Results 21 to 30 of about 434,230 (174)

Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant [PDF]

Indian Journal of Dermatology, 2016
Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier ...
Swathi Sunil Rao, Rathika D Shenoy, Smrithi Salian, Katta M Girisha   +3 more
doaj   +2 more sources

Focal dermal hypoplasia (Goltz Syndrome): A rare case [PDF]

Indian Dermatology Online Journal, 2022
Isha Gupta, Neha Dhankar, Surabhi Dayal, Meha Tyagi   +3 more
doaj   +2 more sources

Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies—A case report [PDF]

SAGE Open Medical Case Reports
Goltz syndrome is a rare condition characterized by thinning of the skin, which leads to the herniation of fat and results in both skin and systemic abnormalities.
Abdikarin Ahmed Mohamed, Hindeya Hailu Hagos, Dawit Seyoum, Amanuel Hadgu   +3 more
doaj   +2 more sources

Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report [PDF]

BMC Ophthalmology, 2010
Background Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features.
Teshome Samuel, Tenkir Addis
doaj   +3 more sources

Male Goltz Syndrome due to Postzygotic PORCN Mosaicism: A Case Report [PDF]

Case Reports in Dermatological Medicine
Goltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare X-linked dominant genetic disorder caused by loss-of-function mutations in the PORCN gene, which is crucial for Wnt protein secretion and signaling during embryonic development.
Vu Anh Dao Tran, Mohammed Eldoadoa, Tong Ba Tran, Nhi Thi Uyen Pham, Lam D. Chau, Abdelrahman M. Makram, Nguyen Tien Huy, Thuy Thi Phan Nguyen, Randa Elsheikh   +8 more
doaj   +2 more sources

Extensive mucocutaneous papillomas in a case of focal dermal hypoplasia [PDF]

Indian Dermatology Online Journal, 2018
Melna Jose, Shyam Sundar Chaudhary, Shiwesh Anand, Anu Garg   +3 more
doaj   +2 more sources

Focal dermal hypoplasia or goltz syndrome: A rare association with keratoconus [PDF]

Indian Journal of Dermatology, 2016
Surajit Gorai, Ayush Bindal, Joly Seth, A B Samanta   +3 more
doaj   +2 more sources

Focal dermal hypoplasia [PDF]

Clinical Genetics, 1974
Focal dermal hypoplasia in five sisters and their mother is presented. The lesions present in this family and in eight additional Mexican cases are reviewed. Fourteen out of 15 cases were females and two were males. All cases had cutaneous lesions, clinically typical of focal dermal hypoplasia; these were confirmed histologically.
R, Ruiz-Maldonado, A, Carnevale, L, Tamayo, M, Milonas de Montiel   +3 more
openaire   +4 more sources

FOCAL DERMAL HYPOPLASIA SYNDROME [PDF]

American Journal of Roentgenology, 1970
1. Focal Dermal Hypoplasia (FDH), a congenital dysplasia of ectodermal and mesodermal structures, has protean manifestations.2. The patients are almost exclusively Caucasian females.3. Clinically, this condition can be identified by the typical skin lesions.
L D, Ginsburg, H O, Sedano, R J, Gorlin
openaire   +2 more sources

Focal dermal hypoplasia - a radiographic case report [PDF]

, 2020
Focal dermal hypoplasia (FDH) is an unusual X-linked dominant disorder that affects ectoderm and mesoderm derived tissues with females affected in 90% of cases. A case report of a 12 year old female diagnosed with FDH is presented.
Nel, Chané, Yakoob, Zarah
core   +1 more source