Monoallelic expression on autosomes may explain an unusual heritable form of pigmentary mosaicism: a historical case revisited.

Abstract:

:A peculiar observation published in 1971 by Chernosky et al. is revisited in this paper. An African American mother and three of her four children (two girls and one boy) had hyperpigmented skin areas arranged along Blaschko's lines. According to the current knowledge of formal genetics, a mendelian mode of transmission can be excluded, and paradominant inheritance is likewise highly unlikely. The unusual family constellation of pigmentary mosaicism can be best explained as an example of monoallelic autosomal expression, a concept that is now well established in the genetics of plants and animals but so far unexplored in human skin disorders. Either the paternal or the maternal allele is randomly inactivated, therefore this mechanism can be taken as an autosomal counterpart of X-chromosome inactivation. Recent studies suggest that 5-10% of autosomal human genes are monoallelically expressed. This theory opens a new field of research in dermatology. Clinicians should consider this new aetiological concept when observing cases of hereditary cutaneous mosaicism that cannot be explained by X-linkage.

journal_name

Clin Exp Dermatol

authors

Happle R

doi

10.1111/j.1365-2230.2009.03543.x

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

834-7

issue

7

eissn

0307-6938

issn

1365-2230

pii

CED3543

journal_volume

34

pub_type

信件
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    abstract::Small tufts of chest hair were epilated at different rates and the roots classified as to growth phase, presence or absence of root sheaths and whether the shafts were fractured. With respect to anagen roots, a slow epilation gives bare roots whereas an increase in the rate of epilation increases the proportion of ens...

    journal_title:Clinical and experimental dermatology

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  • A tribute to Robert Willan in Bloomsbury Square.

    abstract::Robert Willan is commemorated by a blue plaque on the house in which he lived in Bloomsbury Square in London. He lived there during a productive period of his career, until ill-health caused him to travel to Madeira, where he died. This fitting tribute to Willan is the result of the efforts of Dr. Henry MacCormac, him...

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  • Thromboangiitis obliterans (Bürger's disease) in a woman--a case report and review of the literature.

    abstract::We report the case of a 43-year-old woman, a longstanding heavy cigarette smoker, who developed Bürger's disease, leading to mid-thigh amputation of her left leg. After she gave up smoking her disease was arrested but Raynaud's phenomenon continues to affect her hands and right foot. In reviewing the literature, we fo...

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    doi:10.1111/j.1365-2230.1990.tb02019.x

    authors: Abdullah AN,Keczkes K

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    abstract::Rapp-Hodgkin syndrome (RHS) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/cleft palate. Very recently, mutations in p63 have been identified as a cause of RHS; to date five such mutations have been identified. We describe a Thai girl with RHS. She had short stature, ectodermal d...

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    pub_type: 杂志文章

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    authors: Shotelersuk V,Janklat S,Siriwan P,Tongkobpetch S

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  • Tumoral calcinosis: an unusual cause of cutaneous calcification.

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    doi:

    authors: Harwood CA,Cook MG,Mortimer PS

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    abstract::Three patients with subungual exostoses, two involving the great toe and one the fourth toe, are presented. Local excision was performed, and the specimens were processed for light and electron microscopy. Light-microscopic study revealed that the tumours consisted of a proliferative fibrocartilaginous cap that merged...

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    doi:10.1111/j.1365-2230.1990.tb02137.x

    authors: Kato H,Nakagawa K,Tsuji T,Hamada T

    更新日期:1990-11-01 00:00:00

  • Depigmentation therapy in vitiligo universalis with cryotherapy and 4-hydroxyanisole.

    abstract::Vitiligo is a disease characterized by the loss of melanocytes, resulting in progressive depigmentation of skin, and areas of normally pigmented skin can be of cosmetic concern. Several options have been tried to remove the pigment and make the skin a more even colour. We present an easy and effective therapeutic proc...

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    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2009.03412.x

    authors: Di Nuzzo S,Masotti A

    更新日期:2010-03-01 00:00:00

  • Therapeutic efficacy and safety of oral tranexamic acid and that of tranexamic acid local infiltration with microinjections in patients with melasma: a comparative study.

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    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/ced.13164

    authors: Sharma R,Mahajan VK,Mehta KS,Chauhan PS,Rawat R,Shiny TN

    更新日期:2017-10-01 00:00:00

  • Incipient osteomalacia occurring in chronic actinic dermatitis.

    abstract::Incipient osteomalacia developed in a Pakistani patient living in the UK after strict sunlight avoidance forming part of the management of the photosensitivity disorder, chronic actinic dermatitis. The patient's skin type and diet, which included calcium-binding phytates in chappattis, had increased his risk of the co...

