当前位置： SCI文献检索 > JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY期刊下所有文献 > Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.

Abstract：

BACKGROUND:Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing results in individuals with these tumors are frequently normal. OBJECTIVE:To determine if genetic mosaicism accounts for such cases. METHODS:A study of 6 cases from a series of 55 patients who met criteria for diagnostic gene testing for pathogenic CYLD variants over a 5-year period (2012-2017) was performed. A novel genetic assay was used to study DNA from peripheral blood leukocytes and, where possible, matched skin and tumor tissue. RESULTS:Two patients had mosaic pathogenic CYLD variants in both the blood and skin. One of these patients transmitted a pathogenic variant to her daughter, and we report the novel phenotype of a contiguous gene deletion syndrome involving CYLD. Two patients had recurrent pathogenic variants in skin tumors from a single cluster but none detectable in the blood. LIMITATIONS:The remaining 2 patients had clinical features of mosaicism, but these cases were not solved with the assays used because of a lack of access of fresh tumor tissue. CONCLUSION:Genetic mosaicism should be considered in patients presenting with clustered cylindromas, because this may inform genetic testing and counseling of these patients.

journal_name

J Am Acad Dermatol

journal_title

Journal of the American Academy of Dermatology

authors

Arefi M,Wilson V,Muthiah S,Zwolinski S,Bajwa D,Brennan P,Blasdale K,Bourn D,Burn J,Santibanez-Koref M,Rajan N

doi

10.1016/j.jaad.2019.05.021

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

1300-1307

issue

6

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(19)30784-4

journal_volume

81

pub_type

杂志文章

相关文献

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY文献大全
  • Methylchloroisothiazolinone-methylisothiazolinone reactions in patients screened for vehicle and preservative hypersensitivity.

    abstract：:More than 1100 patients were tested with methylchloroisothiazolinone-methylisothiazolinone, 100 ppm, in aqueous and petrolatum-based patch test materials from 1985 to 1987 by members of the North American Contact Dermatitis Group. Thirteen reactions to the aqueous materials and 10 to the petrolatum-based materials wer...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/0190-9622(90)70099-4

    authors： Rietschel RL,Nethercott JR,Emmett EA,Maibach HI,Storrs FJ,Larsen WG,Adams RM,Taylor JS,Marks JG Jr,Mitchell JC

    更新日期：1990-05-01 00:00:00

  • Conventional radiotherapy in the treatment of lentigo maligna and lentigo maligna melanoma.

    abstract：:Forty cases of lentigo maligna (LM) and lentigo maligna melanoma (LMM) treated by conventional fractionated radiotherapy are reviewed. Fourteen of seventeen LM patients are alive and well 4 months to 5 years following irradiation, one patient died of intercurrent disease without recurrence, and two had residual or rec...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(82)70021-0

    authors： Harwood AR

    更新日期：1982-03-01 00:00:00

  • Unusual manifestations of secondary syphilis and abnormal humoral immune response to Treponema pallidum antigens in a homosexual man with asymptomatic human immunodeficiency virus infection.

    abstract：:The case presented here involves a 32-year-old homosexual man with human immunodeficiency virus (HIV) seropositivity and unusual manifestations of secondary syphilis. The patient presented with syphilitic keratoderma and chorioretinitis, and his appearance superficially resembled that of a patient with Reiter's syndro...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(88)70062-6

    authors： Radolf JD,Kaplan RP

    更新日期：1988-02-01 00:00:00

  • Nodular primary localized cutaneous amyloidosis: immunohistochemical evaluation and treatment with the carbon dioxide laser.

    abstract：:Nodular primary localized cutaneous amyloidosis is an uncommon disorder for which there is no consistently satisfactory treatment. The amyloid fibrils are thought to have an immunoglobulin light chain derivation and systemic involvement must be excluded in all cases. We report a patient with a large scalp lesion of no...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(86)70132-1

    authors： Truhan AP,Garden JM,Roenigk HH Jr

    更新日期：1986-06-01 00:00:00

  • Occurrence of subacute cutaneous lupus erythematosus after treatment with fluorouracil and capecitabine.

