Mibelli revisited: a case of type 2 segmental porokeratosis from 1893.

Abstract:

:In autosomal dominant skin disorders, a pronounced mosaic involvement may sometimes be found to be superimposed on the ordinary nonsegmental lesions. Such "type 2 segmental manifestation" reflects loss of heterozygosity occurring at an early developmental stage, giving rise to a cell clone that lacks the corresponding wild-type allele. Here, this genetic concept is applied to an unusual case of plaque-type porokeratosis of Mibelli (PM) as published in 1893 by Vittorio Mibelli in the International Atlas of Rare Skin Diseases. The right forearm and hand of the 21-year-old patient showed a pronounced linear porokeratosis that had developed since the age of 2 years. Moreover, nonsegmental lesions of PM involved both hands and forearms as well as the face and the neck, having first been noticed at the age of 7 years. Two siblings and the father were likewise affected with PM. Hence, Mibelli's case from 1893 meets all of the criteria of a type 2 segmental manifestation of an autosomal dominant skin disorder. Recognizing such cases of superimposed segmental involvement may help elucidate the molecular basis of PM.

journal_name

J Am Acad Dermatol

authors

Happle R

doi

10.1016/j.jaad.2008.12.049

subject

Has Abstract

pub_date

2010-01-01 00:00:00

pages

136-138

issue

1

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(09)00073-5

journal_volume

62

pub_type

传,历史文章,杂志文章
  • Vascular malformations. Part II: associated syndromes.

    abstract:UNLABELLED:Cutaneous vascular malformations are rare disorders representing errors in vascular development. These lesions occur much less commonly but are often confused with the common infantile hemangioma. It is important to properly diagnose vascular malformations because of their distinct differences in morbidity, ...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jaad.2006.05.066

    authors: Garzon MC,Huang JT,Enjolras O,Frieden IJ

    更新日期:2007-04-01 00:00:00

  • Mycobacterium abscessus cellulitis and multifocal abscesses of the breasts in a transsexual from illicit intramammary injections of silicone.

    abstract::We report the case of a 29-year-old transsexual who developed Mycobacterium abscessus infection after receiving intramammary liquid silicone injections in the nonphysician office setting. Our patient represents 1 of 14 confirmed and 11 suspected cases in New York City of M abscessus infection after illicit cosmetic pr...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2003.09.008

    authors: Fox LP,Geyer AS,Husain S,Della-Latta P,Grossman ME

    更新日期:2004-03-01 00:00:00

  • The contact urticaria syndrome--an updated review.

    abstract::The term "the contact urticaria syndrome," proposed in 1975, has been generally accepted and led to proliferation of new examples. This paper summarizes this clinical material and presents a diagnostic and pathogenetic evaluation method. The risks (and minimization, thereof) of systemic skin test-induced reactions are...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/s0190-9622(81)70099-9

    authors: von Krogh G,Maibach HI

    更新日期:1981-09-01 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

  • Two decades of using the combination of tetracycline derivatives and niacinamide as steroid-sparing agents in the management of pemphigus: defining a niche for these low toxicity agents.

    abstract:BACKGROUND:The twin goals of long-term disease control and minimizing toxicities related to immunosuppression necessitate efforts to find effective steroid-sparing agents in the management of patients with autoimmune bullous diseases. Pemphigus especially requires a long view, because the disease can persist throughout...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2014.04.040

    authors: McCarty M,Fivenson D

    更新日期:2014-09-01 00:00:00

  • Subcutaneous fat in normal and diseased states: 1. Introduction.

    abstract::In recent years, our understanding of adipose tissue physiology and function has undergone an enormous transformation. Once considered a passive storage receptacle with a fixed number of cells and limited purpose, adipose tissue is now recognized as a complicated organ with important endocrine and metabolic functions....

