Mosaicism in genodermatoses.

Abstract:

:Genodermatoses are inherited disorders presenting with cutaneous manifestations with or without the involvement of other systems. The majority of these disorders, particularly in cases that present with a cutaneous patterning, may be explained in the context of genetic mosaicism. Despite the barriers to the genetic analysis of mosaic disorders, next-generation sequencing has led to a substantial progress in understanding their pathogenesis, which has significant implications for the clinical management and genetic counseling. Advances in paired and deep sequencing technologies in particular have made the study of mosaic disorders more feasible. In this review, we provide an overview of genetic mosaicism as well as mosaic cutaneous disorders and the techniques required to study them.

journal_name

Clin Dermatol

journal_title

Clinics in dermatology

authors

Cheraghlou S,Lim Y,Choate KA

doi

10.1016/j.clindermatol.2020.03.008

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

408-420

issue

4

eissn

0738-081X

issn

1879-1131

pii

S0738-081X(20)30045-6

journal_volume

38

pub_type

杂志文章,评审
  • Cutaneous involvement in localized forms of bullous pemphigoid.

    abstract::In summary, there is much overlap among the three types of localized cutaneous pemphigoid discussed. They all tend to affect the same age group, in general. They all may remain regional or be associated with a generalized eruption consistent with bullous pemphigoid. These three variants of subepidermal blistering dise...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/0738-081x(87)90048-4

    authors: Kaplan RP

    更新日期:1987-01-01 00:00:00

  • Sentinel lymph node biopsy.

    abstract::The introduction of sentinel lymph node biopsy (SLNB) has been an important development in the management of malignant melanoma. Lymph nodes have long been known to play a key role in melanoma metastasis. The importance of nodal staging accounted for the previous surgical practice of elective lymph node dissection (EL...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2003.12.011

    authors: Lee KK,Vetto JT,Mehrany K,Swanson NA

    更新日期:2004-05-01 00:00:00

  • The rash that presents as a red swollen face.

    abstract::A red swollen face can be a skin sign of a potentially life-threatening condition. We present in detail the main clinical presentations, diagnostic tests, and management of some of the most severe conditions that can frequently present as a red and swollen face: acute or recurrent angioedema, mast cell-driven or brady...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2019.10.017

    authors: Batista M,Gonçalo M

    更新日期:2020-01-01 00:00:00

  • Cosmeceuticals and silibinin.

    abstract::Cosmeceuticals are used for nourishing and improving the appearance of the skin and are also documented as effective agents for treating various dermatologic conditions. Cosmeceutical preparations from herbal origin are most popular among consumers because these agents are mostly nontoxic and possess strong antioxidan...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2009.05.012

    authors: Singh RP,Agarwal R

    更新日期:2009-09-01 00:00:00

  • Peter the Great and sexually transmitted diseases.

    abstract::Shortly after syphilis appeared in Europe at the time of Columbus' voyage to the New World, the big pox, as it was often known, became a serious issue in Russia for diagnosis, treatment, and prevention. Members of the Russian royal family were made aware of the disease from adolescence onward. Czar Peter the Great had...

    journal_title:Clinics in dermatology

    pub_type: 历史文章,杂志文章

    doi:10.1016/j.clindermatol.2019.09.002

    authors: Zimin I,Grzybowski A

    更新日期:2020-01-01 00:00:00

  • Cutaneous zygomycosis.

    abstract::Cutaneous zygomycosis is a fungal infection caused by zygomycetes that affects the skin. It occurs in uncontrolled diabetic patients and immunosuppressed individuals. It has 2 clinical forms: primary cutaneous zygomycosis and secondary cutaneous zygomycosis. The first is characterized by necrotic lesions and the fungu...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2011.09.013

    authors: Bonifaz A,Vázquez-González D,Tirado-Sánchez A,Ponce-Olivera RM

    更新日期:2012-07-01 00:00:00

  • Psychological stress and immunoprotection versus immunopathology in the skin.

    abstract::Stress is thought to suppress immune function and increase susceptibility to infections and cancer. Paradoxically, stress is also known to exacerbate autoimmune/proinflammatory disorders (eg, psoriasis, atopic dermatitis) that should be ameliorated by immunosuppression. Here we review studies showing that although chr...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2011.11.003

    authors: Dhabhar FS

    更新日期:2013-01-01 00:00:00

  • A brief report on the history of phototherapy.

    abstract::From ancient times, light has played a significant role in the treatment of diseases. The modern discoveries (eg, ultraviolet radiation) and modern inventions (eg, the electric generator or the electric lightbulb), as well as balneologic experiences of the treatment with sunlight, contributed to the transition from he...

    journal_title:Clinics in dermatology

    pub_type: 历史文章,杂志文章

    doi:10.1016/j.clindermatol.2016.05.002

    authors: Grzybowski A,Sak J,Pawlikowski J

    更新日期:2016-09-01 00:00:00

  • The value of screening in melanoma.

