413 results match your criteria Focal Dermal Hypoplasia Syndrome


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

Authors:
H Traupe

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

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

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http://dx.doi.org/10.1111/bjd.17185DOI Listing

Growth failure in focal dermal hypoplasia.

Am J Med Genet A 2019 Apr 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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http://dx.doi.org/10.1002/ajmg.a.61051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435029PMC
April 2019
1 Read

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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http://doi.wiley.com/10.1002/ccr3.1783
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http://dx.doi.org/10.1002/ccr3.1783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230642PMC
November 2018
9 Reads

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

Br J Dermatol 2019 Mar 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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http://dx.doi.org/10.1111/bjd.17024DOI Listing
March 2019
2 Reads

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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http://dx.doi.org/10.1016/j.jobcr.2018.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993465PMC
February 2018
3 Reads

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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http://dx.doi.org/10.1159/000488521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981586PMC
May 2018
3 Reads

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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http://dx.doi.org/10.4103/idoj.IDOJ_145_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956877PMC
June 2018
1 Read

[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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http://dx.doi.org/10.24875/BMHIM.M18000025DOI Listing
January 2018
1 Read

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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http://dx.doi.org/10.1159/000487580DOI Listing
May 2018
1 Read

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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http://dx.doi.org/10.1007/s12098-018-2632-1DOI Listing
December 2018
2 Reads

Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl.

J Pediatr Gastroenterol Nutr 2018 05;66(5):e132-e134

Faculty of Medicine, University of Ottawa.

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http://dx.doi.org/10.1097/MPG.0000000000001899DOI Listing
May 2018
3 Reads
2.620 Impact Factor

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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http://dx.doi.org/10.1097/IOP.0000000000001069DOI Listing
July 2018
3 Reads

Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

Indian J Dermatol 2017 Sep-Oct;62(5):498-504

Department of Dermatology, Venereology, and Leprosy R.G.Kar Medical College, Kolkata, West Bengal, India.

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, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome.

Methology: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India. Read More

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http://dx.doi.org/10.4103/ijd.IJD_317_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618837PMC
October 2017
5 Reads

Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl.

JAMA Dermatol 2017 12;153(12):1292-1297

Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.

Importance: Current models of Goltz syndrome cannot estimate the overall neocollagenesis and marked shift in collagen types after ablative fractional laser resurfacing (AFR) within treated areas of focal dermal hypoplasia (FDH).

Objectives: To clinically improve FDH by using AFR to characterize the specific ratio of collagen types associated with observed clinical changes.

Design, Setting, And Participants: This case report of a girl with Goltz syndrome used extensive laboratory evaluation and multiple observers blinded to the patient's clinical status. Read More

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http://dx.doi.org/10.1001/jamadermatol.2017.3669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817476PMC
December 2017
9 Reads

[Focal dermal hypoplasia (Goltz syndrome) associated with bicuspid aortic valve].

Ann Dermatol Venereol 2017 Nov 7;144(11):719-720. Epub 2017 Aug 7.

Service de dermatologie et vénéréologie, faculté de médecine et de pharmacie, université Cadi Ayyad, CHU Mohammed VI, BP 7010, Sidi Abbad, 40000 Marrakech, Maroc.

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http://dx.doi.org/10.1016/j.annder.2017.06.005DOI Listing
November 2017
4 Reads

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

J Med Genet 2017 09 29;54(9):585-590. Epub 2017 Jun 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104561DOI Listing
September 2017

An fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine.

J Biol Chem 2017 08 27;292(33):13507-13513. Epub 2017 Jun 27.

