Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Abstract:

BACKGROUND:Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS:Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS:Exome sequencing identified seven homozygous sequence variants in different families, including: c.27delT in FERMT1; c.836delA in ABHD5; c.2453C>T in ERCC5; c.5314C>T in COL7A1; c.1630C>T in ALOXE3; c.502C>T in PPOX; and c.10G>T in ALDH3A2. Sanger sequencing revealed three homozygous variants: c.1718 + 2A>G in FERMT1; c.10459A>T in FLG; and c.92delT in the KRT14 genes as the underlying genetic cause of skin phenotypes. CONCLUSION:This study supports the use of exome sequencing as a powerful, efficient tool for identifying genes that underlie rare monogenic skin disorders.

journal_name

Int J Dermatol

authors

Shah K,Mehmood S,Jan A,Abbe I,Hussain Ali R,Khan A,Chishti MS,Lee K,Ahmad F,Ansar M,University of Washington Center for Mendelian Genomics.,Shahzad S,Nickerson DA,Bamshad MJ,Coucke PJ,Santos-Cortez RLP,Spritz RA,Leal SM

doi

10.1111/ijd.13778

subject

Has Abstract

pub_date

2017-12-01 00:00:00

pages

1406-1413

issue

12

eissn

0011-9059

issn

1365-4632

journal_volume

56

pub_type

杂志文章
  • Risks for noncutaneous second primary malignancy in cutaneous malignant melanoma survivors: an analysis of data from the Surveillance, Epidemiology, and End Results (SEER) program.

    abstract:BACKGROUND:It is known that malignant melanoma (MM) survivors are at increased risk of future primary MM. However, the risk for noncutaneous second primary malignancies (SPMs) is not as well-understood. METHODS:An observational study utilizing data from the Surveillance, Epidemiology, and End Results (SEER) database w...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/ijd.14781

    authors: Vakharia PP,Kelm RC,Orrell KA,Patel KR,Singam V,Ali Y,Rastogi S,Yousif R,Rangel SM,West DP,Nardone B

    更新日期:2020-04-01 00:00:00

  • Teledermatology on the Faroe Islands.

    abstract::The use of teledermatology as an adjunct to conventional clinical dermatology on the Faroe Islands is described. The service is based on a nurse-led dermatological clinic, and teledermatology is combined with specialist visits for more complex diagnosis or procedures. ...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2008.03718.x

    authors: Jemec GB,Heidenheim M,Dam TN,Vang E

    更新日期:2008-09-01 00:00:00

  • Giant molluscum contagiosum in AIDS.

    abstract::A 31-year-old man, an intravenous drug user and in an advanced stage of acquired immune deficiency syndrome (AIDS), was admitted in our Department for the treatment of skin lesions that had been diagnosed as molluscum contagiosum (MC). The clinical examination revealed the presence of multiple nodular lesions, some of...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4362.1996.tb01616.x

    authors: Vozmediano JM,Manrique A,Petraglia S,Romero MA,Nieto I

    更新日期:1996-01-01 00:00:00

  • Oral photochemotherapy in vitiligo: follow-up, patient compliance.

    abstract:BACKGROUND:Vitiligo is a common, acquired condition of unknown etiology. The only practical treatment for patients with vitiligo is psoralen ultraviolet A (PUVA). No satisfactory method is available to measure the influence of certain factors on the therapeutic response. METHODS:Twenty-nine patients with generalized v...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4362.1995.tb01571.x

    authors: al-Aboosi MM,Ajam ZA

    更新日期:1995-03-01 00:00:00

  • Milia in regressing plaques of mycosis fungoides: provoked by topical nitrogen mustard or not?

    abstract:OBJECTIVE:To report three cases of mycosis fungoides with milia formation in the regressing lesions. PATIENTS AND SETTING:Dermatology clinic of a university hospital (referral center). Three patients with mycosis fungoides with body surface involvement of 10% in one case (stage IIb) and exceeding 30% in two cases (sta...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2004.01944.x

    authors: Kalayciyan A,Oguz O,Demirkesen C,Serdaroglu S,Kotogyan A

    更新日期:2004-12-01 00:00:00

  • Suicidal ideation in psoriasis.

    abstract:BACKGROUND:Psoriasis has been associated with depressive disease and case reports of completed suicide. METHODS:217 consenting psoriasis patients completed the Carroll Rating Scale for Depression (CRSD), a 52-item self-rated scale, with four of the items directly addressing wishes to be dead and suicidal ideation. The...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4362.1993.tb02790.x

    authors: Gupta MA,Schork NJ,Gupta AK,Kirkby S,Ellis CN

    更新日期:1993-03-01 00:00:00

  • Activation of melanoblasts and melanocytes after treatment with monochromatic excimer light and narrowband-ultraviolet B of skin of vitiligo patients.

