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Focal Dermal Hypoplasia: Case Series [PDF]
Indian Journal of Dermatology, 2023 Background: Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies.
Maria Mansouri +4 more
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Focal dermal hypoplasia in a male [PDF]
Dermatology Reports, 2011 Focal dermal hypoplasia (FDH) is a rare mesoectodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular and soft-tissue defects. An X-linked dominant mode of inheritance with lethality in male subjects has been proposed.
Leni George, Nisha Agrawal, Peter Hogan
doaj +7 more sources
Focal dermal hypoplasia: A rare case report [PDF]
Indian Journal of Dermatology, 2015 Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic ...
Sahana M Srinivas, Ravi Hiremagalore
doaj +5 more sources
Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia [PDF]
Case Reports in Dermatology, 2015 Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation.
Stefan Gysin, Peter Itin
doaj +7 more sources
A Case of Focal Dermal Hypoplasia (Goltze Syndrome) Masquerading as Lingual Tonsillar Hypertrophy [PDF]
Case Reports in Otolaryngology, 2019 Focal dermal hypoplasia is a rare condition affecting organ systems of mesodermal origin. We present a rare case of this condition presenting with apparent palatine tonsillar regrowth and outline our management.
Samuel T. Roberts +2 more
doaj +3 more sources
Focal dermal hypoplasia: A novel finding in disguise [PDF]
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 ...
Katy Martin
exaly +4 more sources
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia [PDF]
Children, 2023 Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13
Ali Al Kaissi +6 more
doaj +3 more sources
Focal Dermal Hypoplasia in Males: A Systematic Review [PDF]
Dermatology Practical & ConceptualBackground: Focal dermal hypoplasia (FDH) is an X-linked dominant disorder characterized by dermal atrophy, fat herniations, telangiectasias, and pigmentary changes along Blaschko’s lines, with multisystem involvement affecting the teeth, nails, eyes ...
Vincent Gao +4 more
doaj +3 more sources
Focal Dermal Hypoplasia with Osteopathia Striata. [PDF]
Med Arch, 2022 Background: Focal dermal hypoplasia is a genetic disease of multiple systems initially affecting the skin, skeleton, dental, eyes and face with developmental abnormalities and facial dysmorphism. Focal dermal hypoplasia is X-linked dominant disease affecting the ectoderm, mesoderm and endoderm. 95% feature de novo and 90% of these are females.
Almashaqbeh SS +4 more
europepmc +3 more sources
Focal dermal hypoplasia (Goltz Syndrome): A cross-sectionalstudy from Eastern India [PDF]
Indian Journal of Dermatology, 2017 Introduction: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal ...
Sudip Kumar Ghosh +5 more
doaj +2 more sources