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    pub_type: 杂志文章

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    authors: Kapur N,Creamer D,Hawk J

    更新日期:2000-07-01 00:00:00

  • Usefulness of the AMeX method for immunostaining with antikeratin antibodies.

    abstract::We performed an immunohistochemical study with 11 antikeratin antibodies using the newly developed AMeX (acetone-methylbenzoate-xylene) tissue processing method. Specimens processed with this method showed almost as good preservation and morphological detail as routinely processed, formalin-fixed and paraffin-embedded...

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    doi:10.1111/j.1365-2230.1994.tb01247.x

    authors: Ansai SI,Koseki S,Hozumi Y,Kondo S

    更新日期:1994-11-01 00:00:00

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    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

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    authors: Singal A,Thami GP,Goraya JS

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    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2008.02825.x

    authors: Degiovanni CV,Farrant PB,Howell S,Hull PR,Woollons A

    更新日期:2009-03-01 00:00:00

  • Circulating miR-142-3p levels in patients with systemic sclerosis.

    abstract:BACKGROUND:Recently, increased evidence has shown that serum micro (mi)RNA levels are a useful biomarker for the diagnosis, prognosis and therapeutic value of various diseases. However, serum miRNA has not been investigated in patients with systemic sclerosis (SSc), to our knowledge. AIM:To investigate the possibility...

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    doi:10.1111/j.1365-2230.2011.04158.x

    authors: Makino K,Jinnin M,Kajihara I,Honda N,Sakai K,Masuguchi S,Fukushima S,Inoue Y,Ihn H

    更新日期:2012-01-01 00:00:00

  • Antipsoriatic effect of semi-occlusive treatment--O2-consumption, blood flow and temperature measurements compared to clinical parameters.

    abstract::Ten patients with plaque-type psoriasis were treated by applying semi-permeable hydrocolloid dressings (Com-feel, Coloplast, Denmark) and the effect compared to untreated skin. The treatment effect was evaluated by: (a) O2-consumption as measured by a TCM-2 oxygen-monitor; (b) blood flow as measured by laser-Doppler f...

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    doi:10.1111/j.1365-2230.1989.tb01981.x

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    abstract::Contact hypersensitivity from topical corticosteroids is becoming increasingly recognized; it is present in 2-5% of the patients attending contact dermatitis clinics. The use of a corticosteroid series containing tixocortal pivalate 1% (petrolatum), to detect hypersensitivity to hydrocortisone, and other steroids 1% (...

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  • Acneiform follicular mucinosis.

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    doi:10.1111/j.1365-2230.2004.01551.x

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  • Efficacy of topical corticosteroids in nickel-induced contact allergy.

    abstract::In this study we used the nickel contact allergy patch (CAP) test to investigate the effect of topical corticosteroids on allergic contact dermatitis (ACD). On day 1, three CAP tests were applied for 48 h on the forearms of 20 female volunteers with a known nickel ACD. CAP of the right forearm contained 5% nickel, and...

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    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.0307-6938.2001.00963.x

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  • Dermatological manifestations of Down's syndrome.

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    doi:10.1111/j.1365-2230.2006.02164.x

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    abstract::A 59-year-old woman with a single cuff-like plaque, consisting of multiple skin-coloured to bluish cysts and comedones on her right forearm is reported. The solitary lesion resembled, morphologically and histologically, the Favre-Racouchot syndrome. The above condition is another case of the previously described actin...

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    doi:10.1111/j.1365-2230.1993.tb02181.x

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  • Time to progression from discoid lupus erythematosus to systemic lupus erythematosus: a retrospective cohort study.

    abstract::Determining the risk of progression to systemic lupus erythematosus (SLE) among patients diagnosed with discoid lupus erythematosus (DLE), and the time frame of this risk, are important clinical questions. Past reports have demonstrated a wide time frame of progression from DLE to SLE, with mean time to progression of...

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    doi:10.1111/ced.14014

    authors: Elman SA,Joyce C,Costenbader KH,Merola JF

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  • Demyelination during anti-tumour necrosis factor therapy for psoriasis.

    abstract::Anti-tumour necrosis factor (anti-TNF) therapies have been associated with neurological complications, including in rare cases demyelinating disease. It is currently unknown whether patients who have received more than one immunosuppressive agent or anti-TNF have a greater risk of demyelination. We report the case of ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.13412

    authors: Boggs JME,Barnes L

    更新日期:2018-07-01 00:00:00

  • Neonatal lupus erythematosus.

    abstract::We present a case of neonatal lupus erythematosus (NLE) in a black infant presenting with symmetrical depigmented macules on the face resembling vitiligo. NLE is a rare condition affecting newborn infants of mothers who have connective tissue disease, with or without autoantibodies to extractable nuclear antigens Ro (...