From the Cell Biology Program and

Wnt proteins are a family of secreted signaling proteins that play key roles in regulating cell proliferation in both embryonic and adult tissues. Production of active Wnt depends on attachment of palmitoleate, a monounsaturated fatty acid, to a conserved serine by the acyltransferase Porcupine (PORCN). Studies of PORCN activity relied on cell-based fatty acylation and signaling assays as no direct enzyme assay had yet been developed. Read More

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http://dx.doi.org/10.1074/jbc.C117.800136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566510PMC
August 2017
10 Reads

A non-mosaic mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

Mol Genet Metab Rep 2017 Sep 7;12:57-61. Epub 2017 Jun 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Mutations in the gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to post-zygotic mutations in the gene. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2017.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466597PMC
September 2017
16 Reads

Erratum to Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Authors:

Am J Med Genet A 2017 06 19;173(6):1722-1724. Epub 2017 Apr 19.

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http://dx.doi.org/10.1002/ajmg.a.38216DOI Listing
June 2017
2 Reads

Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis.

World J Gastroenterol 2017 Mar;23(12):2246-2250

Eric A Pasman, Pediatric Residency Program, National Capital Consortium, Bethesda, MD 20889, United States.

Focal dermal hypoplasia (FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia. She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis. Read More

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http://dx.doi.org/10.3748/wjg.v23.i12.2246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374137PMC
March 2017
3 Reads

Focal dermal hypoplasia: inheritance from father to daughter.

Clin Exp Dermatol 2017 Jun 10;42(4):457-459. Epub 2017 Apr 10.

Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospital NHS Foundation Trust, Hills Road, Cambridge, UK.

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http://dx.doi.org/10.1111/ced.13047DOI Listing
June 2017
2 Reads

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.

Acta Derm Venereol 2017 Jul;97(7):853-854

Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, 31059 Toulouse cedex 9, France.

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http://dx.doi.org/10.2340/00015555-2648DOI Listing
July 2017
5 Reads

Almost Unilateral Focal Dermal Hypoplasia.

Ann Dermatol 2017 Feb 3;29(1):91-94. Epub 2017 Feb 3.

Department of Dermatology, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Korea.

Focal dermal hypoplasia, caused by mutations in , 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. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Read More

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http://dx.doi.org/10.5021/ad.2017.29.1.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318535PMC
February 2017
9 Reads

Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia.

Pediatr Dermatol 2017 Mar 26;34(2):197-198. Epub 2016 Dec 26.

Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.

Focal dermal hypoplasia (FDH) is an X-linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. Read More

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http://dx.doi.org/10.1111/pde.13056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483175PMC
March 2017
3 Reads

Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG).

J Dermatol 2018 Jan 24;45(1):104-105. Epub 2016 Dec 24.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.1111/1346-8138.13737DOI Listing
January 2018
8 Reads

Focal Dermal Hypoplasia with a Mutation p.E300* of Gene in a Male Infant.

Indian J Dermatol 2016 Nov-Dec;61(6):700

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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 mutation p.E300* in exon 10 of gene with mosaicism, earlier reported in a female of Thai origin. Read More

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http://dx.doi.org/10.4103/0019-5154.193712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302PMC
December 2016
5 Reads

An Unexpected Airway Complication in a Male Patient with Goltz Syndrome.

Case Rep Anesthesiol 2016 18;2016:4659891. Epub 2016 Sep 18.

Penn State Hershey Anesthesia, 500 University Drive, H187, Hershey, PA 17033, USA.

Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight challenges with airway management intraoperatively and postoperatively in patients with Goltz syndrome. Read More

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http://dx.doi.org/10.1155/2016/4659891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046003PMC
September 2016
10 Reads

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Am J Med Genet A 2017 Feb 13;173(2):479-486. Epub 2016 Sep 13.

Faculté de Médecine de Strasbourg, Strasbourg, France.

Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. Although FDH has been described in children and adults, the cardinal signs of the fetal phenotype are not straightforward impacting the quality of the prenatal diagnosis. We describe in depth the ultrasound, radiological, macroscopical, and histological phenotype of three female fetuses with a severe form of FDH, propose a review of the literature and an attempt to delineate minimal and cardinal signs for FDH diagnosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.37974DOI Listing
February 2017
13 Reads

Management of pedal fibrovascular papillomas in Goltz-Gorlin syndrome.

JAAD Case Rep 2016 Jul 5;2(4):304-6. Epub 2016 Aug 5.

