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About 2,054 results

Cutaneous manifestations of genodermatoses and primary immunodeficiency.
https://www.ncbi.nlm.nih.gov/pubmed/31329384
Dermatology Online Journal; Lewis DJ, Wu JH et. al.

Jul 22nd, 2019 - Immunodeficiency is most commonly related to inherited syndromes, infections, chemotherapy, or aging. As the population of individuals with immunodeficiency continues to grow, physicians are confronted with the task of diagnosing dermatologic disease in this population. Cutaneous involvement in immunodeficiency disorders serves as a useful tool that aids diagnosis and provides prognostic value....

The color of skin: blue diseases of the skin, nails, and mucosa.
https://doi.org/10.1016/j.clindermatol.2019.07.006
Clinics in Dermatology; Cohen PR

Jul 17th, 2019 - Diseases of the skin, hair, nails and mucosa can appear as flesh-colored lesions or may present as any of the colors of the visual spectrum. Diseases associated with blue (or shades of blue) discoloration represent a unique group of conditions that occur de novo or as a reaction to either a topical or a systemic agent to which the individual has been exposed. Blue diseases can affect the skin, ...

Extracellular signal-regulated kinase activation of self-healing Langerhans cell histio...
https://doi.org/10.1111/1346-8138.14996
The Journal of Dermatology; Kaneshima A, Yamaguchi S et. al.

Jul 4th, 2019 - A 3-month-old boy developed small papules on his trunk. After the papules increased in number, the patient was diagnosed with Langerhans cell histiocytosis based on the pathological findings. He was referred to our department for further examination. Upon initial examination, the papules and nodules were scattered on his back, abdomen and lumbar region. Because he did not present with any organ...

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.
https://doi.org/10.1111/jdv.15769
Journal of the European Academy of Dermatology and Venereology : JEADV; Edel Y, Mamet R et. al.

Jul 2nd, 2019 - From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs. To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major t...

POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditar...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604812
The British Journal of Dermatology; Toland AE

Jul 1st, 2019 - POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.|2019|Toland AE,|

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasi...
https://doi.org/10.1111/1346-8138.14978
The Journal of Dermatology; Shen L, Liu C et. al.

Jun 26th, 2019 - Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder that affects tissues derived from the ectoderm including hair, teeth and sweat glands. EDA is the major causative gene of HED. This study recruited a Chinese family with HED, including a male proband and his mother with a fetus. The proband had typical clinical features of HED and the mother had identical but milder features....

Novel PTEN mutation in Cowden syndrome: case report with late diagnosis and non-maligna...
https://www.ncbi.nlm.nih.gov/pubmed/31220904
Dermatology Online Journal; Martínez-Doménech A, García-Legaz Martínez M et. al.

Jun 21st, 2019 - Cowden syndrome (CS) is an infrequent genodermatosis caused by mutations in the phosphatase and tensin homolog (PTEN) gene in the majority of cases. As such, it belongs to the PTEN hamartoma tumor syndrome spectrum. This disease has a variable clinical expression characterized by the development of multiple hamartomatous tumors in different organs, usually during the second and third decades of...

Mal de Meleda: A great imitator.
https://doi.org/10.1016/j.clindermatol.2019.01.003
Clinics in Dermatology; Bakija-Konsuo A, Zitinski M et. al.

Jun 10th, 2019 - Mal de Meleda is an hereditary palmoplantar keratoderma named for the Mljet Island in Croatia. The lives of those affected by this disease represent a complex situation that encompasses members of a vulnerable group. They require enlightenment and should be approached with awareness, taking into account their overall psychophysical status and the environment of each patient. Those afflicted wit...

Age-specific characteristics of neutrophilic dermatoses and neutrophilic diseases in ch...
https://doi.org/10.1111/jdv.15730
Journal of the European Academy of Dermatology and Venereology : JEADV; Bucchia M, Barbarot S et. al.

Jun 5th, 2019 - Our suggested 'modern' concepts of 'neutrophilic dermatoses' (ND) and 'neutrophilic disease' were based on observations in adult patients and have not been studied in paediatric patients. Only a minority of ND occurs in children, and little is known about age-specific characteristics. To describe age-specific characteristics of ND in children and to study whether our suggested 'modern' classifi...

Hereditary Angio-Oedema for Dermatologists.
https://doi.org/10.1159/000500196
Dermatology (Basel, Switzerland); Bygum A

Jun 5th, 2019 - Among angio-oedema patients, hereditary angio-oedema (HAE) should not be overlooked. Besides skin swellings, these patients might have very painful abdominal attacks and potentially life-threatening angio-oedema of the upper airway. They will not respond to traditional anti-allergic therapy with antihistamines, corticosteroids, and adrenaline, and instead need specific drugs targeting the kalli...

Lenalidomide in the management of eosinophilic dermatosis of hematological malignancy.
https://doi.org/10.1111/1346-8138.14916
The Journal of Dermatology; Sato-Sano M, Teixeira SP et. al.

May 30th, 2019 - Eosinophilic dermatosis of hematological malignancy is a paraneoplastic skin eruption associated with chronic lymphocytic leukemia and other B-cell malignancies. It clinically resembles an insect bite reaction and it can precede the symptoms of the hematological malignancy or be related to a more aggressive course. Different treatments have been proposed, but partial response and recurrence are...

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clini...
https://doi.org/10.1111/bjd.18165
The British Journal of Dermatology; Angwin C, Ghali N et. al.

May 29th, 2019 - The Ehlers-Danlos syndromes (EDS) consist of 13 subtypes with overlapping features including joint hypermobility, skin and vascular fragility and generalized connective tissue friability. As DNA analysis has become the gold standard for investigation of EDS, transmission electron microscopy (TEM) in clinical practice is decreasing. However, owing to the use of next-generation sequencing, the fr...

Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping di...
https://doi.org/10.1111/bjd.18150
The British Journal of Dermatology References; Lovgren ML, Zhou Y et. al.

May 23rd, 2019 - Happle-Tinschert syndrome (HTS) and Curry-Jones syndrome (CJS; OMIM 601707) are rare, sporadic, multisystem disorders characterized by hypo- and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities. The blaschkoid pattern implies mosaicism, and indeed CJS was found in 2016 to be caused by a recurrent postzygotic mutation in a gene of the hedgehog s...

A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditar...
https://doi.org/10.1016/j.jid.2019.04.015
The Journal of Investigative Dermatology; Hörer S, Marrakchi S et. al.

May 14th, 2019 - Trichilemmal cysts are common hair follicle-derived intradermal cysts. The trait shows an autosomal dominant mode of transmission with incomplete penetrance. Here, we describe the pathogenetic mechanism for the development of hereditary trichilemmal cysts. By whole-exome sequencing of DNA from the blood samples of 5 affected individuals and subsequent Sanger sequencing of a family cohort includ...

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.

May 2nd, 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...

Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lym...
https://doi.org/10.1111/bjd.18091
The British Journal of Dermatology References; Wiegmann H, Reunert J et. al.

May 2nd, 2019 - The proteinase mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1), which forms part of the caspase recruitment domain-containing protein 11-B-cell lymphoma 10-MALT1 signalosome complex, plays a direct role in nuclear factor kappa B activation. Here, we describe the case of a female infant with severe immune dysregulation leading to recurrent systemic infections, failure ...

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-overview

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...

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...