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  1. Book ; Online ; E-Book: Mosaicism in human skin

    Happle, Rudolf / Torrelo, Antonio

    understanding nevi, nevoid skin disorders, and cutaneous neoplasia

    2023  

    Abstract: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing ... ...

    Author's details Rudolf Happle, Antonio Torrelo
    Abstract This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes.^

    The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling.^
    Keywords Dermatology ; Pediatrics ; Medical genetics ; Neurology ; Ophthalmology ; Skin Neoplasms ; Skin Diseases ; Nevus ; Mosaicism
    Language English
    Size 1 Online-Ressource (xiii, 243 Seiten), Illustrationen
    Edition Second edition
    Publisher Springer
    Publishing place Cham
    Publishing country Switzerland
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT021687839
    ISBN 978-3-030-89937-0 ; 9783030899363 ; 3-030-89937-3 ; 3030899365
    DOI 10.1007/978-3-030-89937-0
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book: Atopic dermatitis - a therapeutic challenge around the world

    Torrelo, Antonio / Daudén, Esteban

    (Journal of the European Academy of Dermatology and Vneereology ; 28, Suppl. 3)

    2014  

    Author's details guest ed.: Antonio Torrelo
    Series title Journal of the European Academy of Dermatology and Vneereology ; 28, Suppl. 3
    Journal of the European Academy of Dermatology and Venereology
    Collection Journal of the European Academy of Dermatology and Venereology
    Language English
    Size 15 S. : Ill., graph. Darst.
    Publisher Wiley-Blackwell
    Publishing place Oxford
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT018285235
    Database Catalogue ZB MED Medicine, Health

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    Zs A 3492 -28,Suppl.3- not available for loan Zeitschriften-Lesesaal

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  3. Article ; Online: Pediatric Neutrophilic Dermatoses.

    Moreno-Artero, Ester / Torrelo, Antonio

    Dermatologic clinics

    2024  Volume 42, Issue 2, Page(s) 267–283

    Abstract: The term neutrophilic dermatosis encompasses a heterogeneous group of diseases, often associated with an underlying internal noninfectious disease, with an overlapping histopathologic background characterized by perivascular and diffuse neutrophilic ... ...

    Abstract The term neutrophilic dermatosis encompasses a heterogeneous group of diseases, often associated with an underlying internal noninfectious disease, with an overlapping histopathologic background characterized by perivascular and diffuse neutrophilic infiltrates in one or more layers of the skin; extracutaneous neutrophilic infiltrates may be associated. Neutrophilic dermatoses are not frequent in children and, when they appear in this age group, represent a diagnostic and therapeutic challenge. Apart from the classic neutrophilic dermatoses such as pyoderma gangrenosum, Sweet syndrome, and Behçet disease, a neutrophilic dermatosis can be the presentation of rare genetic diseases of the innate immune system, such as autoinflammatory diseases.
    MeSH term(s) Humans ; Child ; Dermatitis ; Pyoderma Gangrenosum/diagnosis ; Pyoderma Gangrenosum/drug therapy ; Pyoderma Gangrenosum/pathology ; Skin/pathology ; Sweet Syndrome/diagnosis ; Neutrophils/pathology
    Language English
    Publishing date 2024-01-20
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 82798-8
    ISSN 1558-0520 ; 0733-8635
    ISSN (online) 1558-0520
    ISSN 0733-8635
    DOI 10.1016/j.det.2023.12.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Frequency of the prominent transverse nasal root vein in children.

    López-Carrera, Igor / Lam, Joseph M / Torrelo, Antonio

    Pediatric dermatology

    2024  

    Abstract: Background: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root ... ...

    Abstract Background: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV).
    Objective: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children.
    Methods: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected.
    Results: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV.
    Conclusions: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition.
    Language English
    Publishing date 2024-02-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.15560
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Transient infantile lingual leukoplakia: An underrecognized cause of white tongues in infancy.

    Lam, Joseph M / Schwieger-Briel, Agnes / Nguyen, Tram / Torrelo, Antonio

    Pediatric dermatology

    2024  

    Abstract: We have observed a distinct phenomenon of transient oral lingual leukoplakia in infancy and report 22 healthy infants with gray-white plaques on the dorsal tongue with sparing of the tip from four medical centers in three countries. The onset of the ... ...

    Abstract We have observed a distinct phenomenon of transient oral lingual leukoplakia in infancy and report 22 healthy infants with gray-white plaques on the dorsal tongue with sparing of the tip from four medical centers in three countries. The onset of the eruption ranged from 1 week to 7 months of life and resolved in 19 patients (86%, with 3 patients lost to follow-up). None of the eight patients examined at 1 year of age had residual findings. We believe this is a common entity that can be distinguished from oral candidiasis on clinical and/or laboratory examination and name this entity "transient infantile lingual leukoplakia."
    Language English
    Publishing date 2024-02-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.15576
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.