    abstract::The incidence of cutaneous melanoma has increased substantially in most white populations during the past several decades. Despite improvements in the early recognition of melanoma and the use of novel diagnostic techniques that enhance our diagnostic capabilities, disease-related mortality remains a significant publi...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2008.09.002

    authors: Stratigos AJ,Katsambas AD

    更新日期:2009-01-01 00:00:00

  • Melanocytes, melanocyte stem cells, and melanoma stem cells.

    abstract::Melanocyte stem cells differ greatly from melanoma stem cells; the former provide pigmented cells during normal tissue homeostasis and repair, and the latter play an active role in a lethal form of cancer. These 2 cell types share several features and can be studied by similar methods. Aspects held in common by both m...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2012.08.014

    authors: Lang D,Mascarenhas JB,Shea CR

    更新日期:2013-03-01 00:00:00

  • Cutaneous immune-related adverse events to checkpoint inhibitors.

    abstract::The development of immunotherapy has led to a paradigm shift in the treatment of both solid and hematologic malignancies. As immunomodulatory therapies are employed with increasing frequency, a greater number of immune-related adverse reactions are being reported, and the majority of these involve the skin. As a resul...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2020.06.011

    authors: Malviya N,Tattersall IW,Leventhal J,Alloo A

    更新日期:2020-01-01 00:00:00

  • Dermatologic manifestations of parathyroid-related disorders.

    abstract::Dermatologic manifestations of parathyroid-related disorders, although rare in sporadic cases, are not uncommon in familial syndromes. Patients with familial hyperparathyroidism have several types of skin lesions. In multiple endocrine neoplasia 1, patients commonly have angiofibromas (85%) and collagenomas (70%), les...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2006.04.003

    authors: Fuleihan Gel-H,Rubeiz N

    更新日期:2006-07-01 00:00:00

  • Fellowship candidate selection at the BEST Medical Center: A novel process.

    abstract::Dr. Ida Lystic completed her MD degree at the prestigious Harvey Medical School (which has since been renamed the Harvey Provider School) and her residency in internal medicine and gastroenterology fellowship at the OTHER (Owen T. Henry and Eugene Rutherford) Medical Center. She was subsequently hired as an assistant ...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2017.03.002

    authors: Cohen PR

    更新日期:2017-01-01 00:00:00

  • Complicated surgical techniques. I. Flaps and grafts.

    abstract::Most defects in dermatologic surgery can be repaired by primary closure. If this is not feasible, then local flaps should be employed. Where flaps are unfeasible or would result in an additional cosmetic deformity, then a full-thickness skin graft should be employed. If the defect is too large for a full-thickness ski...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/0738-081x(87)90031-9

    authors: Coleman W 3rd

    更新日期:1987-10-01 00:00:00

  • Commercial preparations and handling of botulinum toxin type A and type B.

    abstract::The recognition of botulinum toxin as a therapeutic tool has revolutionized the approach to facial esthetics. In the 1970s, Dr. Alan B. Scott pioneered the use of botulinum toxin type A (BTX-A) for strabismus. This discovery led to further studies examining other clinical applications of BTX-A and, more recently, botu...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2003.11.009

    authors: Parish JL

    更新日期:2003-11-01 00:00:00

  • Economic considerations in psoriasis management.

    abstract::With a prevalence of 2% to 3%, psoriasis is a very common chronic disease worldwide and generates therapy costs and continuing cost for health insurance and patients and their families. Cost-political changes in health care and the ever increasing health-economic demands in all areas of the health system make it neces...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2007.10.024

    authors: Radtke MA,Augustin M

    更新日期:2008-09-01 00:00:00

  • Chronic urticaria as a systemic disease.

    abstract::Urticaria is one of the most common diseases seen in everyday dermatologic practice, characterized by the development of wheals, angioedema, or both. While acute urticaria is mostly related to allergic or pseudoallergic reaction to food, drugs, or infections, chronic urticaria is a more complex disease with different ...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2013.11.009

    authors: Darlenski R,Kazandjieva J,Zuberbier T,Tsankov N

    更新日期:2014-05-01 00:00:00

  • Use of antiepileptic mood stabilizers in dermatology.

    abstract::Several antiepileptic drugs (AEDs) are approved by the US Food and Drug Administration for the treatment of bipolar disorder (valproic acid, divalproex, lamotrigine, carbamazepine) and some cutaneous neuropathic pain syndromes (carbamazepine, gabapentin, pregabalin). The AEDs may be effective in the management of (1) ...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2018.08.005

    authors: Gupta MA,Pur DR,Vujcic B,Gupta AK

    更新日期:2018-01-01 00:00:00

  • Performing research in pregnancy: Challenges and perspectives.

    abstract::There are numerous barriers to conducting clinical research in pregnancy, including ethical considerations, logistical difficulties, and federal regulations. Due to these challenges, there is a paucity of data on the safe and appropriate use of dermatologic therapies in pregnancy, even for easily accessed over-the-cou...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2016.02.014

    authors: Hartman RI,Kimball AB

    更新日期:2016-05-01 00:00:00

  • The historical basis of a misconception leading to undertreating atopic dermatitis (eczema): facts and controversies.

