432 results match your criteria Focal Dermal Hypoplasia Syndrome

and Mutations in a Highly Consanguineous Family.

Int J Mol Sci 2021 Feb 4;22(4). Epub 2021 Feb 4.

IBUB, IRSJD, and CIBERER (ISCIII), Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous. Read More

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February 2021

The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.

Rudolf Happle

Am J Med Genet A 2021 01 21;185(1):13-14. Epub 2020 Nov 21.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

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January 2021

Stromal Vascular Fraction and its Role in the Management of Alopecia: A Review.

J Clin Aesthet Dermatol 2019 Nov 1;12(11):35-44. Epub 2019 Nov 1.

Drs. Stefanis, Arenbergerova, and Arenberger are with the Department of Dermatology and Venereology, Faculty Hospital Kralovske Vinohrady and Third Medical Faculty of Charles University in Prague, the Czech Republic.

Adipose cells organized in small clusters under the reticular dermis closely interact with hair follicular cells and regulate the hair cycle. Intradermal adipocyte progenitor cells are activated toward the end of the telogen phase to proliferate and differentiate into mature adipocytes. These cells, surrounding the hair follicles, secrete signaling molecules that control the progression of the hair cycle. Read More

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November 2019

Multiple cutaneous and skeletal abnormalities in an 8-month-old boy.

Pediatr Dermatol 2020 Jan;37(1):e7-e8

Department of Dermatology, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.

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January 2020

Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.

J Gene Med 2020 05 16;22(5):e3165. Epub 2020 Feb 16.

Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.

Background: Focal dermal hypoplasia (FDH) is rare X-linked dominant disease characterized by atrophy and linear pigmentation of the skin, split hand/foot deformities and ocular anomalies. FDH is caused by mutations of the Porcupine (PORCN) gene, which encodes an enzyme that catalyzes the palmitoylation of Wnt ligands required for their secretion. High resolution melting analysis (HRM) is a technique that allows rapid, labor-efficient, low-cost detection of genomic variants. Read More

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Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK.

BMJ Case Rep 2019 Dec 5;12(12). Epub 2019 Dec 5.

Ear, Nose and Throat Surgery, Imperial College Healthcare NHS Trust, London, UK.

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. Read More

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December 2019

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.

Am J Dermatopathol 2020 Sep;42(9):653-661

Dermatopathology Laboratory Duisburg, Duisburg, Germany; and.

Goltz-Gorlin syndrome (GGS) (focal dermal hypoplasia) is a very rare developmental disorder affecting ectodermal and mesodermal structures. The syndrome is inherited in an X-linked manner, with the majority of affected individuals being female. We report the case of a 51-year-old man presenting with congenital skin lesions, syndactyly, facial and thoracic asymmetry, inguinal and laryngeal papillomas, cryptorchidism, polythelia, and dental anomalies. Read More

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September 2020

Band-like Lipomatous Metaplasia of the Superficial Dermis and Nonseptate Subcutaneous Tissue: A Rare Histopathological Phenomenon With Ultrasonographic Correlation.

Am J Dermatopathol 2020 Jul;42(7):526-529

Pathology Department, Hospital Universitari General de Catalunya (HUGC), Sant Cugat del Vallès, Spain; and.

Lipomatous metaplasia of the upper dermis is a rare phenomenon scarcely described in the literature which has always been identified in the context of inflammatory or neoplastic processes. Microscopically, it should be distinguished from pseudolipomatosis cutis, dermal lipoma, nevus lipomatosus, and focal dermal hypoplasia (Goltz syndrome). This is the first report of the histologic and ultrasound evaluation of a patient with extensive involvement and the description of the coincidental finding of an anomalous nonseptate subcutaneous tissue. Read More

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Goltz-Gorlin syndrome: a rare cause of ectrodactyly.

Postgrad Med J 2020 Feb 28;96(1132):116. Epub 2019 Sep 28.

Department of Dermatology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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February 2020

Goltz syndrome: Primary diagnosis by an ophthalmologist.

Indian J Ophthalmol 2019 09;67(9):1467-1468

Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India.

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September 2019

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.

Pediatr Dermatol 2020 Jan 2;37(1):217-218. Epub 2019 Aug 2.

Department of Dermatology, University of Florida, Gainesville, Florida.

Microphthalmia and linear skin defects syndrome (MLS) is a rare X-linked dominant disorder characterized by microphthalmia and linear atrophic plaques of the face and neck. The diagnosis of MLS can be challenging secondary to both its rarity and to clinical overlap with Goltz syndrome. Whereas the skin lesions of MLS are more likely to improve in appearance with age, the lesions of Goltz are typically persistent. Read More

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January 2020

A Case of Focal Dermal Hypoplasia (Goltze Syndrome) Masquerading as Lingual Tonsillar Hypertrophy.