    abstract：:Capecitabine, an oral fluoropyrimidine and 5-fluorouracil (FU) prodrug recently approved for the treatment of metastatic colon and breast cancer, is currently under investigation in patients with gastric cancer. It has the advantage of oral administration, and good tolerability with its activity being comparable with ...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/j.jaad.2007.06.040

    authors： Weger W,Kränke B,Gerger A,Salmhofer W,Aberer E

    更新日期：2008-08-01 00:00:00

  • Dacarbazine-induced photosensitivity reaction.

    abstract：:Dacarbazine (DTIC-Dome) is a widely used chemotherapeutic agent employed in the therapy of malignant melanoma. In this communication, we present two patients who developed photosensitivity skin reactions immediately after its administration. Physicians using dacarbazine should be aware of this side effect and should i...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(81)70053-7

    authors： Yung CW,Winston EM,Lorincz AL

    更新日期：1981-05-01 00:00:00

  • Granulomatous and suppurative dermatitis at interferon alfa injection sites: report of 2 cases.

    abstract：:It has previously been reported that interferon alfa injection sites may develop pyoderma gangrenosum, interface dermatitis, vasculitis, or, more commonly, ulcers characterized by intravascular thrombi and a mixed inflammatory cell infiltrate. We describe 2 patients in whom granulomatous and suppurative dermatitis dev...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1067/mjd.2002.119087

    authors： Sanders S,Busam K,Tahan SR,Johnson RA,Sachs D

    更新日期：2002-04-01 00:00:00

  • Schönlein-Henoch purpura associated with gastric Helicobacter pylori infection.

    abstract：:Schönlein-Henoch purpura is characterized by palpable purpura, colicky abdominal pain, gastrointestinal hemorrhage, arthralgias, and renal involvement. Bacterial and viral infections, as well as drugs and diseases associated with immune complexes, are thought to be responsible. We describe the case of a 21-year-old wo...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/0190-9622(95)90426-3

    authors： Reinauer S,Megahed M,Goerz G,Ruzicka T,Borchard F,Susanto F,Reinauer H

    更新日期：1995-11-01 00:00:00

  • Necrolytic migratory erythema as the only presenting sign of a glucagonoma.

    abstract：:We describe a 39-year-old man with a 3-year history of a recalcitrant psoriasiform eruption that was accentuated in the intertriginous areas. Hsitopathology was consistent with psoriasis. A glucagon level was 744 pg/mL with the upper limit of normal being 130 pg/mL. Computed tomographic scan of the abdomen revealed a ...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1067/s0190-9622(02)61774-8

    authors： Johnson SM,Smoller BR,Lamps LW,Horn TD

    更新日期：2003-08-01 00:00:00

  • The risk of rash associated with ipilimumab in patients with cancer: a systematic review of the literature and meta-analysis.

    abstract：BACKGROUND:Ipilimumab is a human antibody that inhibits cytotoxic T-lymphocyte-associated antigen 4, leading to increases in T-cell activation and interleukin 2 secretion and has been approved for the treatment of advanced melanoma. Dermatologic adverse events such as rash, pruritus, and vitiligo have been reported in ...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章,meta分析,评审

    doi：10.1016/j.jaad.2012.12.963

    authors： Minkis K,Garden BC,Wu S,Pulitzer MP,Lacouture ME

    更新日期：2013-09-01 00:00:00

  • Accuracy of biopsy sampling for subtyping basal cell carcinoma.

    abstract：BACKGROUND:Basal cell carcinoma (BCC) is a common skin cancer for which the treatment and recurrence risk correlate with the histologic subtype. Limited information is available regarding the accuracy of biopsy in diagnosing BCC subtypes. OBJECTIVE:We sought to determine the correlation between BCC subtypes present in...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/j.jaad.2011.02.042

    authors： Haws AL,Rojano R,Tahan SR,Phung TL

    更新日期：2012-01-01 00:00:00

  • Bath-PUVA therapy in three patients with scleredema adultorum.

