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About 1,992 results

A review of cutaneous hypersensitivity reactions in infants: From common to concerning.
https://doi.org/10.1111/pde.13827
Pediatric Dermatology; Arnold KA, Gao J et. al.

Apr 26th, 2019 - Cutaneous hypersensitivity reactions in infants present in a variety of patterns. These skin eruptions can be dramatic, causing alarm in parents and medical personnel. Many of these syndromes have overlapping features, which adds to the confusion and uncertainty regarding diagnosis and management. This review discusses the spectrum of hypersensitivity responses with a focus on their presentatio...

Sign of Leser-Trelat 
https://emedicine.medscape.com/article/1097299-print

Apr 23rd, 2019 - Background The sign of Leser-Trélat, a rare finding, is the sudden eruption of multiple seborrheic keratoses caused by a malignancy. The sign of Leser-Trélat often occurs with malignant acanthosis nigricans, a more accepted sign of internal cancer. However, because seborrheic keratoses (also known as seborrheic warts, keratosis pigmentosa, and verruca senilis) and cancer are both common in elde...

Sarcoidosis occurring during BRAF/MEK inhibitors is associated with paradoxical ERK act...
https://doi.org/10.1111/jdv.15636
Journal of the European Academy of Dermatology and Venereology : JEADV; Amoura A, Haroche J et. al.

Apr 18th, 2019 - Almost 70% of patients with Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, harbor the somatic V600E mutation of the BRAF gene. BRAF and MEK inhibitors are dramatically efficacious for treating ECD, particularly in cases of life-threatening manifestations [1]. Sarcoidosis-like disorders have been described during treatments with targeted therapies for cancers [2]. We co...

Exogenous ochronosis: the failure of depigmenting creams.
https://www.ncbi.nlm.nih.gov/pubmed/31046915
Dermatology Online Journal; Sánchez-Martínez EM, García-Briz MI et. al.

Apr 14th, 2019 - Exogenous ochronosis (EO) is an entity that manifests as black-bluish or grayish-brown cutaneous hyperpigmentation, which is a consequence of the deposition of ochronotic pigment with characteristic banana-like morphology between the collagen fibers of the dermis. Both the clinical presentation and histopathology appearance are superimposable with endogenous ochronosis or alcaptonuria, a heredi...

The rash with maculopapules and fever in children.
https://doi.org/10.1016/j.clindermatol.2018.12.005
Clinics in Dermatology; Muzumdar S, Rothe MJ et. al.

Apr 14th, 2019 - Several medical conditions can cause children to present with fever and a maculopapular rash Although some presentations are benign, others may be medical emergencies, which warrant a prompt diagnosis. We review some of the more common causes of fever and maculopapular dermatitirs, rash including infectious processes (roseola; rubeola; rubella; parvovirus B19; hand, foot, and mouth disease; sca...

PAPASH, PsAPASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common b...
https://doi.org/10.1111/bjd.18003
The British Journal of Dermatology; Gottlieb J, Madrange M et. al.

Apr 13th, 2019 - PAPASH, PsAPASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens.|2019|Gottlieb J,Madrange M,Gardair C,Sbidian E,Frazier A,|

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contract...
https://doi.org/10.1111/bjd.17996
The British Journal of Dermatology; Chasseuil E, McGrath JA et. al.

Apr 11th, 2019 - Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.|2019|Chasseuil E,McGrath JA,Seo A,Balguerie X,Bodak N,|

Pain mechanisms in hereditary palmoplantar keratodermas.
https://doi.org/10.1111/bjd.17880
The British Journal of Dermatology; Weinberg RL, Coulombe PA et. al.

Mar 18th, 2019 - Palmoplantar keratodermas (PPKs) are a heterogeneous group of skin disorders characterized by thickening of the epidermis on the palms of the hands and soles of the feet. Individuals with PPKs report varying degrees of palmoplantar pain that can severely affect quality of life. To provide an overview of the scope of pain in hereditary PPKs and highlight candidate mechanisms underlying this pain...

Palmoplantar keratoderma: creating a disease burden questionnaire.
https://doi.org/10.1111/jdv.15563
Journal of the European Academy of Dermatology and Venereology : JEADV; Hickman G, Bodemer C et. al.

Mar 13th, 2019 - Palmoplantar keratoderma (PPK) constitutes a heterogenous group of disorders that may be further subdivided into hereditary and acquired forms, characterized by hyperkeratosis of the palm and sole skin [1,2]. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, substantially contributing to bet...

What does acne genetics teach us about disease pathogenesis?
https://doi.org/10.1111/bjd.17721
The British Journal of Dermatology; Common JEA, Barker JN et. al.

Mar 9th, 2019 - Acne vulgaris is a highly prevalent inflammatory skin disorder with a complex pathogenesis, characterized by comedones, papules, pustules and nodules. Familial preponderance clearly indicates a genetic basis for acne vulgaris, but until recently solid genetic associations were lacking. The advent of high-resolution genotyping array technologies has allowed for large-scale studies with both fami...

Neuronal Autoantibodies Associated with Cognitive Impairment in Melanoma Patients.
https://doi.org/10.1093/annonc/mdz083
Annals of Oncology : Official Journal of the European Society for Medical Oncology; Bartels F, Strönisch T et. al.