Department of Dermatology, University of Texas Medical Branch, Galveston, Texas.

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http://dx.doi.org/10.1016/j.jdcr.2016.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975712PMC
July 2016
38 Reads

Goltz syndrome: a rare case of father-to-daughter transmission.

BMJ Case Rep 2016 Aug 16;2016. Epub 2016 Aug 16.

Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and 'lobster-claw deformity' affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1-3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy. Read More

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http://dx.doi.org/10.1136/bcr-2016-216599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015142PMC
August 2016
12 Reads

Multiple eccrine axillary hidrocystomas.

JAAD Case Rep 2016 May 5;2(3):257-8. Epub 2016 Jul 5.

Department of Dermatology, University Hospitals Case Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.jdcr.2016.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939421PMC
May 2016
4 Reads

[Focal dermal hypoplasia (Goltz-Gorlin syndrome) : The cause is now known].

Authors:
K A Giehl

Hautarzt 2016 Jul;67(7):583-5

Zentrum für seltene und genetische Hautkrankheiten, Klinik und Poliklinik für Dermatologie und Allergologie, Klinikum der Universität München, Ludwig-Maximilians-Universität, Frauenlobstr. 9-11, 80337, München, Deutschland.

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http://dx.doi.org/10.1007/s00105-016-3823-1DOI Listing
July 2016
3 Reads

Gynecologic findings in Goltz syndrome: A case series.

Am J Med Genet C Semin Med Genet 2016 Mar 1;172C(1):64-6. Epub 2016 Feb 1.

There is limited information available related to the gynecologic findings in Goltz syndrome. We report exclusively on external genitalia findings in 17 girls with a known diagnosis of focal dermal hypoplasia. This is the largest series to date. Read More

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http://dx.doi.org/10.1002/ajmg.c.31477DOI Listing
March 2016
7 Reads

Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):59-63

Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. Read More

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http://dx.doi.org/10.1002/ajmg.c.31480DOI Listing
March 2016
4 Reads

Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).

Am J Med Genet C Semin Med Genet 2016 Mar 1;172C(1):29-33. Epub 2016 Feb 1.

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0. Read More

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http://dx.doi.org/10.1002/ajmg.c.31468DOI Listing
March 2016
7 Reads

Blaschkoid Skin Lesions in a Young Girl.

JAMA Dermatol 2016 06;152(6):713-4

The University of Texas at Southwestern Medical Center, Dallas3Children's Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1001/jamadermatol.2016.0061DOI Listing
June 2016
1 Read

Revisiting histopathologic findings in Goltz syndrome.

J Cutan Pathol 2016 May 5;43(5):418-21. Epub 2016 Apr 5.

Department of Dermatology, Yale University, New Haven, CT, USA.

Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant disorder that is classically associated with yellowish papules representing fat herniation (superficial adipocytes). We report a series of three cases, with clinicopathologic correlation of biopsies from Blaschkoid streaks. A range of histopathologic features, including some underreported findings (increased papillary dermal blood vessels, decreased thickness of the dermis, and adipocytes high in the dermis), are reproducible and can strongly point to the correct diagnosis of Goltz syndrome. Read More

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http://dx.doi.org/10.1111/cup.12699DOI Listing
May 2016
3 Reads

Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus.

Indian J Dermatol 2016 Jan-Feb;61(1):104-5

Department of Dermatology, Burdwan Medical College and Hospital, Burdwan, West Bengal, India. E-mail:

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http://dx.doi.org/10.4103/0019-5154.174055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763621PMC
March 2016
28 Reads

A family is born.

Am J Med Genet C Semin Med Genet 2016 Mar 29;172C(1):27-8. Epub 2016 Feb 29.

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http://dx.doi.org/10.1002/ajmg.c.31479DOI Listing
March 2016
6 Reads

Ocular manifestations of genetic skin disorders.

Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.

The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2015.11.008DOI Listing
December 2016
9 Reads

In memoriam--A salute to Dr. Carlos F. Salinas and Dr. Robert Goltz.