    Torrelo, Antonio

    Frontiers in immunology

    2017  Volume 8, Page(s) 927

    Abstract: CANDLE syndrome ( ...

    Abstract CANDLE syndrome (
    Language English
    Publishing date 2017
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2017.00927
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.

    Blicharz, Leszek / Czuwara, Joanna / Rudnicka, Lidia / Torrelo, Antonio

    Clinical reviews in allergy & immunology

    2023  Volume 65, Issue 3, Page(s) 377–402

    Abstract: Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. This led to introducing the term autoinflammatory keratinization diseases ... ...

    Abstract Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. This led to introducing the term autoinflammatory keratinization diseases encompassing entities in which monogenic mutations cause spontaneous activation of the innate immunity and subsequent disruption of the keratinization process. Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis without concomitant psoriasis vulgaris, impetigo herpetiformis, acrodermatitis continua of Hallopeau), NLRP1 (familial forms of keratosis lichenoides chronica), and genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis). Since then, endotypes underlying novel entities matching the concept of autoinflammatory keratinization diseases have been discovered (mutations of JAK1, POMP, and EGFR). This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.
    MeSH term(s) Humans ; Psoriasis/genetics ; Psoriasis/pathology ; Inflammation/genetics ; Mutation ; Immunity, Innate ; Keratosis ; Guanylate Cyclase/genetics ; Membrane Proteins ; CARD Signaling Adaptor Proteins/genetics ; Interleukins/genetics
    Chemical Substances CARD14 protein, human (EC 4.6.1.-) ; Guanylate Cyclase (EC 4.6.1.2) ; Membrane Proteins ; CARD Signaling Adaptor Proteins ; IL36RN protein, human ; Interleukins
    Language English
    Publishing date 2023-12-16
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1239045-8
    ISSN 1559-0267 ; 1080-0549
    ISSN (online) 1559-0267
    ISSN 1080-0549
    DOI 10.1007/s12016-023-08971-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1844: Show issues Location:
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  8. Article ; Online: Pigmented Keratin Granuloma: A Rare Event.

    Fernandez-Flores, Angel / Colmenero, Isabel / Torrelo, Antonio

    The American Journal of dermatopathology

    2023  Volume 45, Issue 11, Page(s) 777–779

    MeSH term(s) Humans ; Keratins ; Granuloma
    Chemical Substances Keratins (68238-35-7)
    Language English
    Publishing date 2023-09-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 448469-1
    ISSN 1533-0311 ; 0193-1091
    ISSN (online) 1533-0311
    ISSN 0193-1091
    DOI 10.1097/DAD.0000000000002534
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Methylprednisolone aceponate for atopic dermatitis.

    Torrelo, Antonio

    International journal of dermatology

    2017  Volume 56, Issue 6, Page(s) 691–697

    Abstract: Background: The 4th generation topical corticosteroids (TCS) have demonstrated a most favorablerisk-benefit ratio. Methylprednisolone aceponate (MPA) is a non-halogenated corticosteroid with a methyl group at C6, which confers higher intrinsic activity. ...

    Abstract Background: The 4th generation topical corticosteroids (TCS) have demonstrated a most favorablerisk-benefit ratio. Methylprednisolone aceponate (MPA) is a non-halogenated corticosteroid with a methyl group at C6, which confers higher intrinsic activity. MPA is included in the group of potent TCS (category III/IV).
    Methods: A literature review is carried out of the clinical efficacy, pharmacokinetics, and adverse effects of MPA, especially for the treatment of atopic dermatitis (AD).
    Results: Several clinical studies support the use of MPA in infants and children, with minimal local or systemic adverse effects reported. The pharmacokinetic profile and the low rate of adverse effects of MPA are most suitable for the treatment of atopic dermatitis (AD), a chronic disease with frequent flaring that can involve extensive areas of the skin.
    Conclusions: Most patients with AD can be easily brought into control with the use of only TCS. Achieving a complete healing of eczema is key in AD, and once the skin is clinically healthy, emollients can be used according to the physician and patient preferences. Physicians should be trained in the recognition of early or subtle manifestations of active eczema that are most suitably treated with topical TCS to achieve a most rapid and satisfactory control of the disease. If the whole area with eczema is not treated, active eczema will remain and treatment will be ineffective. Insufficient use of TCS will lead to inefficiency and frustration.
    Language English
    Publishing date 2017-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 412254-9
    ISSN 1365-4632 ; 0011-9059 ; 1461-1244
    ISSN (online) 1365-4632
    ISSN 0011-9059 ; 1461-1244
    DOI 10.1111/ijd.13485
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Vulvar erosions in a young girl.

    Taibo, Ana / Colmenero, Isabel / Campos, Minia / Torrelo, Antonio

    Pediatric dermatology

    2023  Volume 40, Issue 5, Page(s) 940–942

    MeSH term(s) Female ; Humans ; Vulva ; Pemphigoid, Bullous
    Language English
    Publishing date 2023-02-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.15284
    Database MEDical Literature Analysis and Retrieval System OnLINE

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