Mar 5th, 2019 - Cancer-related cognitive impairment is an important complication in cancer patients, yet the underlying mechanism remains unknown. Over the last decade, the field of paraneoplastic neurological syndromes has been dramatically changed by the discovery of new neuronal autoantibodies, some of them associated with cognitive impairment. We aimed to assess the prevalence of neuronal autoantibodies in...

Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using C...
https://doi.org/10.1016/j.jid.2019.02.015
The Journal of Investigative Dermatology; Takashima S, Shinkuma S et. al.

Mar 4th, 2019 - The CRISPR/Cas9 system induces site-specific double-strand breaks (DSBs), which stimulate cellular DNA repair through either the homologous recombination (HR) or non-homologous end-joining (NHEJ) pathways. The NHEJ pathway, which is activated more frequently than HR, is prone to introducing small insertions and/or deletions at the DSB site, leading to changes in the reading frame. We hypothesiz...

Hereditary angioedema: a Chinese perspective.
https://doi.org/10.1684/ejd.2018.3487
European Journal of Dermatology : EJD; Liu S, Xu Y et. al.

Mar 1st, 2019 - Hereditary angioedema (HAE) is a rare autosomal dominant disorder of vascular permeability associated with heterogeneous clinical manifestations, with prevalence estimated at 1/50,000. Most disease-causing variants lie within the SERPING1 gene, while FXII12, PLG and ANGPT1 gene variants are also reported to associate with HAE. Research on HAE in China began in the 1980s, and later studies ident...

Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma ...
https://doi.org/10.1111/1346-8138.14811
The Journal of Dermatology; Huang Y, Cai C et. al.

Feb 27th, 2019 - Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) are both autosomal dominant disorders. Recently, certain genes (HR and EPS8L3) have been found to be responsible for MUHH, while CYLD has been demonstrated to be the main pathogenic gene in MFT patients. However, there exist a number of CYLD mutation-negative MFT cases, for which the causative gene has been...

Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin l...
https://doi.org/10.1111/pde.13769
Pediatric Dermatology; Schneller-Pavelescu L, Vergara de Caso E et. al.

Feb 26th, 2019 - We report three cases of patients with pseudohypoparathyroidism or pseudopseudohypoparathyroidism. These diseases are considered GNAS inactivating mutation syndromes that are characterized by a diversity of alterations among which a particular phenotype and specific endocrine or ossification abnormalities may be found. These patients may present with hard cutaneous nodules, which can represent ...

Localization and age distribution of telangiectases in children and adolescents with he...
https://doi.org/10.1016/j.jaad.2018.11.014
Journal of the American Academy of Dermatology; Gonzalez CD, Cipriano SD et. al.

Feb 24th, 2019 - The location of telangiectases in hereditary hemorrhagic telangiectasia (HHT), as set forth in the consensus diagnostic (Curaçao) criteria, is based primarily on adults. Document the locations and numbers of telangiectases in a cohort of pediatric patients with HHT. A retrospective chart review using a standardized data collection form for site and number of telangiectases was performed for ped...

Successful treatment of progressive mucinous histiocytosis with multilayer CO2-laser ab...
https://doi.org/10.1111/jdv.15533
Journal of the European Academy of Dermatology and Venereology : JEADV; Ickrath F, Hosp C et. al.

Feb 24th, 2019 - Progressive mucinous histiocytosis (PMH) is a very rare, benign form of non-Langerhans' cell histiocytosis of the skin. Patients show characteristic 2-10 mm sized red-brown and flesh colored, non-pruritic papules, particularly on the back of the hands and the extensor sides of the forearms. Up to date seventeen respectively fifteen hereditary cases in seven respectively eight2 families and five...

Hyperglycemia is associated with psoriatic inflammation in both humans and mice.
https://doi.org/10.1016/j.jid.2019.01.029
The Journal of Investigative Dermatology; Ikumi K, Odanaka M et. al.

Feb 18th, 2019 - Chronic low-grade inflammation can cause several metabolic syndromes. Patients with psoriasis, a chronic immunological skin inflammation, often develop diabetes. However, it is not clear to date how psoriasis leads to, or is correlated with, glucose intolerance. Here, we investigate whether psoriasis itself correlates with hyperglycemia in humans and mice. In patients, severity of psoriasis was...

Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian ho...
https://doi.org/10.1111/ijd.14398
International Journal of Dermatology; Cabezas Arteaga JE, Vieira FMJ et. al.

Feb 16th, 2019 - Porphyria cutanea tarda (PCT) is the most common porphyria worldwide. The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. The aim of this study was to describe and analyze precipitating factors and family history, w...

Abnormal T-cell phenotype in episodic angioedema with hypereosinophilia (Gleich's syndr...
https://doi.org/10.1016/j.jaad.2019.02.001
Journal of the American Academy of Dermatology; Abisror N, Mekinian A et. al.

Feb 9th, 2019 - Episodic Angioedema with eosinophilia (EAE, Gleich's syndrome) is a rare disorder consisting of recurrent episodes of angioedema, hypereosinophilia and frequent elevated serum Immunoglobin M. We conducted a retrospective multicenter nationwide study regarding the clinical spectrum and therapeutic management of patients with EAE in France. Thirty patients were included with a median age at diagn...