Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Hypomelanotic macule"'
Autor:
Wataya-Kaneda Mari, Lingli Yang, Ena Sakai, Aya Takahashi, Manabu Fujimoto, Satoshi Hattori, Ichiro Katayama
Publikováno v:
Journal of the American Academy of Dermatology. 87:237-240
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22bf8d9f02a086fc5177f8bf1a89403e
https://doi.org/10.1016/j.jaad.2021.07.071
https://doi.org/10.1016/j.jaad.2021.07.071
Publikováno v:
Annals of Palliative Medicine. 10:11232-11238
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organs and is caused by inactive mutations in the TSC1 or TSC2 genes. The main symptoms of TSC are neurocutaneous syndrome and benign hamartoma formation. Notabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22b4379c325bb5e86850ce56de8237f7
https://doi.org/10.21037/apm-21-2814
https://doi.org/10.21037/apm-21-2814
Publikováno v:
Dermatopathology
Dermatopathology, Vol 8, Iss 29, Pp 236-252 (2021)
Dermatopathology, Vol 8, Iss 29, Pp 236-252 (2021)
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a89ab2a7eeeb2460cf9ec531d25b58
http://europepmc.org/articles/PMC8293214
http://europepmc.org/articles/PMC8293214
Publikováno v:
Neuropediatrics. 52:146-149
Sleep-related hypermotor epilepsy (SHE) is a rare syndrome that presents with hyperkinetic asymmetric tonic/dystonic seizures with vegetative signs, vocalization, and emotional facial expression, mainly during light non-rapid eye movement sleep stage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a2b895ee4b313e944d7f7123646bbf
https://doi.org/10.1055/s-0041-1722881
https://doi.org/10.1055/s-0041-1722881
Autor:
Hironori Niizeki, Chiharu Tateishi, Kazuyoshi Fukai, Shigeki Shimasaki, Yasuyuki Fujita, Izumi Hamada, Tatsuro Takahata, Akihiko Asahina, Yuuki Ohno, Hiroyuki Murota, Hiroo Yokozeki, Masaaki Ogai, Kenji Shimizu, Mari Wataya-Kaneda, Yuichi Yoshida, Kazue Yoshida, Hiroshi Nagai
Publikováno v:
Dermatology and Therapy, Vol 10, Iss 4, Pp 635-650 (2020)
Dermatology and Therapy
Dermatology and Therapy
Introduction Our previous clinical studies have demonstrated the short-term efficacy and safety of the sirolimus gel for patients with tuberous sclerosis complex (TSC). However, long-term clinical evidence is lacking. Our objective was to assess the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aa3201100311a69f505849693888027
https://doi.org/10.1007/s13555-020-00387-7
https://doi.org/10.1007/s13555-020-00387-7
Publikováno v:
Panacea Journal of Medical Sciences. 8:123-125
A patient with tuberous sclerosis and attention deficit hyperactivity disorders is reported. He presented with generalized tonic-clonic seizures, skin lesions, restlessness, irritability, hyperactivity and impulsivity since 4 years. He had also devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e33c343884b4d1dee0d09a6ff1bcbf66
https://doi.org/10.18231/2348-7682.2018.0028
https://doi.org/10.18231/2348-7682.2018.0028
Autor:
Moges Tamirat, Beyene Ayalew
Publikováno v:
Ethiopian Journal of Health Sciences
BACKGROUND: Neonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestations. CASEPRESENTATION: We reported a 4 days old female neonate with respiratory distres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd060919f843dc2c432f31194efed0df
http://europepmc.org/articles/PMC8054458
http://europepmc.org/articles/PMC8054458
Autor:
Nesia Kropach, Osnat Konen, Rivka Friedland, Rony Cohen, Gad Dotan, Mika Shapira Rootman, Yael Goldberg, Helen Toledano, Inbal Keidar
Publikováno v:
Clinical Genetics. 97:296-304
Constitutional mismatch repair deficiency is a rare cancer predisposition syndrome caused by biallelic mutations in one of the four mismatch repair genes. Patients are predisposed to various tumors including hematological malignancies, brain tumors a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a62896db12fa0e7515d56755afa55f3
https://doi.org/10.1111/cge.13656
https://doi.org/10.1111/cge.13656
Publikováno v:
Cureus
Tuberous sclerosis complex is known to cause a variety of cutaneous hamartomas, most commonly hypomelanotic macules, angiofibromas, shagreen patches, and fibrous cephalic plaques. In recent years, a new cutaneous hamartoma that bears physical and his
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba863e26b9f5f9653c95d7ca634d442
http://europepmc.org/articles/PMC8195546
http://europepmc.org/articles/PMC8195546
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