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  1. Article ; Online: Hypohidrotic Ectodermal Dysplasia: Classical Clinical Features.

    Gupta, Pratibha / Agrawal, Sonia / Grover, Chander

    Indian pediatrics

    2024  Volume 61, Issue 5, Page(s) 503

    MeSH term(s) Humans ; Male ; Ectodermal Dysplasia 1, Anhidrotic/diagnosis ; Ectodermal Dysplasia 1, Anhidrotic/genetics ; Infant
    Language English
    Publishing date 2024-03-27
    Publishing country India
    Document type Case Reports ; Journal Article
    ZDB-ID 402594-5
    ISSN 0974-7559 ; 0019-6061
    ISSN (online) 0974-7559
    ISSN 0019-6061
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 859: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Hypohidrotic Ectodermal Dysplasia: A Case Report.

    Shamim, Humaira / Hanif, Sumera

    Cureus

    2023  Volume 15, Issue 10, Page(s) e46530

    Abstract: Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance ... ED has two types hypohidrotic or anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia ... We report this case of classical hypohidrotic ectodermal dysplasia (HED) with clubbing. The association ...

    Abstract Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance of ectoderm-derived tissues, organs, and accessory appendages, i.e. skin, hair, tooth, nail, and sweat glands. ED has two types hypohidrotic or anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. We report this case of classical hypohidrotic ectodermal dysplasia (HED) with clubbing. The association of clubbing with HED is still rare. This case report aims to discuss the etiology, clinical manifestations, and management of ectodermal dysplasia. A multidisciplinary approach is required including dentists, nutritionists, dermatologists, and physicians to manage ectodermal dysplasia.
    Language English
    Publishing date 2023-10-05
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.46530
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Hypohidrotic ectodermal dysplasia: A rare entity.

    Srivastava, Himanshu / Singh, Chintu K / Qureshi, Sameera M R / Mastud, Chaitra S

    Journal of oral and maxillofacial pathology : JOMFP

    2023  Volume 27, Issue Suppl 1, Page(s) S75–S79

    Abstract: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group ... to person depending on the type of ectodermal dysplasia (ED). The patterns include X-linked recessive, X ... of inherited conditions. This condition is characterised by the failed development of two or more ectodermal ...

    Abstract Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands. It is a phenotypically heterogenous group of illnesses including anodontia with conical teeth, generalised spacing, reduced ability to sweat, very less hair growth, etc. The pattern of inheritance of HED varies from person to person depending on the type of ectodermal dysplasia (ED). The patterns include X-linked recessive, X-linked dominant, autosomal dominant, autosomal recessive, and spontaneous mutation. There is one such common type of ED more in female than male. It is an X-linked HED (XLHED), characterised by hypohidrosis, sparse hair, and teeth abnormalities. The other type can affect both male and female equally and may be inherited in different ways. The present case is a 21-year-old male who presented with hair, teeth, and sweat gland abnormalities.
    Language English
    Publishing date 2023-02-04
    Publishing country India
    Document type Case Reports
    ZDB-ID 2390999-7
    ISSN 1998-393X ; 0973-029X
    ISSN (online) 1998-393X
    ISSN 0973-029X
    DOI 10.4103/jomfp.jomfp_72_21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Hypohidrotic ectodermal dysplasia: a case report.

    Albeik, Muhammad T M N / Abdullah, Lava / Almatroud, Muhammad M

    Annals of medicine and surgery (2012)

    2023  Volume 85, Issue 3, Page(s) 519–522

    Abstract: Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder ... it affects organs originating from the embryonic ectoderm.: Case presentation: We present a case of a 2 ...

