Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Congenital hypertrichosis"'
Autor:
Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena
Publikováno v:
Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old gi
Externí odkaz:
https://doaj.org/article/7c9ba5a760a44343a65d0f6f8ac4d05d
Publikováno v:
Roessler, H I, Van Haaften, G & Van Haelst, M M 2021, ' Young adult with Cantú syndrome : Dealing with a rare genetic skin disorder ', BMJ Case Reports, vol. 14, no. 7, e243118 . https://doi.org/10.1136/bcr-2021-243118
BMJ Case Reports, 14(7):e243118. BMJ Publishing Group
BMJ Case Reports, 14(7):e243118. BMJ Publishing Group
This case report of a young adult with Cantú syndrome (CS) illustrates a remarkable journey of learning how to cope with symptom management and emotional impact associated with a rare skin condition. We describe a 20-year-old woman with a CS-related
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66f137d3ece236022c9ee8d30174fb93
https://pubmed.ncbi.nlm.nih.gov/34253519
https://pubmed.ncbi.nlm.nih.gov/34253519
Publikováno v:
Medical Journal of Dr. D.Y. Patil University, Vol 8, Iss 2, Pp 271-273 (2015)
Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras
Externí odkaz:
https://doaj.org/article/5d984f6c54b140aa90e38dabe65bfff0
Autor:
Luis E. Figuera, Thania Alejandra Aguayo-Orozco, Blanca Estela Ríos-González, Anna Gabriela Castro-Martínez, Andrea Virginia Ruiz-Ramírez
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:1014-1022
Hypertrichosis is a rare condition characterized by excessive hair in areas of the body that are not predominantly androgen dependent. We can identify three main syndromes with congenital generalized hypertrichosis terminalis described in Mexico. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e620f6235ad7af5e8340d68b3670f9f
https://doi.org/10.1002/ajmg.c.31864
https://doi.org/10.1002/ajmg.c.31864
Akademický článek
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Publikováno v:
Journal of Genetic Medicine. 13:99-104
Cantu syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis,...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c5ec7b75a3393698c649ee0a0b9b294
https://doi.org/10.5734/jgm.2016.13.2.99
https://doi.org/10.5734/jgm.2016.13.2.99
Autor:
Vivian E.T. Tng, Sally De Zwaan
Publikováno v:
Clinical Case Reports
Key Clinical Message Hypertrichosis cubiti is an uncommon congenital hypertrichosis with links to genetic syndromes, both autosomal dominant and recessive, with variable penetrance and expressivity. It may also present in sporadic cases with no pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a7bd649d32495884f1c3d5d0cc58ac7
http://europepmc.org/articles/PMC4736513
http://europepmc.org/articles/PMC4736513
Publikováno v:
Archives of Clinical and Medical Case Reports.
Linear lichen planus is a rare variety of lichen planus characterized by lesions following the lines of Blaschko. Anterior cervical hypertrichosis is a rare and unrecognized form of local congenital hypertrichosis. It is characterized by the presence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5344a96786158887cb0938861819aa88
https://doi.org/10.26502/acmcr.96550042
https://doi.org/10.26502/acmcr.96550042
Publikováno v:
European Journal of Dermatology. 25:223-227
Congenital generalized hypertrichosis terminalis (CGHT) is a heterogenous group of diseases with continuing excessive growth of terminal hair. "Ambras syndrome" was first coined by Baumeister in 1993 to describe a case of nonsyndromic CGHT which was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::966eceba28e5625d6933e58c37342049
https://doi.org/10.1684/ejd.2015.2529
https://doi.org/10.1684/ejd.2015.2529
Publikováno v:
Pediatric dermatology. 34(2)
We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51068ae7df6cd83df47b29ee6ef4182c
https://pubmed.ncbi.nlm.nih.gov/28297140
https://pubmed.ncbi.nlm.nih.gov/28297140