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jaad.2005.05.014

    authors: Avram MM,Avram AS,James WD

    更新日期:2005-10-01 00:00:00

  • Application of Mohs micrographic surgery appropriate-use criteria to skin cancers at a university health system.

    abstract:BACKGROUND:Mohs micrographic surgery (MMS) is an effective treatment for skin cancer. Until recently, it has been difficult to determine the percentage of skin cancers best treated with MMS. The appropriate-use criteria represents an opportunity to more accurately estimate this number. OBJECTIVE:We sought to apply the...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2014.02.025

    authors: Blechman AB,Patterson JW,Russell MA

    更新日期:2014-07-01 00:00:00

  • Unusual aspects of juvenile xanthogranuloma.

    abstract::We describe three unusual features of juvenile xanthogranuloma that were observed in three different children. We also describe the mixed and clustered forms of juvenile xanthogranuloma and a giant juvenile xanthogranuloma of the nose. ...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/0190-9622(93)70259-v

    authors: Caputo R,Grimalt R,Gelmetti C,Cottoni F

    更新日期:1993-11-01 00:00:00

  • The psychological effects of androgenetic alopecia in men.

    abstract:BACKGROUND:Despite the prevalence of androgenetic alopecia among men, little is known about its psychological effects. OBJECTIVE:This investigation examined the psychosocial sequelae that balding men attribute to hair loss and compared balding and nonbalding men in personality functioning. METHODS:Subjects included 6...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/0190-9622(92)70134-2

    authors: Cash TF

    更新日期:1992-06-01 00:00:00

  • Keratoacanthoma as a postoperative complication of skin cancer excision.

    abstract:BACKGROUND:Keratoacanthomas usually occur spontaneously as a single rapidly growing tumor on sun-exposed skin. Multiple keratoacanthomas are rarely seen. Keratoacanthomas may also develop after trauma, laser resurfacing, radiation therapy, and at the donor site after skin grafting. OBJECTIVE:We report 6 cases of kerat...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2003.11.065

    authors: Goldberg LH,Silapunt S,Beyrau KK,Peterson SR,Friedman PM,Alam M

    更新日期:2004-05-01 00:00:00

  • Psoriasis and risk of diabetes-associated microvascular and macrovascular complications.

    abstract:BACKGROUND:Psoriasis's effect on diabetes onset is well documented, but its effect on course of diabetes is poorly understood. OBJECTIVE:We sought to compare risks of developing microvascular and macrovascular complications between diabetic patients with and without psoriasis. METHODS:Adults with 2 or more diabetes d...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2015.02.1095

    authors: Armstrong AW,Guérin A,Sundaram M,Wu EQ,Faust ES,Ionescu-Ittu R,Mulani P

    更新日期:2015-06-01 00:00:00

  • Cutaneous mucormycosis.

    abstract::We report two cases of primary cutaneous mucormycosis in immunocompromised patients. Although their clinical presentation showed nonspecific necrotic ulcers, the histopathologic features were diagnostic. In both cases, broad, branching, nonseptate hyphae were found in the dermis and subcutaneous tissue. In one case th...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/s0190-9622(89)70336-4

    authors: Umbert IJ,Su WP

    更新日期:1989-12-01 00:00:00

  • Oedemerid blister beetle dermatosis: a review.

    abstract::Blister beetle dermatosis is a distinctive vesiculobullous eruption that occurs after contact with three major groups of beetles (Order: Coleoptera). It is caused by a vesicant chemical contained in the body fluids of the beetles. The smallest and least known family is the Oedemeridae. Although there are few reference...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/0190-9622(90)70114-w

    authors: Nicholls DS,Christmas TI,Greig DE

    更新日期:1990-05-01 00:00:00

  • Ocular melanoma in families with dysplastic nevus syndrome.

    abstract::Five families with the dysplastic nevus syndrome, in each of which one member had ocular melanoma, are reported. These five families were examined within a 3-year period in one medical center. To date only five other families with such a combination have been reported. We suggest a causal relation between ocular melan...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/0190-9622(90)70304-z

    authors: Vink J,Crijns MB,Mooy CM,Bergman W,Oosterhuis JA,Went LN

    更新日期:1990-11-01 00:00:00

  • Eosinophilic pustular folliculitis.

    abstract::We present the case of an American adult patient with eosinophilic pustular folliculitis. The majority of previously reported patients have been Japanese. Eosinophilic pustular folliculitis is a rare condition characterized by recurrent, peripherally expanding, sterile papulopustules and plaques. Hair-bearing areas su...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/s0190-9622(86)70061-3

    authors: Jaliman HD,Phelps RG,Fleischmajer R

    更新日期:1986-03-01 00:00:00

  • Cutaneous lesions of disseminated histoplasmosis in human immunodeficiency virus-infected patients.