    abstract:BACKGROUND:Vitiligo is a hypopigmentation disease characterized by achromatic or hypochromatic macules in several sites of human skin. Although monochromatic excimer light (MEL) and narrowband-ultraviolet B (NB-UVB) have recently been used for efficacious treatment of vitiligo, the repigmentation process and role of me...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/ijd.14216

    authors: Hirobe T,Enami H

    更新日期:2019-02-01 00:00:00

  • alpha1-Antitrypsin deficiency presenting with panniculitis and incidental discovery of chronic obstructive pulmonary disease.

    abstract::A 60-year-old man presented to the Emergency Department (ED) with large, painful, indurated plaques on the right thigh, left abdomen, left chest, and right chest, which began without any preceding trauma on the right thigh 3 weeks prior to presentation in the ED. He was initially treated with cefazolin 1 g three times...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2006.03067.x

    authors: Korver G,Liu C,Petersen M

    更新日期:2007-10-01 00:00:00

  • Erythema nodosum leprosum in Nigeria.

    abstract::The occurrence of erythema nodosum leprosum among leprosy patients treated with diamino diphenyl sulfone in an endemic area is not rare, unlike in the leprosy patients treated at Lagos University Teaching Hospital. Two Nigerian patients with this disease are described, in whom this rarity was seen. Recurrent monthly f...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4362.1975.tb00160.x

    authors: Somorin AO

    更新日期:1975-11-01 00:00:00

  • Adapalene vs. metronidazole gel for the treatment of rosacea.

    abstract:BACKGROUND:Rosacea is a common, chronic dermatosis that requires long-term therapy. Oral isotretinoin and topical and/or oral antibiotics are effective, but their usage may be limited due to side-effects. OBJECTIVE:The goal of the study was to compare the efficacy of topical adapalene gel (0.1%) and topical metronidaz...

    journal_title:International journal of dermatology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-4632.2004.02130.x

    authors: Altinyazar HC,Koca R,Tekin NS,Eştürk E

    更新日期:2005-03-01 00:00:00

  • New treatment of atrophic acne scars by iontophoresis with estriol and tretinoin.

    abstract:BACKGROUND:Common treatment of atrophic acne scars consists of invasive methods such as dermabrasion, chemopeeling, or implantation of bovine collagen. In our study a new noninvasive treatment method consisting of local iontophoresis is demonstrated. Local iontophoresis was performed with either estriol--a mainly topic...

    journal_title:International journal of dermatology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1365-4362.1995.tb04381.x

    authors: Schmidt JB,Binder M,Macheiner W,Bieglmayer C

    更新日期:1995-01-01 00:00:00

  • Onychomycosis in Hong Kong.

    abstract:BACKGROUND:Onychomycosis in temperate countries has been studied extensively, but few data are available on its epidemiology in tropical countries. We performed a survey of patients seen in Hong Kong for the 8-year period from January 1987 to December 1994. METHODS:A retrospective study of the mycology laboratory reco...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-4362.1997.00048.x

    authors: Kam KM,Au WF,Wong PY,Cheung MM

    更新日期:1997-10-01 00:00:00

  • Long-term follow-up and management of small and medium-sized CD4+ T cell lymphoma and CD8+ lymphoid proliferations of acral sites: a multicenter experience.

    abstract:BACKGROUND:Primary cutaneous CD4+ small-medium pleomorphic T cell lymphoma (SMPTCL) is a low-grade cutaneous T cell lymphoma. Its clinical and histopathologic features are comparable with those of CD8+ lymphoid proliferations (LPs) of the ear and acral sites. OBJECTIVES:We performed a retrospective analysis of patient...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/ijd.13340

    authors: Virmani P,Jawed S,Myskowski PL,Horwitz S,Skripnik Lucas A,Moskowitz A,Pulitzer M,Zain J,Rosen ST,Querfeld C

    更新日期:2016-11-01 00:00:00

  • Prevalence of different skin conditions in an outpatients' setting in north-western Nigeria.

    abstract:BACKGROUND:Information on skin diseases in north-western Nigeria is scanty. We therefore conducted a prospective survey of 2611 new patients seen between August 1999 and July 2001 at the consultant medical/dermatology clinics of Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria. METHODS:The personal bio-d...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2004.02298.x

    authors: Onayemi O,Isezuo SA,Njoku CH

    更新日期:2005-01-01 00:00:00

  • Bullous pemphigoid. Occurrence in a patient with mycosis fungoides receiving PUVA and topical nitrogen mustard therapy.