Authors:
Mary Fete

Am J Med Genet C Semin Med Genet 2016 Mar 11;172C(1):7-8. Epub 2016 Feb 11.

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http://dx.doi.org/10.1002/ajmg.c.31476DOI Listing
March 2016
4 Reads

The orthopedic characterization of Goltz syndrome.

Am J Med Genet C Semin Med Genet 2016 Mar 11;172C(1):41-3. Epub 2016 Feb 11.

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare condition in which congenital anomalies result in a multitude of defects that affect many systems of the body. These defects can involve the eyes, skin, teeth, and cardiovascular, skeletal, and gastrointestinal systems. There have been many associated abnormalities reported in the literature. Read More

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http://dx.doi.org/10.1002/ajmg.c.31470DOI Listing
March 2016
8 Reads

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

Am J Med Genet C Semin Med Genet 2016 Mar 9;172C(1):44-51. Epub 2016 Feb 9.

Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. Read More

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http://dx.doi.org/10.1002/ajmg.c.31472DOI Listing
March 2016
18 Reads

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

Am J Med Genet C Semin Med Genet 2016 Mar 7;172C(1):9-20. Epub 2016 Feb 7.

Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. Read More

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http://doi.wiley.com/10.1002/ajmg.c.31473
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http://dx.doi.org/10.1002/ajmg.c.31473DOI Listing
March 2016
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Oral phenotype and variation in focal dermal hypoplasia.

Am J Med Genet C Semin Med Genet 2016 Mar 3;172C(1):52-8. Epub 2016 Feb 3.

Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Read More

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http://dx.doi.org/10.1002/ajmg.c.31478DOI Listing
March 2016
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International research symposium on Goltz syndrome.

Am J Med Genet C Semin Med Genet 2016 Mar 1;172C(1):3-6. Epub 2016 Feb 1.

The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and family-oriented symposium was sponsored by the National Foundation for Ectodermal Dysplasias, Baylor College of Medicine and Texas Children's Hospital. Goltz syndrome, or Focal Dermal Hypoplasia (FDH), is a highly variable X-linked dominant disorder with abnormalities in tissues derived from the ectoderm and mesoderm. Read More

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http://dx.doi.org/10.1002/ajmg.c.31475DOI Listing
March 2016
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Genetically engineered mouse models to evaluate the role of Wnt secretion in bone development and homeostasis.

Authors:
Bart O Williams

Am J Med Genet C Semin Med Genet 2016 Mar 28;172C(1):24-6. Epub 2016 Jan 28.

Alterations in components of the Wnt signaling pathway are associated with altered bone development and homeostasis in several human diseases. We created genetically engineered mouse models (GEMMs) that mimic the cellular defect associated with the Porcupine mutations in patients with Goltz Syndrome/Focal Dermal Hypoplasia. These GEMMs were established by utilizing mice containing a conditionally inactivatable allele of Wntless/GPR177 (a gene encoding a protein required for the transport of Porcupine-modified ligand to the plasma membrane for secretion). Read More

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http://dx.doi.org/10.1002/ajmg.c.31474DOI Listing
March 2016
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Cognitive and psychological functioning in focal dermal hypoplasia.

Am J Med Genet C Semin Med Genet 2016 Mar 28;172C(1):34-40. Epub 2016 Jan 28.

Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts the primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, and vision and hearing. Read More

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http://dx.doi.org/10.1002/ajmg.c.31471DOI Listing
March 2016
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Goltz syndrome and PORCN: A view from Europe.

Authors:
Rudolf Happle

Am J Med Genet C Semin Med Genet 2016 Mar 22;172C(1):21-3. Epub 2016 Jan 22.

Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant, multisystem birth defect with lethality for male embryos. The hypoplastic skin lesions follow Blaschko's lines and often show herniation of subcutaneous fatty tissue. Extracutaneous defects mainly involve the brain, the bones, the teeth, and the eyes. Read More

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http://dx.doi.org/10.1002/ajmg.c.31469DOI Listing
March 2016
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