Search

In order to support dermatologists' interest for the fascinating area of neonatal dermatology, we provide (1) an introduction to the specifics of skin barrier in premature and full-term neonates as well as their clinical implications and (2) an example of age-dependent differential diagnoses and approach to a facial vascular stain in a neonate.

In this article we provide a brief review of systemic lupus erythematosus, juvenile dermatomyositis, systemic scleroderma, and mixed connective tissue disease in adolescents. As skin manifestations often belong to the presenting symptoms and may have a significant impact on the quality of life, dermatologists play an important role in the management of patients with connective tissue diseases. Early diagnosis and therapy onset are crucial for the patients' long-term outcome.

Background Nosocomial infections are a serious problem in the treatment of extremely low birth weight infants (ELBW, <1000g). In these patients, effective skin antisepsis is critical to prevent hospital-acquired infections and their sequelae. However, serious side effects of topical antiseptics have been repeatedly reported in extremely preterm infants and no agreement has been reached on the best product in this population. Therefore, we conducted a survey of the German NICUs aiming to investigate current practices and safety of topical antiseptics in ELBW neonates. Methods: We sent anonymized questionnaires to 166 German NICUs with the highest level of care. Results: Usable questionnaires were returned by 64 NICUs (39%). These NICUs had treated a total of 2130 patients with a birth weight<1000g in 2012. Octenidine without phenoxyethanol (OwPh) and Octenisept((R)) were the predominantly used skin antiseptics for intensive-care procedures. At least one skin complication was reported by 27% (n=17) of the NICUs. In 9 cases Octenisept((R)) was used, and in 6 cases octenidine was used. Conclusions: According to our knowledge, this is the first study surveying practices and safety of skin antisepsis in ELBWs in the German NICUs. Most German NICUs use octenidine, however, in different preparations. Skin complications including blistering, necrosis and scarring were seen with all octenidine products, a fact which has not been previously reported.

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four cases, Sanger sequencing of the KRAS gene in DNA from lesional tissue detected mutations affecting codon 146 (p.Ala146Val, p.Ala146Thr) at variable levels of mosaicism. Our findings thus corroborate the evidence of OES being a mosaic RASopathy and confirm the common etiology of OES and ECCL. KRAS codon 146 mutations, as well as the previously reported OES-associated alterations, are known oncogenic KRAS mutations with distinct functional consequences. Considering the phenotype and genotype spectrum of mosaic RASopathies, these findings suggest that the wide phenotypic variability does not only depend on the tissue distribution but also on the specific genotype.

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four cases, Sanger sequencing of the KRAS gene in DNA from lesional tissue detected mutations affecting codon 146 (p.Ala146Val, p.Ala146Thr) at variable levels of mosaicism. Our findings thus corroborate the evidence of OES being a mosaic RASopathy and confirm the common etiology of OES and ECCL. KRAS codon 146 mutations, as well as the previously reported OES-associated alterations, are known oncogenic KRAS mutations with distinct functional consequences. Considering the phenotype and genotype spectrum of mosaic RASopathies, these findings suggest that the wide phenotypic variability does not only depend on the tissue distribution but also on the specific genotype.

Background: Lupus vulgaris (LV) is the most common form of cutaneous tuberculosis (TB) in Europe, nevertheless the overall incidence is low. It constitutes about 1.5% of all extra-pulmonary cases worldwide. A slight raise in TB incidence rates among children was recently registered in Germany, which can be explained by the increased immigration. Patients and Methods: We present 2 cases of immigrated children who were diagnosed with Lupus vulagris, both clinically and histopathologically. Although the symptoms and the duration of the skin lesions were very different, both patients had a non-healing skin ulceration. Results: In our cases cultures of the skin biopsy were positive for Mycobacterium tuberculosis and the lesions showed marked improvement in response to antituberculous treatment. In the first patient, it took 6 years between occurrence of skin lesions and final diagnosis. The second patient had an extracutaneous focus, namely abdominal TB. Conclusion: We report our experience and emphasize on recent advances in the diagnosis and treatment of paediatric skin TB. Zusammenfassung Hintergrund: Trotz insgesamt niedriger Inzidenz ist der Lupus vulgaris (LV) in Europa die haufigste Form der Hauttuberkulose. Weltweit liegt die Haufigkeit eines Lupus vulgaris bei 1,5% aller extrapulmonarer Tuberkulosen. Bei Kindern wurde in den letzten Jahren ein diskreter Anstieg der Tuberkuloseinzidenz beobachtet - dies ist als Folge einer gestiegenen Immigrationsrate erklarbar. Patient und Methodik: Wir stellen 2 immigrierte Kinder mit Lupus vulgaris vor. Die Diagnose wurde bei beiden sowohl klinisch als auch histopathologisch gestellt. Beide Patienten wiesen eine nicht heilende Hautulceraction auf, wobei sowohl die Symptome als auch die Dauer der Ulceration sehr unterschiedlich waren. Ergebnisse: In beiden Fallen waren die Kulturen der Hautbiopsien fur Mykobacterium tuberculosis positiv und die Lasionen zeigten eine zunehmende Besserung unter tuberkulostatischer Therapie. Bei d

Chronic wounds, scars, burns and recalcitrant chronic inflammatory skin lesions can give rise to malignancy. These neoplasias are usually squamous cell carcinomas but basal cell carcinomas can also develop. Tumorigenesis is a severe complication of chronic ulcers as well as certain inflammatory skin diseases; early diagnosis is critical for prognosis. This article describes parallels between wound healing, chronic inflammatory skin diseases and carcinogenesis and provides advice on practical aspects of diagnosis and therapy.

Contains fulltext : 107965.pdf (publisher's version ) (Closed access), Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debre type, and wrinkly skin syndrome (WSS). The ATP6V0A2 gene encodes the a2 subunit of the V-type H(+)-ATPase, playing a role in proton translocation, and possibly also in membrane fusion. Here, we describe a highly variable phenotype in 13 patients with ARCL2, including the oldest affected individual described so far, who showed strikingly progressive dysmorphic features and heterotopic calcifications. In these individuals we identified 17 ATP6V0A2 mutations, 14 of which are novel. Furthermore, we demonstrate a localization of ATP6V0A2 at the Golgi-apparatus and a loss of the mutated ATP6V0A2 protein in patients' dermal fibroblasts. Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB or PYCR1. Furthermore, fibroblasts from patients with ATP6V0A2 mutations displayed elevated TGF-beta signalling and increased TGF-beta1 levels in the supernatant. Our current findings expand the genetic and phenotypic spectrum and suggest that, besides the known glycosylation defect, alterations in trafficking and signalling processes are potential key events in the pathogenesis of ATP6V0A2-related ARCL.