    abstract::Disseminated histoplasmosis is being diagnosed more frequently in persons infected with the human immunodeficiency virus and is often the initial manifestation of the acquired immunodeficiency syndrome (AIDS). Disease-related cutaneous features of HIV-associated disseminated histoplasmosis are defined as mucocutaneous...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/0190-9622(90)70235-a

    authors: Cohen PR,Bank DE,Silvers DN,Grossman ME

    更新日期:1990-09-01 00:00:00

  • Erlotinib-related skin toxicities: treatment strategies in patients with metastatic non-small cell lung cancer.

    abstract::Skin toxicities are the most common side effects associated with the epidermal growth factor receptor inhibitor erlotinib, occurring in most patients receiving the drug. Clinical trials evaluating erlotinib for the treatment of non-small cell lung cancer have reported a range of skin disorders, the most common being a...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jaad.2013.02.025

    authors: Kiyohara Y,Yamazaki N,Kishi A

    更新日期:2013-09-01 00:00:00

  • Actinic reticuloid. A clinical photobiologic, histopathologic, and follow-u study of 16 patients.

    abstract::We report a detailed clinical, histopathologic, and photobiologic study of 16 Dutch patients with actinic reticuloid. All were middle-aged or elderly men who had persistent plaques on light-exposed skin only (two patients), extension of lesions to nonexposed areas (four patients), or prolonged or persistent episodes o...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:

    authors: Toonstra J,Henquet CJ,van Weelden H,van der Putte SC,van Vloten WA

    更新日期:1989-08-01 00:00:00

  • Extended efalizumab therapy improves chronic plaque psoriasis: results from a randomized phase III trial.

    abstract:BACKGROUND:Efalizumab inhibits multiple T-cell-mediated processes. OBJECTIVE:To evaluate 12- and 24-week efalizumab therapy for psoriasis. METHODS:In this phase III, randomized, double-blind trial, 498 patients received subcutaneous 1 or 2 mg/kg/wk efalizumab or placebo for 12 weeks. Efalizumab-treated patients who a...

    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/j.jaad.2004.09.029

    authors: Leonardi CL,Papp KA,Gordon KB,Menter A,Feldman SR,Caro I,Walicke PA,Compton PG,Gottlieb AB,Efalizumab Study Group.

    更新日期:2005-03-01 00:00:00

  • Malignant melanoma of the eyelid. A report of eight cases and a review of the literature.

    abstract:BACKGROUND:Because of the relatively rare occurrence of malignant melanoma (MM) of the eyelid, prognostic factors in relation to survival in these patients have not been established. OBJECTIVE:Our purpose was to examine prognostic indicators in relation to survival in patients with MM of the eyelid. METHODS:All patie...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/0190-9622(92)70148-9

    authors: Tahery DP,Goldberg R,Moy RL

    更新日期:1992-07-01 00:00:00

  • Deep cutaneous infection by Fusarium solani in a healthy child: successful treatment with local heat therapy.

    abstract::We describe a 6-year-old boy with a granulomatous lesion on the upper aspect of his left arm. Fusarium solani infection was confirmed by biopsy studies and cultures. The biopsy specimen showed an unusually extensive dermal invasion with fungal hyphae. This is an uncommon clinical presentation for deep cutaneous infect...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2006.10.960

    authors: Nakamura Y,Xu X,Saito Y,Tateishi T,Takahashi T,Kawachi Y,Otsuka F

    更新日期:2007-05-01 00:00:00

  • T-cell clonality of peripheral blood lymphocytes in patients with lymphomatoid papulosis.

    abstract::Six patients with lymphomatoid papulosis demonstrated a clonal T-cell population in skin lesions by polymerase chain reaction methods. Two of these patients showed identical T-cell clones in their peripheral blood T cells as well. In one case, the clone persisted in the blood despite clearing of skin lesions with meth...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2005.01.014

    authors: Schultz JC,Granados S,Vonderheid EC,Hwang ST

    更新日期:2005-07-01 00:00:00

  • Treatment of pustular psoriasis: from the Medical Board of the National Psoriasis Foundation.

    abstract:BACKGROUND:A task force of the National Psoriasis Foundation Medical Board was convened to evaluate treatment options for pustular psoriasis. Meetings were held by teleconference. Consensus on treatment of pustular psoriasis was achieved. Pustular psoriasis has been classified into localized and generalized forms. Ther...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 共识发展会议,杂志文章

    doi:10.1016/j.jaad.2011.01.032

    authors: Robinson A,Van Voorhees AS,Hsu S,Korman NJ,Lebwohl MG,Bebo BF Jr,Kalb RE