    abstract::A 57-year-old woman with mycosis fungoides developed blisters within cutaneous plaques while receiving PUVA therapy and topical nitrogen mustard. Direct and indirect immunofluorescence studies showed the findings of bullous pemphigoid. Her bullous disease was controlled after cessation of these therapies and instituti...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4362.1985.tb05751.x

    authors: Patterson JW,Ali M,Murray JC,Hazra TA

    更新日期:1985-04-01 00:00:00

  • Variety of complications after auricle piercing.

    abstract:BACKGROUND:Body piercing is a known and popular method of body ornamentation. Modern body piercing includes wearing jewelry in such body areas as the helix (ear), eyebrows, nose, lips, tongue, chin, nipples, navel, and genitals. The current piercing definition does not comprise piercing of the earlobe; however, this bo...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/ijd.12115

    authors: Fijałkowska M,Kasielska A,Antoszewski B

    更新日期:2014-08-01 00:00:00

  • The "collerette" technique for skin excision and biopsy: an efficient method for managing lentigo maligna of the head and neck.

    abstract:BACKGROUND:Melanoma is responsible for 75% of all skin cancer-related deaths. Lentigo maligna (LM), the most prevalent melanoma in situ (MIS), accounts for 79-83% of all MIS. Its location in the head and neck area requires that tissue be spared in the course of clearing the tumor. METHODS:We conducted a therapeutic st...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/ijd.12430

    authors: Kassi K,Vanwijck R,Kanga JM

    更新日期:2014-07-01 00:00:00

  • Reduced erythrocyte deformability in active and untreated Behçet's disease patients.

    abstract:OBJECTIVE:Although the etiology of Behcet's disease is not clarified yet, the vascular endothelial damage and thrombosis are prominent features of the disease. The underlying mechanisms of increased risk of thrombosis in Behcet's disease are not completely understood. It is stated that the changes in blood rheology suc...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2009.04229.x

    authors: Tatlican S,Duran FS,Eren C,Eskioglu F,Dikmenoglu N,Oktay B,Durmazlar SP,Canpolat F

    更新日期:2010-02-01 00:00:00

  • Senile erythroderma with serum hyper IgE.

    abstract::Eight patients with senile erythroderma with serum hyper IgE were studied. Characteristic laboratory findings were persistently elevated IgE levels, high peripheral-blood eosinophils, and high lactic dehydrogenase (LDH). Immunologic analysis using immunoglobulin antibodies showed frozen sections of inguinal lymph node...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4362.1989.tb04815.x

    authors: Asai T,Horiuchi Y

    更新日期:1989-05-01 00:00:00

  • A comparison of neuropeptide expression in skin with allergic contact dermatitis in human and mouse.

    abstract:BACKGROUND:Allergic contact dermatitis (ACD) is a manifestation of a cell-mediated immune response, but its mechanism remains unknown. Recently, we investigated whether ACD involves various neuropeptides. Substance P (SP) is a neuropeptide that is known to act as a neurokinin receptor when the immune response is initia...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2011.05197.x

    authors: Lim YY,Kim HM,Lee HI,Mun SK,Kim CW,Kim MN,Kim BJ

    更新日期:2012-08-01 00:00:00

  • Skin cancer prevention campaign aimed at beachgoers on the Costa del Sol (southern Spain).

    abstract:BACKGROUND:Sunbathing on the beach is one of the main risks for skin cancer. OBJECTIVE:In the summer of 2010, a skin cancer prevention campaign aimed at beachgoers was undertaken on the western Costa del Sol (southern Spain). METHODS:The campaign took place on beaches during July and August. A multicomponent interven...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/ijd.12389

    authors: de Troya-Martín M,Delgado-Sánchez N,Blázquez-Sánchez N,Ortega-Tudela G,Toribio-Montero JC,Jabalera-Mesa ML,Ríos-Almellones I,Rivas-Ruiz F

    更新日期:2014-11-01 00:00:00

  • Are infantile seborrheic and atopic dermatitis clinical variants of the same disease?

    abstract:BACKGROUND:The relationship between infantile seborrheic dermatitis (ISD) and infantile atopic dermatitis (IAD) is controversial. METHODS:Ninety-six children aged 2-12 months diagnosed with atopic dermatitis and a comparable control group of healthy children were evaluated. Demographic data, personal history of ISD an...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-4362.2002.01497.x

    authors: Moises-Alfaro CB,Caceres-Rios HW,Rueda M,Velazquez-Acosta A,Ruiz-Maldonado R

    更新日期:2002-06-01 00:00:00

  • Review of fexofenadine in the treatment of chronic idiopathic urticaria.

