British Journal of Dermatology

Cover image for Vol. 169 Issue 6

December 2013

Volume 169, Issue 6

Pages i–i, 1173–1374

  1. Editor's Choice

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
    1. You have free access to this content
  2. Editorial

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
  3. Commentaries

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
    1. Burning issues in the diagnosis of xeroderma pigmentosum (page 1176)

      K.H. Kraemer, D. Tamura, S.G. Khan and J.J. DiGiovanna

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12707

  4. Review articles

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
    1. Quantifying cardiovascular disease risk factors in patients with psoriasis: a meta-analysis (pages 1180–1187)

      I.M. Miller, T. Skaaby, C. Ellervik and G.B.E. Jemec

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12490

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      What's already known about this topic?

      • Observational studies suggest an association between psoriasis and cardiovascular diseases and associated risk factors.
      • Previous meta-analyses are based on categorical data.

      What does this study add?

      • Continuous data allow quantification of cardiovascular disease risk factors.
      • Continuous data are necessary to plan optimal management programmes of comorbidity in psoriasis.
    2. Lessons learned from gene expression profiling of cutaneous T-cell lymphoma (pages 1188–1197)

      B.O. Dulmage and L.J. Geskin

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12578

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      What's already known about this topic?

      • Gene expression in cutaneous T-cell lymphoma (CTCL) has been explored in a variety of diverse studies.
      • Not surprisingly, considering the heterogeneous study designs, the results have also been discordant.

      What does this study add?

      • We reconcile the differences in approaches to gene expression profiling and integrate them in a state-of-the-art report.
      • We summarize the most consistently expressed genes across different studies, and bring them together through common biologically relevant pathway analysis.
      • We hypothesize how these commonly found abnormalities may be relevant to disease pathogenesis and provide a springboard for future genetic studies in CTCL.
    3. The interpretation of long-term trials of biologic treatments for psoriasis: trial designs and the choices of statistical analyses affect ability to compare outcomes across trials (pages 1198–1206)

      R.G. Langley and K. Reich

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12583

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      What's already known about this topic?

      • The chronic nature of psoriasis makes long-term efficacy studies particularly valuable for making treatment decisions.

      • Complicated trial designs and inconsistent data handling methods make direct comparisons between trials difficult.

      What does this study add?

      • A thorough explanation of trial types and data handling variations is provided, allowing readers to analyse effectively efficacy data reports.

      • Currently available clinical trial results of biologic psoriasis treatment agents are reviewed and evaluated.

  5. Original articles

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
    1. Clinical and laboratory investigations

      You have free access to this content
      Reticular erythematous mucinosis: a review of patients' characteristics, associated conditions, therapy and outcome in 25 cases (pages 1207–1211)

      F. Rongioletti, V. Merlo, S. Riva, E. Cozzani, E. Cinotti, G. Ghigliotti, A. Parodi and J. Kanitakis

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12577

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      What's already known about this topic?

      • Reticular erythematous mucinosis (REM) is an uncommon disease, the nosology and specific characteristics of which are controversial because most reports deal with single cases or small series.

      What does this study add?

      • We report one of the largest case series of REM to date.
      • We highlight the reticular pattern in REM; the predilection for middle-aged women; the ambiguous role of photosensitivity; the possible association with other conditions such as malignancies and thyroid dysfunctions; and the good response to antimalarials, with possible relapses.
      • Together, these factors make REM a recognizable disease.
    2. Expression of programmed death-1 (CD279) in primary cutaneous B-cell lymphomas with correlation to lymphoma entities and biological behaviour (pages 1212–1218)

      C. Mitteldorf, M. Bieri, N. Wey, K. Kerl, J. Kamarachev, M. Pfaltz, H. Kutzner, G. Roncador, D. Tomasini and W. Kempf

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12579

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      What's already known about this topic?