    abstract：BACKGROUND:Scleredema adultorum (SA) is a rare connective tissue disorder for which no treatment has proven to be effective. OBJECTIVE:Our purpose was to determine the effect of bath-PUVA therapy on SA. METHODS:Three patients were treated. Clinical evaluation of skin induration and thickness as well as ultrasonograph...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(98)70244-0

    authors： Hager CM,Sobhi HA,Hunzelmann N,Wickenhauser C,Scharenberg R,Krieg T,Scharffetter-Kochanek K

    更新日期：1998-02-01 00:00:00

  • Acquired brachial cutaneous dyschromatosis: a common pigmentary disorder of the arm in middle-aged women.

    abstract：:We studied 20 Caucasian middle-aged patients, mostly women, who had asymptomatic, gray-brown patches with geographic borders, occasionally interspersed with hypopigmented macules, on the dorsum of the forearms, mostly bilaterally. The distal aspect of the arms was also involved in 2 patients; the face was always spare...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：

    authors： Rongioletti F,Rebora A

    更新日期：2000-04-01 00:00:00

  • Improving nonattendance rates among pediatric patients with Medicaid or private insurance.

    abstract：BACKGROUND:Access to dermatologists is low among Medicaid-insured patients. Higher clinic nonattendance among Medicaid-insured patients might affect provider decisions to accept these patients. OBJECTIVE:To determine the effect of different scheduling policies on the attendance among children seen at a pediatric derma...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/j.jaad.2019.02.018

    authors： Chaudhry SB,Siegfried E,Sheikh UA,Simonetta C,Butala N,Armbrecht E

    更新日期：2019-08-01 00:00:00

  • Annular and semicircular lipoatrophies. Report of three cases and review of the literature.

    abstract：:Two cases of semicircular lipoatrophy and one of annular lipoatrophy are presented. The reasons why semicircular lipoatrophy, annular lipoatrophy, and annular atrophy of the ankles seem to be different clinical entities are discussed. ...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章,评审

    doi：10.1016/s0190-9622(89)70053-0

    authors： Rongioletti F,Rebora A

    更新日期：1989-03-01 00:00:00

  • Cutaneous melanoma and bilateral retinoblastoma.

    abstract：:We report the case of an otherwise healthy 37-year-old man who had had bilateral enucleation during early childhood for bilateral retinoblastomas, in addition to two cutaneous melanomas (the first appearing at age 27 years). He also had dysplastic melanocytic nevi and a history of cutaneous melanoma in his mother. Ret...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/0190-9622(90)70322-9

    authors： Albert LS,Sober AJ,Rhodes AR

    更新日期：1990-11-01 00:00:00

  • Intravenous cidofovir-induced resolution of disfiguring cutaneous human papillomavirus infection.

    abstract：:Human papillomavirus infection is one of the most common and most distressing cutaneous diseases in patients with HIV infection. It is also a common, and often therapeutically challenging, infection in individuals who are immunologically competent. A wide range of therapeutic options exists for treating cutaneous huma...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/j.jaad.2006.01.007

    authors： Kottke MD,Parker SR

    更新日期：2006-09-01 00:00:00

  • The use of EMLA cream and 1% lidocaine infiltration in men for relief of pain associated with the removal of genital warts by cryotherapy.

    abstract：BACKGROUND:Surgical procedures used to remove genital warts (cryotherapy, electrodesiccation) are painful. Attempts to reduce the discomfort of surgery by prior lidocaine infiltration anesthesia are compromised by the pain of the infiltration. OBJECTIVE:Our purpose was to determine the efficacy of topically applied li...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1016/s0190-9622(97)70218-4

    authors： Menter A,Black-Noller G,Riendeau LA,Monti KL

    更新日期：1997-07-01 00:00:00

  • Chronic pruritic eruption in patients with acquired immunodeficiency syndrome associated with increased antibody titers to mosquito salivary gland antigens.

