Results 11 to 20 of about 434,230 (174)
Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review [PDF]
Case Reports in Dermatology, 2018 Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females.
Sahar Alsharif, Sohad Hindi, Fay Khoja
doaj +4 more sources
Focal dermal hypoplasia: Unusual presentation in Saudi Arabia
Journal of Dermatology & Dermatologic Surgery, 2016 Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females.
Awadh Alamri
exaly +4 more sources
Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature [PDF]
Case Reports in Dermatology, 2011 Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes.
Rocío F. Lopez-Porras +2 more
doaj +3 more sources
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia [PDF]
Molecular Genetics and Metabolism Reports, 2017 Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations.
Simran Madan +11 more
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Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia. [PDF]
PLoS ONE, 2013 In mouse and humans, the X-chromosomal Porcupine homolog (Porcn) gene is required for the acylation and secretion of all 19 Wnt ligands, thus representing a bottleneck in the secretion of Wnt ligands.
Steffen Biechele +3 more
doaj +3 more sources
A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations
The Turkish Journal of Pediatrics, 1998 In this report we present three affected females of the same family in three generations. The cases have features of focal dermal hypoplasia (Goltz syndrome).
M Seven +5 more
doaj +4 more sources
Focal dermal hypoplasia: report of a Taiwanese case
Dermatologica Sinica, 2011 Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare X-linked dominant ectodermal and mesodermal disease involving the skin, distal limbs, and eyes. About 95% of the cases appear de novo, and 90% are females.
Meng-Chi Wu +2 more
doaj +2 more sources
Growth failure in focal dermal hypoplasia. [PDF]
Am J Med Genet A, 2019 Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study sought to elucidate specific causes for short stature by assessing growth charts, determining bone ages ...
Hsu SC +7 more
europepmc +4 more sources
A case report of focal dermal hypoplasia-Goltz syndrome [PDF]
Indian Dermatology Online Journal, 2013 Goltz syndrome is a rare multisystem disorder with cutaneous, ocular, dental and skeletal abnormalities. Other mesoectodermal abnormalities are also present. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation.
Sheela Bharani, Sejal Thakkar
doaj +2 more sources
Almost Unilateral Focal Dermal Hypoplasia. [PDF]
Ann Dermatol, 2017 Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea.
Lee S, Choe SJ, Ahn SK.
europepmc +4 more sources