Results 61 to 70 of about 1,227,185 (144)

Focal dermal hypoplasia: A novel finding in disguise

Journal of Oral Biology and Craniofacial Research, 2018
Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures.We present a case report on the management of a 58 year old Caucasian male with Focal ...
S. Nathwani, K. Martin, R. Bunyan
doaj   +1 more source

Plaque‐type trichoblastoma and its siblings: A (follicular tumour) family history

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Ines Bertlich, Ferdinand Toberer, Tilman Schulz, Dmitry V. Kazakov, Wolfgang Hartschuh   +4 more
wiley   +1 more source

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report [PDF]

, 2013
Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc.
Belli, E., Fini, Giuseppina, Virciglio, Pasquale, Mici, Elidon, D'Itri, L., Pasta, Vittorio, Malavenda, M.S., Krizzuk, D., Maturo, A., Merola, R., Moricca, Luca Maria, Leonardi, A.   +11 more
core   +2 more sources

Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology

Developmental Dynamics, Volume 254, Issue 2, Page 102-141, February 2025.
Abstract The ventral body wall (VBW) that encloses the thoracic and abdominal cavities arises by extensive cell movements and morphogenetic changes during embryonic development. These morphogenetic processes include embryonic folding generating the primary body wall; the initial ventral cover of the embryo, followed by directed mesodermal cell ...
Caroline Formstone, Bashar Aldeiri, Mark Davenport, Philippa Francis‐West   +3 more
wiley   +1 more source

Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management

Indian Journal of Paediatric Dermatology
Gorlin–Goltz syndrome is a rare autosomal dominant disorder caused by an inactivating mutation of the patched 1 gene. Patients could present as early as infancy with varied presentation and multiple basal cell carcinoma.
Adarsh Vijayakumar, Rashmi Mary Philip, Sebastian Criton   +2 more
doaj   +1 more source

The role of electrochemotherapy in the treatment of locally advanced or recurrent eyelid‐periocular basal cell carcinoma: long‐term results

International Journal of Dermatology, Volume 64, Issue 1, Page 111-118, January 2025.
Abstract Background While electrochemotherapy (ECT) is increasingly utilized as a highly effective method in the treatment of tumors in the head and neck region, there is significantly less data available for eyelid‐periocular skin tumors. Our group reported the first extensive case series of eyelid‐periocular basal cell carcinoma (BCC) patients with ...
Attila Vass, Nóra Polgár, Szilvia Alexa Sándor, Dóra Ágoston, Petra Rózsa, Ildikó Csányi, Henriette Ócsai, Eszter Baltás, Judit Oláh, Erika Gabriella Kis, Edit Tóth‐Molnár   +10 more
wiley   +1 more source

Delayed Pulmonary Metastasis of Basal Cell Carcinoma 10 Years After Primary Excision: A Case Report and Literature Review

Case Reports in Medicine, Volume 2025, Issue 1, 2025.
Background: Basal cell carcinoma (BCC) is the most common cutaneous malignancy, characterized by slow progression and a low propensity for metastasis. Metastatic basal cell carcinoma (mBCC) occurs in fewer than 0.1% of the cases, most frequently involving the lungs, lymph nodes, or bones.
Hazhir Moradi, Negar Karavan, Forough Kalantari, Elham Kalantari, Viswanatha Borlingegowda   +4 more
wiley   +1 more source

Gorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder

Case Reports in Dentistry, 2012
Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. Case Report.
Ashutosh Agrawal, Aditi Murari, Sunil Vutukuri, Arun Singh   +3 more
doaj   +1 more source

Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series

Journal of Cutaneous Pathology, Volume 51, Issue 12, Page 980-986, December 2024.
Abstract Background One of the hereditary syndromes associated with multiple early‐onset basal cell carcinomas (BCCs) is basal cell nevus syndrome (BCNS), of which a minority is caused by germline SUFU mutations. Germline SUFU mutations show a spectrum of phenotypes, of which multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC ...
Mashiro van Dal, Sanne R. Martens‐de Kemp, Antien L. Mooyaart, Walter Voogt, Marlies Wakkee, Jeffrey Damman   +5 more
wiley   +1 more source

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

Pediatric Dermatology, Volume 41, Issue 6, Page 1106-1113, November/December 2024.
ABSTRACT Background Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN. Methods We characterized a case series of four genetically confirmed FDH patients
Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter, Jenny Blechingberg, Brian Nauheimer Andersen, Casper Kruse, Mette Sommerlund   +6 more
wiley   +1 more source