    Abstract Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000-10,000 newborns. This disorder has a wide range of clinical manifestations; it affects organs originating from the embryonic ectoderm.
    Case presentation: We present a case of a 2-year-old boy diagnosed with HED, the boy was suffering from absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, sparse and light-colored hair on the scalp, absent eyebrows, and delayed eruption of abnormally shaped teeth.
    Clinical discussion: The are no diagnostic criteria guidelines for HED, we diagnosed the disorder by the clinical manifestations and the family history. The management of patients with HED is palliative.
    Conclusion: This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality.
    Language English
    Publishing date 2023-02-17
    Publishing country England
    Document type Case Reports
    ZDB-ID 2745440-X
    ISSN 2049-0801
    ISSN 2049-0801
    DOI 10.1097/MS9.0000000000000240
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Ectodermal Dysplasia: A Case Report.

    Alshegifi, Hussein A / Alamoudi, Abdulmajeed M / Alrougi, Abdullah / Alshaikh, Hassan / Alamri, Awadh / Shawli, Aiman M

    Cureus

    2022  Volume 14, Issue 1, Page(s) e21184

    Abstract: Ectodermal dysplasia (ED) is a hereditary genetic disorder that manifests a variety of deformities ... Saudi girl with typical features of ectodermal dysplasia who presented to a dermatology clinic. ... in one or more of the ectodermal derivatives. Ectodermal derivatives originate from ectodermal layers ...

    Abstract Ectodermal dysplasia (ED) is a hereditary genetic disorder that manifests a variety of deformities in one or more of the ectodermal derivatives. Ectodermal derivatives originate from ectodermal layers during embryonic development, such as skin, nails, hair, teeth, and exocrine glands. Over 150 variants of ED are reported in the literature. It has an incidence of seven in every 100,000 live births. There are two types of ED, which are hypohidrotic (anhidrotic) and hydrotic. The types are classified according to the degree of function of the sweat glands. This report discusses the case of a 13-month-old Saudi girl with typical features of ectodermal dysplasia who presented to a dermatology clinic.
    Language English
    Publishing date 2022-01-12
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.21184
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  6. Book ; Thesis: Oligodontia and ectodermal dysplasia

    Bergendal, Birgitta

    on signs, symptoms, genetics, and outocmes of dental treatment

    (Swedish dental journal : Supplement ; 205 ; Umeå University odontological dissertations ; 110)

    2010  

    Author's details Birgitta Bergendal
    Series title Swedish dental journal : Supplement ; 205
    Umeå University odontological dissertations ; 110
    Swedish dental journal
    Umeå Universitet odontological dissertations
    Swedish dental journal ; Supplement
    Collection Swedish dental journal
    Umeå Universitet odontological dissertations
    Swedish dental journal ; Supplement
    Language English
    Size Getr. Zählung : Ill., graph. Darst.
    Publishing place Umeå
    Publishing country Sweden
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Umeå, Univ., Diss., 2010
    HBZ-ID HT016352643
    ISBN 978-91-7264-941-5 ; 91-7264-941-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs B 1960 -Suppl.205- verfügbar in Königswinter Königswinter

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  7. Article: Ectrodactyly Ectodermal Dysplasia Cleft Lip (EEC) Syndrome.

    Kothari, Rohit / Kishore, Karthi / Chand, Satish

    Indian dermatology online journal

    2023  Volume 14, Issue 6, Page(s) 919

    Language English
    Publishing date 2023-07-10
    Publishing country India
    Document type Journal Article
    ZDB-ID 2585814-2
    ISSN 2249-5673 ; 2229-5178
    ISSN (online) 2249-5673
    ISSN 2229-5178
    DOI 10.4103/idoj.idoj_659_22
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.

    Jith, Gopika / Suba, Santanu / Giri, Sanjay Kumar

    The journal of hand surgery Asian-Pacific volume

    2024  Volume 29, Issue 3, Page(s) 248–251

    Abstract: Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is an exceedingly rare condition associated ...