      • In nodal follicular lymphoma, the number of intratumoral programmed death (PD)-1-positive lymphocytes is associated with overall survival. No data exist for primary cutaneous B-cell lymphoma (PCBCL).

      What does this study add?

      • A higher number of PD-1-expressing cells was found in indolent primary cutaneous marginal zone lymphoma and primary cutaneous follicle centre lymphoma, in contrast to the more aggressive diffuse large B-cell lymphoma, leg type.
      • PD-1-positive cells do not represent only follicular helper T cells.
      • The tumour cells in all investigated types of PCBCL did not show aberrant PD-1 expression.
    3. You have free access to this content
      Reliability of quantification measures of actinic keratosis (pages 1219–1222)

      S.C. Chen, N.D. Hill, E. Veledar, S.M. Swetter and M.A. Weinstock

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12591

      What's already known about this topic?

      • Enumerating actinic keratoses (AKs) is highly variable.
      • Past papers have suggested a reliable method for enumerating AKs on the face.

      What does this study add?

      • This study investigates the reliability of published counting methods for AK of the face and ears.
    4. Systemic involvement of acute generalized exanthematous pustulosis: a retrospective study on 58 patients (pages 1223–1232)

      C. Hotz, L. Valeyrie-Allanore, C. Haddad, S. Bouvresse, N. Ortonne, T.A. Duong, S. Ingen-Housz-Oro, J.C. Roujeau, P. Wolkenstein and O. Chosidow

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12502

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      What's already known about this topic?

      • Internal organ dysfunction is not usually expected in acute generalized exanthematous pustulosis (AGEP).
      • Systemic involvement in AGEP has rarely been reported.

      What does this study add?

      • AGEP systemic involvement does exist.
      • Increased physician awareness and better knowledge of the condition should improve its management.
    5. High-frequency (20–50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions (pages 1233–1239)

      M. Guérin-Moreau, G. Leftheriotis, Y. Le Corre, M. Etienne, R. Amode, J.F. Hamel, A. Croué, O. Le Saux, L. Machet and L. Martin

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12545

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      What's already known about this topic?

      • Typical pseudoxanthoma elasticum (PXE) skin changes are yellowish papules and are associated with unique elastic fibre fragmentation and calcification on skin biopsy.
      • High-frequency ultrasonography (HFUS) features of cutaneous PXE have not been reported previously.

      What does this study add?

      • Noninvasive HFUS examination of the skin of patients with PXE revealed unique echostructure characteristics with oval homogeneous hypoechogenic areas in the mid-dermis.
      • These features may be useful for diagnosis of PXE in ambiguous cases and may aid the choice of skin site for biopsy in patients with subtle or no clinical changes.
      • The hypoechogenic areas were consistent with the presence of localized hydration due to deposits of glycosaminoglycans.
    6. Favourable prognostic role of regression of primary melanoma in AJCC stage I–II patients (pages 1240–1245)

      S. Ribero, S. Osella-Abate, M. Sanlorenzo, P. Savoia, C. Astrua, G. Cavaliere, C. Tomasini, R. Senetta, G. Macripò, M.G. Bernengo and P. Quaglino

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12586

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      What's already known about this topic?

      • Regression has been considered a negative prognostic factor, as it may prevent proper melanoma thickness measurement.
      • There is no consensus regarding the need for sentinel lymph node biopsy (SLNB) when regression is present within the primary tumour.

      What does this study add?

      • Regression alone should not be a reason to perform SLNB in thin melanoma.
      • Regression can be considered a favourable prognostic factor for overall survival and disease-free survival in patients with AJCC stage I–II melanoma.
    7. Dermatological surgery and lasers

      Q-switched laser depigmentation in vitiligo, most effective in active disease (pages 1246–1251)

      L. Komen, L. Zwertbroek, S.J. Burger, J.P.W. van der Veen, M.A. de Rie and A. Wolkerstorfer

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12571

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      What's already known about this topic?

