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  1. Article ; Online: Focal dermal hypoplasia

    Sahana M Srinivas / Ravi Hiremagalore

    Indian Journal of Dermatology, Vol 60, Iss 1, Pp 106-

    A rare case report

    2015  Volume 106

    Abstract: Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic ... ...

    Abstract Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.
    Keywords Focal dermal hypoplasia ; Goltz syndrome ; lobster-claw hand ; Medicine ; R ; Dermatology ; RL1-803
    Language English
    Publishing date 2015-01-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Clinical and molecular studies in two patients with dystrophic epidermolysis bullosa.

    Ramesh, Asha / Hongal, Amrita / Srinivasa, Manoj / Desai, Sheetal / Mala, R / Jayashankar, Charitha K / Abhigna, Rai / Jyothi, Vishwanth / Asha, Kubba / Meenakshi, Batrani / Ravi, Hiremagalore / Gurudatta, Baraka Vishwanthan

    Indian journal of dermatology, venereology and leprology

    2023  Volume 89, Issue 6, Page(s) 880–883

    MeSH term(s) Humans ; Epidermolysis Bullosa Dystrophica ; Skin ; Epidermolysis Bullosa
    Language English
    Publishing date 2023-04-18
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 416068-x
    ISSN 0973-3922 ; 0019-5162 ; 0378-6323
    ISSN (online) 0973-3922
    ISSN 0019-5162 ; 0378-6323
    DOI 10.25259/IJDVL_225_2022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Sjögren-Larsson syndrome

    Sahana M Srinivas / KN Vykunta Raju / Ravi Hiremagalore

    Indian Dermatology Online Journal, Vol 5, Iss 2, Pp 185-

    A study of clinical symptoms in six children

    2014  Volume 188

    Abstract: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde ... ...

    Abstract Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS.
    Keywords Congenital ichthyosis ; mental retardation ; spastic paresis ; Dermatology ; RL1-803 ; Medicine ; R
    Language English
    Publishing date 2014-01-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Clinical outcome of collodion baby

    Sacchidanand S Aradhya / Sahana M Srinivas / Ravi Hiremagalore / Asha G Shanmukappa

    Indian Journal of Dermatology, Venereology and Leprology, Vol 79, Iss 4, Pp 553-

    A retrospective review

    2013  Volume 553

    Keywords Dermatology ; RL1-803 ; Medicine ; R
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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