    Abstract Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is an exceedingly rare condition associated with mutations in the PVL4 gene. It is characterised by sparse, brittle hair, eyebrows and eyelashes, abnormal dentition and nails, along with bilateral cutaneous syndactyly involving the fingers and toes. We report a 2-year-old girl who presented to us with bilateral complete simple syndactyly of the third and fourth web spaces of the hands, along with bilateral syndactyly of both feet involving the second to fourth toes. Upon examination, sparse hair and eyebrows, along with abnormal dentition, were noted. Thorough clinical examination and genetic analysis were conducted on the affected child and her father, who exhibited similar clinical features. Genetic analysis revealed a homozygous nonsense mutation in the PVL4 gene in both individuals. According to the literature, EDSS1 has been reported in only 10 families worldwide, and there are no reported cases from India.
    MeSH term(s) Humans ; Female ; Syndactyly/genetics ; Syndactyly/diagnosis ; Syndactyly/pathology ; Child, Preschool ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/pathology ; Codon, Nonsense ; Male
    Chemical Substances Codon, Nonsense
    Language English
    Publishing date 2024-05-10
    Publishing country Singapore
    Document type Case Reports ; Journal Article
    ZDB-ID 2848651-1
    ISSN 2424-8363 ; 2424-8355
    ISSN (online) 2424-8363
    ISSN 2424-8355
    DOI 10.1142/S242483552472007X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5911: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  9. Article: Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report.

    Liao, Ming-Yi / Peng, Hui / Li, Long-Nian / Yang, Tao / Xiong, Shi-Yin / Ye, Xiao-Ying

    World journal of clinical cases

    2023  Volume 11, Issue 6, Page(s) 1403–1409

    Abstract: ... with hidrotic ectodermal dysplasia (HED) with a variation in : Case summary: This investigation involved a large Chinese family ... patient with normal sweat gland function and dental development, no skeletal dysplasia, no cognitive ...

    Abstract Background: We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia (HED) with a variation in
    Case summary: This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED. The proband (IV4) was a male patient with normal sweat gland function and dental development, no skeletal dysplasia, no cognitive disability, and no hearing impairments. His parents were not consanguineously married. Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longitudinal ridges, in addition to mild bilateral palmoplantar hyperkeratosis.
    Conclusion: We report another HED phenotype associated with
    Language English
    Publishing date 2023-01-30
    Publishing country United States
    Document type Case Reports
    ISSN 2307-8960
    ISSN 2307-8960
    DOI 10.12998/wjcc.v11.i6.1403
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Intubation in a Case of Ectodermal Dysplasia During Surgery: A Case Report.

    Geetha, Sindhu / Verma, Neeta / Singam, Amol

    Cureus

    2024  Volume 16, Issue 1, Page(s) e51504

    Abstract: Ectodermal dysplasia, a heterogeneous group of rare genetic disorders, is characterized ... presents a unique and challenging case of a 33-year-old male with ectodermal dysplasia who underwent Le ... with ectodermal dysplasia, emphasizing the importance of individualized care, innovative techniques, and interdisciplinary ...

    Abstract Ectodermal dysplasia, a heterogeneous group of rare genetic disorders, is characterized by the aberrant development of ectodermal structures, leading to various clinical anomalies. This case report presents a unique and challenging case of a 33-year-old male with ectodermal dysplasia who underwent Le Fort III advancement and implant rehabilitation surgery to address severe craniofacial and dental deficiencies. This case, characterized by facial dysmorphism, craniofacial anomalies, and the absence of a nasal bone, highlights the complexity of surgical planning required to address these diverse clinical features. The crucial element of this report is the innovative approach to airway management through trans mylohyoid/submental intubation, which successfully navigated the patient's aberrant anatomy. Multidisciplinary collaboration played a pivotal role in achieving a holistic and patient-centered approach. By sharing this case, we aim to provide insights into the nuances of managing complex patients with ectodermal dysplasia, emphasizing the importance of individualized care, innovative techniques, and interdisciplinary teamwork to optimize patient outcomes and contribute to advancing medical knowledge.
    Language English
    Publishing date 2024-01-02
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.51504
    Database MEDical Literature Analysis and Retrieval System OnLINE

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