    abstract：:Five of seven patients with acquired immunodeficiency syndrome (AIDS) who had pruritus and a chronic, nonspecific-appearing skin eruption had increased antibody titers to antigens in the salivary glands of Aedes taeniorhynchus, a salt marsh mosquito common to South Florida. We hypothesize that the pruritus and skin le...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(89)80051-9

    authors： Penneys NS,Nayar JK,Bernstein H,Knight JW

    更新日期：1989-08-01 00:00:00

  • Double-blind, parallel-group comparison of terbinafine and griseofulvin in the treatment of toenail onychomycosis.

    abstract：BACKGROUND:Griseofulvin has been used in the treatment of toenail onychomycosis with limited success. Evidence suggests that terbinafine may be more effective. OBJECTIVE:In a double-blind, parallel-group study we compared 250 mg/day terbinafine for 16 weeks with 500 mg/day griseofulvin for 52 weeks (or for shorter per...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 临床试验,杂志文章,多中心研究,随机对照试验

    doi：10.1016/0190-9622(95)91454-4

    authors： Faergemann J,Anderson C,Hersle K,Hradil E,Nordin P,Kaaman T,Molin L,Pettersson A

    更新日期：1995-05-01 00:00:00

  • Oral terbinafine in the treatment of toenail onychomycosis: North American multicenter trial.

    abstract：BACKGROUND:Onychomycosis is an increasing problem with limited therapeutic options. OBJECTIVE:We evaluated the safety and efficacy, of oral terbinafine, a new fungicidal antimycotic, in patients with toenail onychomycosis. METHODS:A North American multicenter, double-blind, placebo-controlled study evaluated the myco...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 临床试验,杂志文章,多中心研究,随机对照试验

    doi：10.1016/s0190-9622(97)70111-7

    authors： Drake LA,Shear NH,Arlette JP,Cloutier R,Danby FW,Elewski BE,Garnis-Jones S,Giroux JM,Gratton D,Gulliver W,Hull P,Jones HE,Journet M,Krol AL,Leyden JJ,Maddin SC,Ross JB,Savin RC,Scher RK,Sibbald GR,Tawfik NH,Zaia

    更新日期：1997-11-01 00:00:00

  • Brachioradial pruritus: a symptom of neuropathy.

    abstract：BACKGROUND:Brachioradial pruritus (BRP) is a localized pruritus of the dorsolateral aspect of the arm. BRP is an enigmatic condition with a controversial cause; some authors consider BRP to be a photodermatosis whereas other authors attribute BRP to compression of cervical nerve roots. OBJECTIVE:We sought to investiga...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1067/mjd.2003.494

    authors： Cohen AD,Masalha R,Medvedovsky E,Vardy DA

    更新日期：2003-06-01 00:00:00

  • Psoriasis and comorbid diseases: Implications for management.

    abstract：:As summarized in the first article in this continuing medical education series, the currently available epidemiologic data suggest that psoriasis may be a risk factor for cardiometabolic disease. Emerging data also suggest associations between psoriasis and other comorbidities beyond psoriatic arthritis, including chr...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章,评审

    doi：10.1016/j.jaad.2016.07.065

    authors： Takeshita J,Grewal S,Langan SM,Mehta NN,Ogdie A,Van Voorhees AS,Gelfand JM

    更新日期：2017-03-01 00:00:00

  • Periocular dermatitis akin to the perioral variety.

    abstract：:A persistent periocular dermatitis resulting from the prolonged use of topical fluorinated corticosteroids that resembled the perioral variety was observed in three patients. All topical therapy was ineffective until systemic tetracycline was administered. ...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(86)70218-1

    authors： Fisher AA

    更新日期：1986-10-01 00:00:00

  • Reduced risk of mortality associated with systemic psoriasis treatment in the Psoriasis Longitudinal Assessment and Registry (PSOLAR): A nested case-control analysis.