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    doi:10.1111/j.1365-2230.1994.tb02695.x

    authors: Jenkins RE,Kurwa AR,Atherton DJ,Black MM

    更新日期:1994-09-01 00:00:00

  • T-cell receptor gene analysis in cutaneous T-cell lymphomas.

    abstract::An essential property of the immune system is its ability to generate diverse antibody and T-cell mediated responses to virtually any potential foreign particle. The basic molecular mechanisms responsible for producing this extensive diversity have now been elucidated. Each T cell expresses a unique membrane bound T-c...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章,评审

    doi:

    authors: Whittaker S

    更新日期:1996-03-01 00:00:00

  • Generalized melanosis with malignant melanoma metastasizing to skin--a pathological study with S-100 protein and HMB-45.

    abstract::A patient with primary malignant melanoma localized to the right gluteal region is described. Four years later and after intercurrent influenza, disseminated metastases of malignant melanoma to the skin occurred. After a further 6 months melanodermia developed and lasted until the death of the patient (6 months later)...

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    doi:10.1111/j.1365-2230.1993.tb02250.x

    authors: Péc J,Plank L,Mináriková E,Palencárová E,Rollová Y,Lazárová Z,Auxtová S,Lauko L

    更新日期:1993-09-01 00:00:00

  • Which children should we patch test?

    abstract:BACKGROUND:Allergic contact dermatitis (ACD) in childhood was considered rare until recently. However, reports are increasing, which may reflect an increased incidence and/or more frequent patch testing of children. It is also likely that allergen exposure in children has changed with time. AIMS:To determine the most ...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.2006.02232.x

    authors: Beattie PE,Green C,Lowe G,Lewis-Jones MS

    更新日期:2007-01-01 00:00:00

  • Acquired dermal melanocytosis of the face and extremities.

    abstract::Acquired dermal melanocytosis (ADM) is a relatively rare, but well-described disease among adolescent to middle-aged East Asian women, particularly those of Japanese and Chinese descent. Clinically, ADM manifests as multiple punctate and greyish-brown pigmented areas 1-3 mm in diameter occurring on both sides of the f...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/ced.12867

    authors: Ouchi T,Ishii K,Nishikawa T,Ishiko A

    更新日期:2016-08-01 00:00:00

  • Loceryl nail lacquer--realization of a new galenical approach to onychomycosis therapy.

    abstract::Loceryl nail lacquer was developed to provide the effective antifungal drug, amorolfine, in a once-weekly dosage regimen combined with a convenient mode of application. Traditional formulations such as creams and nail solutions do not fulfil these requirements because they are wiped or washed off very rapidly. Amorolf...

    journal_title:Clinical and experimental dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1992.tb00273.x

    authors: Pittrof F,Gerhards J,Erni W,Klecak G

    更新日期:1992-09-01 00:00:00

  • Androgenic alopecia and insulin resistance: are they really related?

    abstract:BACKGROUND:Androgenic alopecia is known to be androgen-dependent. Insulin is found in hair follicles and may play a role in the regulation of androgen metabolism and the hair-growth cycle. OBJECTIVES:To compare the insulin resistance between people with androgenic alopecia and a control group. METHODS:A case-control ...

    journal_title:Clinical and experimental dermatology

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    doi:10.1111/j.1365-2230.2008.03118.x

    authors: Nabaie L,Kavand S,Robati RM,Sarrafi-Rad N,Kavand S,Shahgholi L,Meshkat-Razavi G

    更新日期:2009-08-01 00:00:00

  • The Laugier-Hunziker syndrome--a clinical review of six cases.

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    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1990.tb02044.x

    authors: Kemmett D,Ellis J,Spencer MJ,Hunter JA

    更新日期:1990-03-01 00:00:00

  • Ultrastructural study of clinically uninvolved skin of patients with pemphigus vulgaris.

    abstract::We investigated skin biopsies from pemphigus vulgaris (PV) patients by light, fluorescent and electron microscopy in order to study the ultrastructural appearances of epidermis at the pre-acantholytic stage. The biopsies were obtained from uninvolved forearm skin in 10 patients with PV in the acute stage of the diseas...

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    pub_type: 杂志文章

    doi:10.1111/j.1365-2230.1991.tb00401.x

    authors: Grando SA,Terman AK,Stupina AS,Glukhenky BT,Romanenko AB

    更新日期:1991-09-01 00:00:00