Case Rep Otolaryngol 2019 18;2019:9536256. Epub 2019 Jun 18.

Sydney Children's Hospital, Randwick, NSW 2031, Australia.

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. Airway management should always be a consideration in this rare condition. Read More

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Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

Periodontol 2000 2019 06;80(1):12-27

WHO Collaboration Centre for Epidemiology and Community Dentistry, University of Milan, Milan, Italy.

A large number of disorders may affect the oral cavity, including genetic diseases, infections, cancers, blood diseases, skin diseases, endocrine and metabolic disorders, autoimmune and rheumatologic diseases, local lesions, to name a few. Oral mucosa shows a considerable variation in its normal structure and a wide range of conditions may affect it. Such conditions are often harmless or minor and could be primary or secondary to systemic disease. Read More

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A 3-month-old with papules and plaques in a blaschkoid distribution.

Int J Dermatol 2019 Sep 14;58(9):1037-1039. Epub 2019 Mar 14.

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, OH, USA.

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September 2019

A rose is a rose: naevoid manifestations blur the boundary between naevus and classical gene defect in focal dermal hypoplasia.

H Traupe

Br J Dermatol 2019 03;180(3):461-462

Department of Dermatology, University of Münster, Von-Esmarch-Str. 58, 48149, Münster, Germany.

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Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum.

Br J Dermatol 2019 09 17;181(3):613-614. Epub 2019 May 17.

Department of Dermatology, St George's Hospital, Tooting, London, U.K.

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September 2019

Growth failure in focal dermal hypoplasia.

Am J Med Genet A 2019 04 28;179(4):628-633. Epub 2019 Jan 28.

USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas.

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 and auxologic measurements, examining laboratory data for the common causes of growth failure, assessing dietary intake, and performing a growth hormone stimulation test. Read More

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Goltz syndrome in males: A clinical report of a male patient carrying a novel variant and a review of the literature.

Clin Case Rep 2018 Nov 21;6(11):2103-2110. Epub 2018 Sep 21.

Department of Molecular Medicine and Surgery Center of Molecular Medicine Karolinska Institutet Stockholm Sweden.

Here, we report a novel mosaic mutation in the gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies. Read More

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November 2018

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

Br J Dermatol 2019 03 30;180(3):657-661. Epub 2018 Sep 30.

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Focal dermal hypoplasia (FDH, Goltz syndrome, MIM #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In male children, hemizygous PORCN mutations are lethal in utero. Read More

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Focal dermal hypoplasia: A novel finding in disguise.

J Oral Biol Craniofac Res 2018 May-Aug;8(2):143-146. Epub 2018 Feb 1.

Department of Oral and Maxillofacial Surgery, Luton and Dunstable University Hospital, Lewsey Road, Luton, LU4 0DZ, United Kingdom.

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 Dermal Hypoplasia. This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Read More

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February 2018

Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.

Case Rep Dermatol 2018 May-Aug;10(2):101-109. Epub 2018 May 3.

Dental Department, King Abdulaziz University, Jeddah, Saudi Arabia.

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. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. Read More

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Extensive Mucocutaneous Papillomas in a Case of Focal Dermal Hypoplasia.

Indian Dermatol Online J 2018 May-Jun;9(3):208-210

Department of Dermatology, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India.

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[Focal dermal hypoplasia (Goltz syndrome)].

Bol Med Hosp Infant Mex 2018 ;75(3):178-182

Servicio de Dermatología Pediátrica. Hospital General de San Juan del Río, Querétaro, México.

Background: Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. Read More

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A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.

Cytogenet Genome Res 2018 10;154(3):119-121. Epub 2018 Mar 10.

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11. Read More

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Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.

Ann Neurol 2018 03 10;83(3):623-635. Epub 2018 Mar 10.

Department of Medical Genetics, University of Campinas and Brazilian Institute of Neuroscience and Neurotechnology, Campinas, Brazil.

Objective: Focal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work, we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II.

Methods: We used total RNA from the brain tissue of 16 patients with FCD type II and 28 controls. Read More

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Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Indian J Pediatr 2018 Dec 31;85(12):1067-1072. Epub 2018 Jan 31.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India.

Objective: To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby.

Methods: The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done.

Results: All four mutation proven patients were females (2 adults and 2 children). Read More

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December 2018

Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma.

Ophthalmic Plast Reconstr Surg 2018 May/Jun;34(3):e83-e85

Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA and Associate Eye Physicians and Surgeons, Quincy, Massachusetts, U.S.A.

A 53-year-old man presented with smooth-domed, variegated cysts (polycystic disease) of all 4 eyelids, worse on the left side. Some of the cysts were clear, while others were creamy-white colored. In addition, multiple, very fine vesicopapules were noted along the eyelid margins. Read More

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