      • Small studies and case reports with a limited follow-up indicate that Q-switched lasers are an effective and safe depigmentation therapy in patients with widespread vitiligo.

      What does this study add?

      • The results of our study suggest that depigmentation treatment with the Q-switched ruby laser in patients with vitiligo is effective in approximately half of those treated.
      • Our study is the first to show that patients with active vitiligo have significantly better results than patients with stable disease.
    8. Paediatric dermatology

      You have free access to this content
      Factors associated with the relapse of infantile haemangiomas in children treated with oral propranolol (pages 1252–1256)

      C.K. Ahogo, K. Ezzedine, S. Prey, V. Colona, A. Diallo, F. Boralevi, A. Taïeb and C. Léauté-Labrèze

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12432

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      What's already known about this topic?

      • Until now, no study has investigated factors associated with treatment cessation in children receiving oral propranolol for infantile haemangioma.

      What does this study add?

      • Segmental haemangiomas and haemangiomas with a deep component are at risk of relapsing after propranolol cessation and should thus be carefully followed up.
    9. Lower risk of atopic dermatitis among infants born extremely preterm compared with higher gestational age (pages 1257–1264)

      S. Barbarot, C. Gras-Leguen, H. Colas, E. Garrot, D. Darmaun, B. Larroque, J.C. Roze and P.Y. Ancel

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12581

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      What's already known about this topic?

      • Events occurring in the earliest stages of development can predispose a child to atopic diseases.
      • The influence of very low gestational age (GA) on the risk of atopic dermatitis (AD) has not been assessed in a large sample of extremely preterm infants (< 29 weeks’ gestation).

      What does this study add?

      • Very low GA (< 29 weeks) was associated with a lower risk of AD compared with higher GA (29–34 weeks) and full-term birth.
    10. Short- and long-term outcome of linear morphoea in children (pages 1265–1271)

      M. Piram, C.C. McCuaig, C. Saint-Cyr, D. Marcoux, A. Hatami, E. Haddad and J. Powell

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12606

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      What's already known about this topic?

      • Little is known about the long-term outcome of patients suffering from linear morphoea.

      What does this study add?

      • One-third of patients had a disease duration ≥ 10 years, with long stretches of disease quiescence followed by reactivation; thus prolonged monitoring is required.
      • Nearly all patients had residual damage.
      Corrected by:

      Corrigenda: Corrigenda

      Vol. 170, Issue 4, 999, Version of Record online: 15 APR 2014

    11. Photobiology

      Lifestyle factors including less cutaneous sun exposure contribute to starkly lower vitamin D levels in U.K. South Asians compared with the white population (pages 1272–1278)

      R. Kift, J.L. Berry, A. Vail, M.T. Durkin, L.E. Rhodes and A.R. Webb

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12518

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      What's already known about this topic?

      • South Asians in the U.K. have much lower vitamin D levels than the white population.

      What does this study add?

      • Behavioural factors significantly contribute to lower vitamin D status, with lower ultraviolet exposure, dietary intake and supplement use contributing.
      • The behavioural data suggest more targeted health messages are needed to address the vitamin D status of the U.K. South Asian population.
    12. Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions (pages 1279–1287)

      M. Sethi, A.R. Lehmann, H. Fawcett, M. Stefanini, N. Jaspers, K. Mullard, S. Turner, A. Robson, D. McGibbon, R. Sarkany and H. Fassihi

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12523

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      What's already known about this topic?

      • Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair.
      • It is characterized by pigmentary skin changes, significantly increased risk of skin cancer, and progressive neurological disease in about 25% of cases.
      • It is subdivided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V).
      • Severe and prolonged sunburn reactions on minimal sun exposure have previously been considered a cardinal feature of classical XP.
      • Recent data from a cohort of patients with XP at the National Institutes of Health in the U.S.A. have shown that about a third of their patients with XP have never sunburned.

      What does this study add?