    更新日期:2012-08-01 00:00:00

  • Guidelines of care for the management of psoriasis and psoriatic arthritis: Section 5. Guidelines of care for the treatment of psoriasis with phototherapy and photochemotherapy.

    abstract::Psoriasis is a common, chronic, inflammatory, multisystem disease with predominantly skin and joint manifestations affecting approximately 2% of the population. In this fifth of 6 sections of the guidelines of care for psoriasis, we discuss the use of ultraviolet (UV) light therapy for the treatment of patients with p...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jaad.2009.08.026

    authors: Menter A,Korman NJ,Elmets CA,Feldman SR,Gelfand JM,Gordon KB,Gottlieb A,Koo JYM,Lebwohl M,Lim HW,Van Voorhees AS,Beutner KR,Bhushan R

    更新日期:2010-01-01 00:00:00

  • Acquired poikiloderma: proposed classification and diagnostic approach.

    abstract::"Poikiloderma" is a morphologic and descriptive term referring to a combination of cutaneous atrophy, telangiectasia, and varied macular pigmentary changes that result in a mottled skin appearance. Its etiology includes both congenital and acquired causes. Many studies have reported different causes of acquired poikil...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jaad.2012.06.015

    authors: Nofal A,Salah E

    更新日期:2013-09-01 00:00:00

  • Essential syphilitic alopecia revisited.

    abstract::There has been a resurgence of syphilis in the past decade. Uncommonly, diffuse hair loss, termed essential alopecia, is the only sign of syphilitic infection. We describe two patients with syphilis in whom the first sign of disease was alopecia and discuss the clinical and histopathologic findings of essential syphil...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/0190-9622(95)91543-5

    authors: Cuozzo DW,Benson PM,Sperling LC,Skelton HG 3rd

    更新日期:1995-05-01 00:00:00

  • Treatment of recalcitrant bullous pemphigoid (BP) with a novel protocol: A retrospective study with a 6-year follow-up.

    abstract:BACKGROUND:Bullous pemphigoid is an autoimmune blistering skin disease that predominantly affects the elderly. Conventional therapy using high-dose systemic corticosteroids and immunosuppressive agents can be ineffective in some patients and produce adverse events and relapses. Hence, alternate therapies are required. ...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2015.11.030

    authors: Ahmed AR,Shetty S,Kaveri S,Spigelman ZS

    更新日期:2016-04-01 00:00:00

  • Chemotherapy-induced alopecia.

    abstract::Chemotherapy-induced alopecia is a distressing side effect common to certain treatment regimens in oncology. Unfortunately, chemotherapy-induced alopecia is an often overlooked or minor factor among our current research priorities and thus advances in amelioration have been minimal. This review offers a comprehensive ...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jaad.2011.02.026

    authors: Chon SY,Champion RW,Geddes ER,Rashid RM

    更新日期:2012-07-01 00:00:00

  • Reduced skin irritation with tretinoin containing polyolprepolymer-2, a new topical tretinoin delivery system: a summary of preclinical and clinical investigations.

    abstract::Novel tretinoin cream and gel formulations have been developed that incorporate polyolprepolymer-2, which is a material designed to help retain drug molecules in and on the skin when applied in topical vehicles. The results of preclinical and clinical investigations have confirmed the beneficial impact of such a vehic...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章,评审

    doi:10.1016/s0190-9622(98)70139-2

    authors: Quigley JW,Bucks DA

    更新日期:1998-04-01 00:00:00

  • Simplifying contraception requirements for iPLEDGE: A decision analysis.

    abstract:BACKGROUND:For persons of childbearing potential prescribed isotretinoin, the iPLEDGE program requires use of 2 simultaneous methods of contraception or commitment to abstinence. OBJECTIVE:To model the relative effectiveness of a variety of contraception strategies for patients taking isotretinoin, including those tha...

    journal_title:Journal of the American Academy of Dermatology

    pub_type: 杂志文章

    doi:10.1016/j.jaad.2020.02.022

    authors: Barbieri JS,Roe AH,Mostaghimi A

    更新日期:2020-07-01 00:00:00