Results 41 to 50 of about 1,226,922 (193)

Image_5_Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.tif

, 2022
BackgroundCongenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by ...
Yang Zhao (39052), Jie Ma (166937), Haibo Zhang (5720), Yufan Chen (679519)   +3 more
core   +1 more source

Tonsillar Hypertrophy in Goltz-Gorlin Syndrome: Case Report and Literature Review

B-ENT, 2023
Goltz-Gorlin syndrome, also known as focal dermal hypoplasia or nevoid basal cell carcinoma syndrome, is a rare multisystemic disease caused by autosomal dominant mutations in the PORCN gene.
Emilie Lavrysen, Bart Loeys, Olivier M. Vanderveken, An Boudewyns   +3 more
doaj   +2 more sources

Oral manifestation of Goltz-Gorlin syndrome in a young girl [PDF]

, 2012
Introduction Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene.
Clarich, G, G Clarich, Callea, M., Deroma, L, I Yavuz, Yavuz, I, Callea M, Montanari, Marco, Montanari, M, E Albertini, Garavelli L, Clarich G, Maglione M, Albertini, Enrico, Yavuz I, MAGLIONE, MICHELE, Deroma, Laura, Callea, M, Deroma L, L., Yavuz, İzzet, Garavelli, E. Albertini, L Garavelli, L Deroma, M Montanari, M Maglione, M Callea, Albertini E, Montanari M, Clarich, Gabriella   +29 more
core   +1 more source

Image_4_Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.tif

, 2022
BackgroundCongenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by ...
Yang Zhao (39052), Jie Ma (166937), Haibo Zhang (5720), Yufan Chen (679519)   +3 more
core   +1 more source

Basaloid follicular hamartoma associated with follicular mucinosis and inflammation

Anais Brasileiros de Dermatologia, 2022
Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma.
Solange Edelman, Adriana Natalia Torres Huamani, María Del Valle Centeno, Andrea Bettina Cervini   +3 more
doaj   +1 more source

Table_1_Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.docx

, 2022
BackgroundCongenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by ...
Yang Zhao (39052), Jie Ma (166937), Haibo Zhang (5720), Yufan Chen (679519)   +3 more
core   +1 more source

Gorlin-Goltz syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2015
A 12 years old girl was presented with bilateral swellings on angle and body of mandible. On general physical examination, there were polydactyly and papular lesions on arm. Histopathology of mandibular lesions revealed odontogenic keratocysts. Marsupialization of the cysts followed by enucleation was done. The patient was reviewed every six months and
Ali Akhtar, Khan, Saima, Perveen, Naeem, Raza, Syed Gulzar, Ali Bukhari   +3 more
  +7 more sources

From the diagnosis of a mandibular cystic lesion to the surgical management of a case of a nevoid basal cell carcinoma syndrome

Journal of Oral Medicine and Oral Surgery
Introduction: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary disease with autosomal dominant transmission. Multiple basal cell carcinomas, keratocysts located in the jaw, and developmental abnormalities are common ...
Khenifi Houcem, Rohart Justine, Moizan Hervé, Benateau Hervé   +3 more
doaj   +1 more source

Depicting the Immunological Landscape of Basal Cell Carcinoma Subtypes

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Background Anti‐PD‐1 response has been associated with higher PD‐1 ligand (PD‐L1) expression levels in different cancer types. Cemiplimab, an anti‐PD‐1 antibody, has been shown to induce a response rate of 31% and 22% in patients with locally advanced basal cell carcinoma (BCC) and metastatic BCC respectively, who have progressed or are ...
Isabella Dommann, Gaetana Restivo, Isabel Kolm, Federica Sella, Patrick Turko, Phil F. Cheng, Mitchell Levesque, Corina Dommann‐Scherrer, Reinhard Dummer, Egle Ramelyte   +9 more
wiley   +1 more source

Focal dermal hypoplasia (Goltz syndrome): case reports [PDF]

, 1978
CITATION: Derks, B., Gericke, G. S. & Louw, M. 1978. Focal dermal hypoplasia (Goltz syndrome): case reports. South African Medical Journal, 54(1):27-29.The original publication is available at http://www.samj.org.zaTwo children, both with physical ...
Derks, B., Gericke, G. S., Louw, M.
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