    abstract：BACKGROUND:The effects of systemic therapy on mortality risk among patients with psoriasis are not fully understood. OBJECTIVE:To evaluate the impact of systemic treatment on mortality risk in patients enrolled in the Psoriasis Longitudinal Assessment and Registry. METHODS:Nested case-control analyses were performed ...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/j.jaad.2020.08.032

    authors： Langley RG,Poulin Y,Srivastava B,Lafferty KP,Fakharzadeh S,Langholff W,Augustin M

    更新日期：2021-01-01 00:00:00

  • An analysis of reports of depression and suicide in patients treated with isotretinoin.

    abstract：BACKGROUND:The Food and Drug Administration (FDA) has received reports of depression and suicide in patients treated with isotretinoin. OBJECTIVE:Our purpose was to provide the number and describe the cases of depression and suicide reported to the FDA in US patients treated with isotretinoin and to consider the natur...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1067/mjd.2001.117730

    authors： Wysowski DK,Pitts M,Beitz J

    更新日期：2001-10-01 00:00:00

  • Assessment of the risk of cardiovascular disease in patients with rosacea.

    abstract：BACKGROUND:Recent studies have shown a higher prevalence of cardiovascular (CV) risk factors in patients with rosacea. However, it remains unknown whether rosacea represents an independent CV risk factor. OBJECTIVE:We evaluated the risk of myocardial infarction, stroke, CV death, major adverse CV events, and all-cause...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/j.jaad.2016.02.1158

    authors： Egeberg A,Hansen PR,Gislason GH,Thyssen JP

    更新日期：2016-08-01 00:00:00

  • Multicenter trial for long-term safety and efficacy comparison of 0.05% desonide and 1% hydrocortisone ointments in the treatment of atopic dermatitis in pediatric patients.

    abstract：BACKGROUND:Desonide, a class 6 nonfluorinated topical corticosteroid, has been available for more than two decades. Hydrocortisone is widely used in the treatment of dermatoses in children. OBJECTIVE:Our purpose was to compare the safety and efficacy of desonide ointment and 1.0% hydrocortisone ointment in children wi...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 临床试验,杂志文章,多中心研究,随机对照试验

    doi：10.1016/0190-9622(95)90014-4

    authors： Jorizzo J,Levy M,Lucky A,Shavin J,Goldberg G,Dunlap F,Hinds A,Strelka L,Baker M,Tuley M

    更新日期：1995-07-01 00:00:00

  • Influence of gender on survival in patients with stage I malignant melanoma.

    abstract：BACKGROUND:Women with stage I malignant melanoma (MM) have a survival advantage over men as judged by univariate analysis. However, on multivariate analysis, gender was found to be an independent predictor of survival in only 8 of 14 published studies. OBJECTIVE:This study attempts to explain the disparate findings fo...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章,评审

    doi：10.1016/0190-9622(92)70068-q

    authors： Vossaert KA,Silverman MK,Kopf AW,Bart RS,Rigel DS,Friedman RJ,Levenstein M

    更新日期：1992-03-01 00:00:00

  • Primary cutaneous aspergillosis in six leukemic children.

    abstract：:We report a cluster of primary cutaneous aspergillosis in six children with hematologic malignancy. When first seen, they had hemorrhagic bullae caused by Aspergillus flavus, Aspergillus fumigatus, and Aspergillus niger at the sites of insertion of intravenous cannulas or where arm boards had been taped to the extremi...

    journal_title：Journal of the American Academy of Dermatology

    pub_type： 杂志文章

    doi：10.1016/s0190-9622(85)80042-6

    authors： Grossman ME,Fithian EC,Behrens C,Bissinger J,Fracaro M,Neu HC

    更新日期：1985-02-01 00:00:00