emphasizing the dermatological or systemic processes that accompany each ungueal symptom

Clinical and epidemiological characteristics of adult patients hospitalized for erysipelas and cellulitis.

The purpose of this investigation was to analyze the clinical and epidemiological aspects of all cases of erysipelas and infectious cellulitis admitted to a tertiary hospital during a period of five years. All patients admitted with the main diagnosis of erysipelas or cellulitis to the Department of Dermatology of the author's institution from January 2005 to May 2010 were included. Seventy patients were identified and their medical records were retrospectively reviewed so as to record the epidemiological and clinical data. Univariate and multivariable analyses were performed to analyze variables that predicted longer length of stay. The frequency of cellulitis in the lower limbs was higher in men and patients older than 65 years. Moderate/severe cellulitis in patients with basal comorbidity followed by a poor response to oral antibiotic therapy for 48 h were the most common reasons for admission. At arrival, four patients had abscessed areas. Fourteen patients developed local complications and 18 cases developed general in-hospital complications. Most patients improved or were healed with intravenous amoxicillin-clavulanate 1 g-200 mg/8 h. Intravenous amoxicillin-clavulanate 1 g-200 mg/8 h may be a good choice for empiric treatment in our setting. The development of in-hospital complications and the need for changing empiric antibiotic therapy were significant and independent variables associated with longer length of stay.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

BACKGROUND: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholesterol and 8-dehydrocholesterol. OBJECTIVES: To expand the understanding of CDPX2, clinically, biochemically and genetically. METHODS: We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay. RESULTS: In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases. CONCLUSIONS: No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases.

Una nueva mutación en el gen EDA en una familia española con displasia ectodérmica hipohidrótica ligada al cromosoma X / A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

La displasia ectodérmica hipohidrótica ligada al cromosoma X (XLHED) se caracteriza por un desarrollo anormal del pelo, los dientes y las glándulas sudoríparas. Está producida por mutaciones en el gen EDA, que se localiza en el cromosoma X y codifica para la proteína Ecdodisplasina A, miembro de la familia de ligandos relacionados con el factor de necrosis tumoral. Los varones afectados normalmente exhiben todas las características de la enfermedad, pero los portadores heterocigotos pueden mostrar manifestaciones de leves a moderadas. Aquí se describe una familia española en la que hemos identificado una mutación c.733_734insGA, previamente no descrita, en el gen EDA. Se localizaba en el exón 5 y producía un cambio en la fase de lectura en el codón 245 de la proteína, lo que daba lugar a un codón de parada prematuro tras 35 residuos. El análisis genético en familias con XLHED es fundamental para la identificación de las portadoras, para el diagnóstico prenatal y en general para proporcionar un asesoramiento genético correcto (AU)

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations. We describe the case of a Spanish family in which a novel heterozygous c.733_734insGA mutation at the EDA gene was identified. It was located in exon 5 and consisted of a frame-shift mutation at codon 245, which gave rise to an abnormal protein with a premature stop codon after 35 residues. Genetic analyses in families with XLHED are useful for checking carrier status, but they also provide information for genetic counseling and prenatal diagnosis (AU)

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations. We describe the case of a Spanish family in which a novel heterozygous c.733_734insGA mutation at the EDA gene was identified. It was located in exon 5 and consisted of a frame-shift mutation at codon 245, which gave rise to an abnormal protein with a premature stop codon after 35 residues. Genetic analyses in families with XLHED are useful for checking carrier status, but they also provide information for genetic counseling and prenatal diagnosis.

[Leonine facies in carcinoid syndrome]. / Facies leonina en el síndrome carcinoide.

Carcinoid syndrome is a rare disorder caused when elevated levels of vasoactive substances secreted by a carcinoid tumor fail to be metabolized by the liver. This can occur for a variety of reasons including metastatic invasion of the organ. Carcinoid syndrome results in elevated levels of 5-hydroxyindoleacetic acid in the urine. Clinical manifestations include: flushing, diarrhea, bronchospasm, and heart failure. We describe a patient with carcinoid syndrome and hepatic metastases, in whom the key symptom of persistent facial edema resulted in conspicuous leonine facies; there was a partial response to treatment with oral isotretinoin and intramuscular lanreotide. Differential diagnosis was made with other conditions causing facial edema. A review is performed of the various skin manifestations of carcinoid syndrome, highlighting their role in the early diagnosis and treatment of the disorder.