    abstract::The quest for clarifying the pathophysiology of atopic dermatitis (eczema) has lasted for 25 centuries. Yearning to discern the primum movens of atopic dermatitis, physicians aimed to identify the curative therapy. Recent scientific efforts has brought to the light an ever-growing amount of interplaying pathophysiolog...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2009.03.009

    authors: Farhi D,Taïeb A,Tilles G,Wallach D

    更新日期:2010-01-01 00:00:00

  • Cutaneous leishmaniasis.

    abstract::Cutaneous leishmaniasis is a widespread tropical infection caused by numerous different species of Leishmania protozoa that are transmitted by sandflies. Its clinical presentations are extremely diverse and dependent on a variety of parasite and host factors that are poorly understood. Diagnosis should aim to identify...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2006.05.008

    authors: Bailey MS,Lockwood DN

    更新日期:2007-03-01 00:00:00

  • Scleroderma: nomenclature, etiology, pathogenesis, prognosis, and treatments: facts and controversies.

    abstract::Scleroderma refers to a heterogeneous group of autoimmune fibrosing disorders. The nomenclature of scleroderma has changed dramatically in recent years, with morphea (localized scleroderma), limited cutaneous systemic sclerosis, diffuse cutaneous systemic sclerosis, and systemic sclerosis sine scleroderma encompassing...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2013.01.010

    authors: Fett N

    更新日期:2013-07-01 00:00:00

  • Mechanisms of nerve injury in leprosy.

    abstract::All patients with leprosy have some degree of nerve involvement. Perineural inflammation is the histopathologic hallmark of leprosy, and this localization may reflect a vascular route of entry of Mycobacterium leprae into nerves. Once inside nerves, M. leprae are ingested by Schwann cells, with a wide array of consequ...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2014.07.008

    authors: Scollard DM,Truman RW,Ebenezer GJ

    更新日期:2015-01-01 00:00:00

  • Minimally invasive eyelid care in dermatology: medical, laser, and cosmetic therapies.

    abstract::There is a high demand for facial aesthetic enhancement, and the periorbital region is one of the first areas to show signs of aging. Many nonsurgical therapies exist to tackle these problems. These therapies are becoming more efficacious while reducing postprocedural recovery time. The goal is to restore the natural ...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2014.10.012

    authors: Fathi R,Pfeiffer ML,Tsoukas M

    更新日期:2015-03-01 00:00:00

  • Is psoriasis a bowel disease? Successful treatment with bile acids and bioflavonoids suggests it is.

    abstract::The gut is the largest lymphoid organ in the body. The human microbiome is composed of trillions of bacteria. The DNA of these bacteria dwarfs the human genome. Diet and ethanol can cause rapid shifts in the number and types of bacteria in the gut. The psoriatic microbiome is similar to that seen in alcoholics; there ...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2018.03.011

    authors: Ely PH

    更新日期:2018-01-01 00:00:00

  • Ethical issues in inpatient consultative dermatology.

    abstract::Ethical issues commonly arise in inpatient dermatology consultations. We describe the case of an inpatient suffering from a severe, undiagnosable skin condition that raises key principles of medical ethics. The four principles include autonomy, nonmaleficence, beneficence, and justice. Ethical situations faced by inpa...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2011.06.019

    authors: Hansra NK,Shinkai K,Fox LP

    更新日期:2012-09-01 00:00:00

  • Feedback practices in dermatology residency programs: building a culture for millennials.

    abstract::Corporate studies have consistently shown that millennials prefer more frequent and detailed feedback in the workplace. With most dermatology residents fitting the description of a millennial, we sought to study their preferences in feedback and then compare this to current feedback practices and cultures. Our study s...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2018.10.001

    authors: Wang JV,O'Connor M,McGuinn K,Albornoz CA,Keller M

    更新日期:2019-01-01 00:00:00

  • Nail tumors.

    abstract::Most neoplasms of the nail apparatus have different clinical appearances, courses, and biological behaviors as compared with similar tumors located elsewhere on the skin. Some of these tumors are unique to the nail, such as onychomatricoma. As a general rule, benign lesions respect the general architecture of the nail...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.clindermatol.2013.06.014

    authors: Richert B,Lecerf P,Caucanas M,André J

    更新日期:2013-09-01 00:00:00

  • Occupational acral dermatitis and where the twain shall meet.

    abstract::This contribution, which is somewhat of a departure from the usual format, will focus on dermatologic conditions that are consequences of the patients' choices of employment, hobby, or even other forms of recreation. Most of the cutaneous changes involve the hands and feet, and each is labeled according to the anatomi...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2016.09.002

    authors: Wolf R,Parish LC,Tüzün Y

    更新日期:2017-01-01 00:00:00

  • Psoriasis: Psychosomatic, somatopsychic, or both?

    abstract::Psoriasis is a chronic inflammatory disorder characterized by substantial psychiatric comorbidity. Historically, anecdotal observations have suggested that psychosocial distress can trigger flares of psoriasis, but over the past several decades, high-quality data from experimental studies support the assertion that st...

    journal_title:Clinics in dermatology

    pub_type: 杂志文章

    doi:10.1016/j.clindermatol.2018.08.009

    authors: Kwon CW,Fried RG,Nousari Y,Ritchlin C,Tausk F

    更新日期:2018-01-01 00:00:00