    abstract::Chronic idiopathic urticaria (CIU), characterized by the appearance of itchy wheals of unknown etiology, can be extremely debilitating and can significantly reduce a patient's quality of life (QOL). Fexofenadine, a non-sedating, H1-receptor selective, long-acting antihistamine, is licensed worldwide for the treatment ...

    journal_title:International journal of dermatology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-4362.2002.01599.x

    authors: Kawashima M,Harada S,Tango T

    更新日期:2002-10-01 00:00:00

  • Presence of Leishmania organisms in specific and non-specific skin lesions in HIV-infected individuals with visceral leishmaniasis.

    abstract:BACKGROUND:Leishmania coinfection is frequently seen in human immunodeficiency virus (HIV)-infected patients in endemic areas, and from time to time the protozoan is detected in cutaneous biopsies. OBJECTIVE:To establish the characteristics and possible ethiologic role of the presence of Leishmania in these lesions. ...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-4362.2002.01610.x

    authors: Bosch RJ,Rodrigo AB,Sánchez P,de Gálvez MV,Herrera E

    更新日期:2002-10-01 00:00:00

  • Dermatologic sequelae of breast cancer: From disease, surgery, and radiation.

    abstract::The care of breast cancer patients is important to dermatologists. Breast cancer's initial presentation, clinical progression, and its associated treatments can result in a variety of cutaneous complications. Dermatologists may be the first to identify a breast cancer diagnosis, as a subset of patients first present w...

    journal_title:International journal of dermatology

    pub_type: 杂志文章,评审

    doi:10.1111/ijd.15303

    authors: Milam EC,Rangel LK,Pomeranz MK

    更新日期:2020-11-23 00:00:00

  • Value of routine diagnostic criteria of bullous pemphigoid.

    abstract:BACKGROUND AND DESIGN:The clinical, histologic, and direct (DIF) and indirect (IIF) immunofluorescence findings are used in a critical, although arbitrary, manner in the routine diagnostic process of bullous pemphigoid (BP). Our purpose was to estimate their relative value. In the present retrospective study, a follow-...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-4362.1998.00271.x

    authors: Chaidemenos GC,Maltezos E,Chrysomallis F,Kouskoukis K,Kapetis E,Mourellou O,Gotsis N

    更新日期:1998-03-01 00:00:00

  • Hereditary benign telangiectasia: first case in Iran.

    abstract::A 14-year-old boy was referred to the Dermatology Clinic of the Medical University of Mashhad, Iran, with numerous cutaneous telangiectasias on the face, ears, lips, and back of the hands, with lesions in the temporal region being the first to appear (Figs 1-3). His mother stated that the lesions had been present for ...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2006.02775.x

    authors: Javidi Z,Maleki M,Mashayekhi V,Nahidi Y,Omidvar Borna A

    更新日期:2006-07-01 00:00:00

  • PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas.

    abstract:BACKGROUND:Basal cell carcinomas (BCCs) are the most frequent human cancer that results from malignant transformation of basal cells in the epidermis. Gorlin syndrome is a rare inherited autosomal dominant disease that predisposes with multiple BCCs and other birth defects. Both sporadic and inherited BCCs are associat...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2010.04866.x

    authors: Santos DC,Zaphiropoulos PG,Neto CF,Pimentel ER,Sanches JA Jr,Ruiz IR

    更新日期:2011-07-01 00:00:00

  • The prevalence of pediculosis capitis in schoolchildren in Mersin, Turkey.

    abstract:BACKGROUND:Pediculosis capitis is an endemic parasitosis affecting many countries of the world. The aim of this study was to investigate the incidence of head lice infestation in Mersin, Turkey. METHODS:A total of 5318 elementary schoolchildren, aged 8-16 years, were examined for the presence of Pediculus capitis. If ...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1046/j.1365-4362.2003.01836.x

    authors: Kokturk A,Baz K,Bugdayci R,Sasmaz T,Tursen U,Kaya TI,Ikizoglu G

    更新日期:2003-09-01 00:00:00

  • Antisense oligonucleotide targeting fibroblast growth factor receptor (FGFR)-1 stimulates cellular activity of hair follicles in an in vitro organ culture system.

    abstract:BACKGROUND:The hair cycle is regulated by various molecules, among which FGF-5 has been shown to promote the transition from anagen to catagen. The FGFR-1, a trans-membrane receptor of FGF-5 with tyrosine kinase activity, is localized in the follicular papilla of hair follicles. OBJECTIVES:In order to apply the antise...

    journal_title:International journal of dermatology

    pub_type: 杂志文章

    doi:10.1111/j.1365-4632.2007.03018.x

    authors: Tsuboi R,Yamazaki M,Matsuda Y,Uchida K,Ueki R,Ogawa H

    更新日期:2007-03-01 00:00:00