Facies leonina en el síndrome carcinoide / Leonine Facies in Carcinoid Syndrome

El síndrome carcinoide es un proceso infrecuente que se produce por la presencia en el organismo de niveles elevados de sustancias vasoactivas secretadas por un tumor carcinoide y no metabolizadas por el hígado, debido a diversas circunstancias, entre ellas la invasión metastásica del mismo. Se traduce en una elevación del 5-hidroxi-indol-acético en orina. Clínicamente cursa con síntomas cutáneos (episodios de rubefacción-flushing), digestivos (diarrea), respiratorios (broncoespasmo) y cardiovasculares (insuficiencia cardiaca). Describimos el caso de un paciente con síndrome carcinoide con metástasis hepáticas cuyo síntoma guía fue el edema facial, que se hizo persistente otorgándole una facies leonina muy llamativa, que respondió parcialmente al tratamiento con isotretinoína por vía oral y lanreótida intramuscular. Realizamos diagnóstico diferencial con otros cuadros que cursan con edema facial y revisamos las diversas manifestaciones cutáneas que pueden surgir en el síndrome carcinoide, destacando su importancia para realizar un diagnóstico y tratamiento precoces del proceso (AU)

Carcinoid syndrome is a rare disorder caused when elevated levels of vasoactive substances secreted by a carcinoid tumor fail to be metabolized by the liver. This can occur for a variety of reasons including metastatic invasion of the organ. Carcinoid syndrome results in elevated levels of 5-hydroxyindoleacetic acid in the urine. Clinical manifestations include: flushing, diarrhea, bronchospasm, and heart failure. We describe a patient with carcinoid syndrome and hepatic metastases, in whom the key symptom of persistent facial edema resulted in conspicuous leonine facies; there was a partial response to treatment with oral isotretinoin and intramuscular lanreotide. Differential diagnosis was made with other conditions causing facial edema. A review is performed of the various skin manifestations of carcinoid syndrome, highlighting their role in the early diagnosis and treatment of the disorder (AU)

Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.

BACKGROUND: Recessive X-linked ichthyosis (RXLI) (OMIM 308100) is a genodermatosis characterized by polygonal, dark, adherent and mild-to-moderate scales that normally improve during summer. RXLI is caused by a deficiency in steroid sulphatase (STS), whose gene has been located on the X chromosome (locus Xp22.3). Up to 90% of the mutations described in this gene are complete deletions. OBJECTIVES: Previous reports of partial deletion of STS gene in cases of RXLI prompted us to determine the incidence of these abnormalities in a Spanish population. METHODS: We have studied exons 1, 5 and 10 of the STS gene by polymerase chain reaction in 40 patients with clinical features of RXLI. RESULTS: Our results revealed that 30 patients presented complete deletions (75%) while 10 patients had partial deletions (25%) a rate higher than that reported in the previous studies. CONCLUSIONS: Amplification of exons 1, 5 and 10 is reliable in screening RXLI in the population studied here. No correlation was found between phenotype and the extent of the deletions.

Primary cutaneous T-cell lymphoproliferative disorder of donor origin after allogeneic haematopoietic stem-cell transplantation.

A 56-year-old male patient had a history of mantle-cell lymphoma, which was treated with polychemotherapy and reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation (ASCT) from his healthy sister with an identical human leucocyte antigen profile. Six years after transplantation, the patient developed asymptomatic eczema-like cutaneous lesions. Histologically the lesions contained a dense superficial lichenoid infiltrate, mainly consisting of CD4+ atypical medium to large lymphocytes showing indented hyperchromatic nuclei. In situ hybridization for Epstein-Barr virus was negative. PCR amplification of the T-cell receptor-gamma chain gene from several lesions revealed a monoclonal rearrangement without clonal variation. Two-colour fluorescence in situ hybridization (X and Y chromosomes) and microsatellite genotyping were used to compare samples from the patient (transplant recipient), his sister (donor) and the skin biopsy sample, which confirmed that the origin of the neoplastic cells was the donor graft. To our knowledge, this is the first case of post-transplant primary cutaneous T-cell lymphoproliferative disorder after ASCT.

[Antibiotic prophylaxis in dermatologic surgery]. / Profilaxis antibiótica en cirugía dermatológica.

This article discusses factors to take into consideration for the rational use of antibiotics to prevent postoperative infection in dermatologic surgery. The treatment of choice is described.

Profilaxis antibiótica en cirugía dermatológica / Antibiotic prophylaxis in dermatologic surgery

Se analizan los factores a considerar en el uso racional de los antibióticos en la cirugía dermatológica con el objeto de evitar la infección postoperatoria. Se describe el tratamiento de elección (AU)

This article discusses factors to take into consideration for the rational use of antibiotics to prevent postoperative infection in dermatologic surgery. The treatment of choice is described (AU)