Iatrogenic Anetoderma of Prematurity: A Case Report and Review of the Literature

Anetoderma is a skin disorder characterized by focal loss of elastic tissue in the mid dermis, resulting in localized areas of macular depressions or pouchlike herniations of skin. An iatrogenic form of anetoderma has been rarely described in extremely premature infants and has been related to the placement of monitoring devices on the patient skin. Because of the increasing survival of extremely premature infants, it is easy to foresee that the prevalence of anetoderma of prematurity will increase in the next future. Although it is a benign lesion, it persists over time and can lead to significant aesthetic damage with need for surgical correction. Sometimes the diagnosis can be difficult, especially when the atrophic lesions become evident after discharge. Here, we report on a premature infant born at 24 weeks of gestation, who developed multiple anetodermic patches of skin on the trunk at the sites where electrocardiographic electrodes were previously applied. The knowledge of the disease can encourage a more careful management of the skin of extremely premature babies and aid the physicians to diagnose the disease when anetoderma patches are first encountered later in childhood

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in in the X-linked nuclear encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a de novo mutation in NDUFB11 and displaying early onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in NDUFB11 but all are associated to a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects

Pimecrolimus in atopic dermatitis: Consensus on safety and the need to allow use in infants

Atopic dermatitis (AD) is a distressing dermatological disease, which is highly prevalent during infancy, can persist into later life and requires long-term management with anti-inflammatory compounds. The introduction of the topical calcineurin inhibitors (TCIs), tacrolimus and pimecrolimus, more than 10 yr ago was a major breakthrough for the topical anti-inflammatory treatment of AD. Pimecrolimus 1% is approved for second-line use in children (≥2 yr old) and adults with mild-to-moderate AD. The age restriction was emphasized in a boxed warning added by the FDA in January 2006, which also highlights the lack of long-term safety data and the theoretical risk of skin malignancy and lymphoma. Since then, pimecrolimus has been extensively investigated in short- and long-term studies including over 4000 infants (<2 yr old). These studies showed that pimecrolimus effectively treats AD in infants, with sustained improvement with long-term intermittent use. Unlike topical corticosteroids, long-term TCI use does not carry the risks of skin atrophy, impaired epidermal barrier function or enhanced percutaneous absorption, and so is suitable for AD treatment especially in sensitive skin areas. Most importantly, the studies of pimecrolimus in infants provided no evidence for systemic immunosuppression, and a comprehensive body of evidence from clinical studies, post-marketing surveillance and epidemiological investigations does not support potential safety concerns. In conclusion, the authors consider that the labelling restrictions regarding the use of pimecrolimus in infants are no longer justified and recommend that the validity of the boxed warning for TCIs should be reconsidered

Priority research questions in atopic dermatitis : an International Eczema Council eDelphi consensus

Recent advances in understanding the complex pathogenesis of atopic dermatitis (AD, also known as eczema or atopic eczema), coupled with the development of new treatments, have led to increased interest from multiple stakeholders. There is a need to prioritize areas for research to inform a coordinated approach to advancing science and patient care

Vascular birthmarks: A hidden world behind a word

A confusing nomenclature concerning the subject of vascular birthmark and angiomas lead (and leads!) to the consequence that parents with children affected by this kind of disorders become medical nomads, and therefore, the best treatment, when available, is frequently postponed. The concept of maternal imprint that began to crumble in the XVIII century is, unfortunately, still widespread. While a maternal responsibility as it has been conceived in the past has been definitively excluded, the pivotal classification proposed by John Mulliken that divides vascular anomalies in vascular tumors and vascular malformations is practically very useful. The rapid progress of genetic studies has explained to medical community a huge number of genotype-phenotype correlations, and it will individuate new forms in the next future. Understanding the biology of vascular birthmarks is a fundamental step forward to implement effective and specific drugs for specific forms. Discoveries by serendipity occur but are rare

dermatite atopica linee guida e raccomandazioni sidemast 2014

Definizione e aspetti generali della dermatite atopica La dermatite atopica (DA) o eczema atopico \ue8 una sindrome multifattoriale caratterizzata, sul piano clinico, da una dermatite pruriginosa, a decorso cronico-recidivante, con distribuzione tipica delle lesioni a seconda dell\u2019et\ue0 e, sul piano biologico, da una iperreattivit\ue0 cutanea. Frequentemente interessa pazienti con una storia personale o familiare di atopia e si associa sovente a un innalzamento dei valori sierici di IgE totali dirette contro allergeni ubiquitari1-5. Nei primi mesi di vita, una desquamazione giallastra sul capo, nota come \u201ccrosta lattea\u201d, pu\uf2 essere una modalit\ue0 di presentazione della DA. Questa malattia pu\uf2 quindi diffondersi sul volto e sulle superfici estensorie degli arti dei lattanti, talvolta mostrando diffusa essudazione e croste. In seguito, la tipica topografia si sviluppa con un coinvolgimento eczematoso delle pieghe, accompagnato da cute secca e disfunzione della barriera cutanea. La lichenificazione \ue8 il risultato del grattamento e dello sfregamento e, assai spesso negli adulti, pu\uf2 sfociare in DA a tipo prurigo con predominanza di lesioni nodulari escoriate. Gli episodi di esacerbazione spesso iniziano con prurito senza lesioni visibili. Ci\uf2 \ue8 seguito da eritema, papule, vescicole e infiltrazione

Dermatite atopica 2016-2017 (sidemast). revisione critica di linee guida e raccomandazioni pratiche per la gestione dei pazienti con dermatite atopica

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