      • Not all patients with classical XP have severe and prolonged sunburn reactions.
      • There is a correlation between response to sun exposure and XP complementation group.
      • Patients with XP-C, XP-E and XP-V have sunburn reactions normal for skin-type compared with unaffected controls.
      • Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn. This has important diagnostic and prognostic implications.
    13. T regulatory cells and related immunoregulatory factors in polymorphic light eruption following ultraviolet A1 challenge (pages 1288–1294)

      T. Gambichler, S. Terras, P. Kampilafkos, A. Kreuter and M. Skrygan

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12608

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      What's already known about this topic?

      • Polymorphic light eruption (PLE) is considered an autoimmune-mediated skin condition in which the normal ultraviolet (UV)-induced local immunosuppression seems to be absent, leading to recognition of photoinduced autoantigens and resultant inflammation.

      What does this study add?

      • We have shown that UVA1-challenged PLE lesions display an altered immunoregulatory network.
      • This is indicated by a relatively low number of T regulatory cells and decreased epidermal or dermal expression of transforming growth factor-β1, interleukin-10 and receptor activator of nuclear factor-κB ligand.
    14. Therapeutics

      The safety profile of ustekinumab in the treatment of patients with psoriasis and concurrent hepatitis B or C (pages 1295–1303)

      H.-Y. Chiu, C.-H. Chen, M.-S. Wu, Y.-P. Cheng and T.-F. Tsai

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12461

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      What's already known about this topic?

      • Interleukin (IL)-12 plays a central role in mounting an immune response directed towards the elimination of pathogens.
      • Ustekinumab, an IL-12/23 blocker may theoretically carry the risk of hepatitis B (HBV) and hepatitis C virus (HCV) reactivation with its use.

      What does this study add?

      • Ustekinumab appears to be well tolerated in patients with concurrent psoriasis and HBV infection under antiviral prophylaxis.
      • The risk of HCV reactivation during ustekinumab treatment does exist and appropriate vigilance should be exercised, especially in specific high-risk patient groups.
    15. The role of intravenous immunoglobulin in toxic epidermal necrolysis: a retrospective analysis of 64 patients managed in a specialized centre (pages 1304–1309)

      H.Y. Lee, Y.L. Lim, T. Thirumoorthy and S.M. Pang

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12607

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      What's already known about this topic?

      • The use of intravenous immunoglobulin (IVIg) in the treatment of toxic epidermal necrolysis (TEN) is controversial.

      What does this study add?

      • This study shows that the use of IVIg in the treatment of Stevens–Johnson syndrome/TEN overlap and TEN does not yield survival benefits, even when corrected for IVIg dosages and prior exposure to corticosteroids.
    16. Concise communications

      Systemic retinoids for the chemoprevention of cutaneous squamous cell carcinoma and verrucal keratosis in a cohort of patients on BRAF inhibitors (pages 1310–1313)

      R. Anforth, T.C.M.P. Blumetti, A. Clements, R. Kefford, G.V. Long and P. Fernandez-Peñas

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12519

      What's already known about the topic?

      • The BRAF inhibitors vemurafenib and dabrafenib trigger the development of verrucal keratosis (VK) and cutaneous squamous cell carcinomas (cuSCC), requiring multiple surgical interventions and, in some cases, dose reduction.

      What does this study add?

      • Acitretin may be a useful agent in the prevention of VK and cuSCC in patients on BRAF inhibitors.
      • Acitretin may help avoid dose reduction due to the development of VK and cuSCC in patients on BRAF inhibitors.
      • The patient's quality of life is improved as the number of surgical procedures required is reduced.
    17. You have free access to this content
      First left–right comparative study of topical rapamycin vs. vehicle for facial angiofibromas in patients with tuberous sclerosis complex (pages 1314–1318)

      M. Tanaka, M. Wataya-Kaneda, A. Nakamura, S. Matsumoto and I. Katayama

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12567

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      What's already known about this topic?

      • Case studies indicate that 0·1–1% rapamycin ointment, 1% cream and 0·1% solution are effective against angiofibromas in tuberous sclerosis complex (TSC).
      • The 0·1% solution causes skin irritation.

      What does this study add?

      • This left–right comparative study confirmed that rapamycin 0·2% ointment and gel are effective in TSC compared with vehicle.
      • In vitro percutaneous absorption is significantly better with the gel than the ointment.
      • Significantly greater effects are observed in younger children.
    18. Is universal screening for hepatitis C infection prior to commencing antitumour necrosis factor-α therapy necessary? (pages 1319–1321)

      C.T. Reid, C. De Gascun, W. Hall, P. Collins, A. Lally and B. Kirby

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12598

      What's already known about this topic?

      • Screening for hepatitis C virus (HCV) prior to commencing antitumour necrosis factor (anti-TNF)-α therapy is based on a theoretical concern of exposing patients with HCV to immunosuppressant therapy.
      • HCV is of low prevalence in the U.K. and Ireland.
      • Recent reviews suggest that anti-TNF-α therapy is safe and effective in patients with psoriasis and concomitant HCV.

      What does this study add?

      • HCV prevalence is low among patients undergoing pretreatment anti-TNF-α screening in our dermatology department, which is located in a low-prevalence area for HCV.
      • Universal screening for HCV prior to commencing anti-TNF-α therapy does not satisfy criteria for an effective screening programme.
      • We propose that targeted screening rather than universal screening may be a safe and cost-effective option among people being evaluated for anti-TNF-α therapy.
    19. Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B (pages 1322–1325)

      A. Mallet, M. Kypriotou, K. George, E. Leclerc, D. Rivero, J. Mazereeuw-Hautier, G. Serre, M. Huber, N. Jonca and D. Hohl

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12593

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      What's already known about this topic?

      • Peeling skin disease (PSD) is a generalized inflammatory genodermatosis.
      • PSD is caused by autosomal recessive nonsense mutations in the human corneodesmosin gene (CDSN), which lead to total corneodesmosin deficiency.

      What does this study add?

      • This study reveals a new nonsense mutation in the human CDSN gene, which leads to a truncated form of corneodesmosin and is responsible for PSD.
    20. You have full text access to this OnlineOpen article
      Translating Patient-Oriented Eczema Measure (POEM) scores into clinical practice by suggesting severity strata derived using anchor-based methods (pages 1326–1332)

      C.R. Charman, A.J. Venn, J.C. Ravenscroft and H.C. Williams

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12590

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      What's already known about this topic?

      • The POEM is a validated, reliable and simple tool for measuring atopic eczema severity in adults and children.
      • POEM scores can range from 0 to 28, and have shown longitudinal sensitivity to change in the outpatient clinic and in clinical trials.

      What does this study add?

      • Using global patient-assessed anchor questions, POEM scores were categorized into five severity bands to improve interpretation in clinical practice and research. POEM scores of 0–2 = clear/almost clear, 3–7 = mild, 8–16 = moderate, 17–24 = severe, and 25–28 = very severe atopic eczema.
    21. Q10-triggered facial vitiligo (pages 1333–1336)

      K.U. Schallreuter

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12587

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      What's already known about this topic?

      • Reactive oxygen and nitrative species (ROS/RNS) can trigger vitiligo.

      What does this study add?

      • Topical application of Q10-containing creams can trigger facial vitiligo in susceptible individuals. Reduction of Q10-mediated reactive oxygen species by activated propseudocatalase PC-KUS leads to cessation of depigmentation and repigmentation.
    22. Early clinical response as a predictor of subsequent response to ixekizumab treatment: results from a phase II study of patients with moderate-to-severe plaque psoriasis (pages 1337–1341)

      B. Zhu, E. Edson-Heredia, G.S. Cameron, W. Shen, J. Erickson, D. Shrom, P. Wang, S. Banerjee and K.B. Gordon

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12610

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      What's already known about this topic?

      • There are no established biomarkers or other measures for reliably predicting response to psoriasis therapy.

      What does this study add?

      • This study sets a framework for identification of a measure, early treatment response, that is reliably predictive of longer-term treatment response with a novel therapeutic agent, ixekizumab, for psoriasis. Once confirmed in larger studies, this may have important implications for ixekizumab use in clinical practice.
  6. Case reports

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
    1. Molecular evidence of type 2 mosaicism in Gorlin syndrome (pages 1342–1345)

      A. Torrelo, A. Hernández-Martín, E. Bueno, I. Colmenero, I. Rivera, L. Requena, R. Happle and R. González-Sarmiento

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12458

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      What's already known about this topic?

      • Gorlin syndrome may rarely occur in a segmental mosaic state.

      What does this study add?

      • We present a patient with Gorlin syndrome and a superimposed, more severely affected mosaic area of her skin with Gorlin syndrome.
      • Molecular evidence of both germline and mosaic mutations in PTCH1 is provided.
    2. Two cases of clear cell sarcoma with different clinical and genetic features: cutaneous type with BRAF mutation and subcutaneous type with KIT mutation (pages 1346–1352)

      B.M. Park, S.A. Jin, Y.D. Choi, S.H. Shin, S.T. Jung, J.B. Lee, S.C. Lee and S.J. Yun

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12480

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      What's already known about this topic?

      • Clear cell sarcoma (CCS) is a rare malignancy with melanocytic differentiation.
      • Cytogenetic studies can be helpful in diagnosis due to the characteristic reciprocal chromosome rearrangement (12;22)(q13;q12).
      • BRAF and KIT mutations are well-known melanocytic tumorigenesis-associated mutations frequently found in cutaneous melanoma, but are normally rare or absent in CCS.

      What does this study add?

      • We detected a BRAF mutation in the dermal type and a KIT mutation in the subcutaneous type of CCS.
      • The absence of these genes can no longer be considered diagnostic evidence of CCS.
      • Mutation inhibitors may be useful in selected patients with mutated clear cell sarcoma.
    3. A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome (pages 1353–1356)

      M. Barzegar, N. Mozafari, A. Kariminejad, Z. Asadikani, L. Ozoemena and J.A. McGrath

      Version of Record online: 2 DEC 2013 | DOI: 10.1111/bjd.12522

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      What's already known about this topic?

      • Laryngo-onycho-cutaneous (LOC) syndrome is a subtype of autosomal recessive junctional epidermolysis bullosa in which there is prominent skin and mucosal granulation tissue that can lead to delayed wound healing, laryngeal obstruction and blindness.
      • Thus far, all cases are of Punjabi ancestry and have been shown to result from a founder mutation in the LAMA3 gene, notably involving a single nucleotide insertion mutation in exon 39, which is specific to the LAMA3A (designated exon 1 of LAMA3A) and not the LAMA3B1 or LAMA3B2 isoforms.

      What does this study add?

      • We describe a new pedigree with LOC syndrome. Affected individuals (from Iran) have the characteristic clinicopathological and molecular features of LOC syndrome: prominent granulation tissue (especially affecting the eyes), normal intensity laminin-332 immunostaining at the dermal–epidermal junction, and autosomal recessive mutations in the LAMA3A-specific exon.
      • The pathogenic mutation is a homozygous nonsense mutation, designated p.Gln57X, that just affects the laminin-α3a transcript.
      • These findings expand the molecular basis of LOC syndrome.
  7. Correspondence

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices
    1. You have full text access to this OnlineOpen article
  8. News and Notices

    1. Top of page
    2. Editor's Choice
    3. Editorial
    4. Commentaries
    5. Review articles
    6. Original articles
    7. Case reports
    8. Correspondence
    9. News and Notices

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