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    388 results match your criteria Focal Dermal Hypoplasia Syndrome

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    Naevus Lipomatosus Cutaneous Superficialis.
    Indian J Dermatol Venereol Leprol 1982 Sep-Oct;48(5):282-286
    A case of naevus lipomatosus cutaneous superficilis on the left sacro gluteo-coxal area in a 25 year old male is reported because of its rarity. The clinical features and hisoopathological changes of this condition are described. The possible factors regarding its predilection to the pelvic girdle region, the various theories regarding, its pathogensis and its differentiation from focal dermal. Read More

    Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia.
    Pediatr Dermatol 2016 Dec 26. 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

    Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN 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 de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. Read More

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Genetically engineered mouse models to evaluate the role of Wnt secretion in bone development and homeostasis.
    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

    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

    Goltz syndrome and PORCN: A view from Europe.
    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

    Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.
    Congenit Anom (Kyoto) 2016 May;56(3):138-140
    Department of Basic Sciences, Icesi University, Cali, Colombia.
    Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia. Read More

    Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature.
    Head Neck Pathol 2016 Jun 17;10(2):188-91. Epub 2015 Nov 17.
    Division of Otolaryngology-Head and Neck Surgery, Department of Surgery, The Pennsylvania State University, College of Medicine, 500 University Drive, H091, Hershey, PA, 17033-0850, USA.
    Focal dermal hypoplasia (Goltz syndrome; GS) is an X-linked dominant disorder caused by a mutation in the porcupine homolog (PORCN) gene and is typically embryonically lethal for males. The presence of disease in males is usually the result of post-zygotic mutation, but may also be due to mosaicism. The presentation of this disorder is highly variable, but generally is characterized by cutaneous, skeletal, ocular, oral, dental, and aural defects. Read More

    Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.
    Fetal Pediatr Pathol 2015 16;34(6):375-82. Epub 2015 Oct 16.
    b Service of Pediatrics , Hospital San Agustin , Avilés , Spain.
    Focal dermal hypoplasia (FDH) is a rare multisystem disorder characterized by abnormalities in tissues derived from the meso-ectoderm, mainly affecting the skin, eyes, teeth and skeleton. We present the case of a young girl with FDH due to de novo mutation c.1061T>C (p. Read More

    Genet Couns 2015 ;26(2):195-204
    Focal dermal hypoplasia (FDH), an X-linked dominant disease with a highly variable phenotype, presents mainly with congenital linear pigmentation of the skin, herniation of fat through the dermal defects and multiple papillomas. PORCNmicrodeletions are identified in a total of 12 FDH patients to date. Routine molecular methods for detecting microdeletions have proven not to be effective, as patients also carry a normal allele. Read More

    Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
    J Hum Genet 2015 Nov 27;60(11):717-22. Epub 2015 Aug 27.
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
    Setleis syndrome, focal facial dermal dysplasia type III (FFDD3, MIM #227260), is characterized by scar-like bitemporal lesions and other ocular and facial dysmorphic features. The syndrome results from recessive mutations in the TWIST2 gene, encoding a basic helix-loop-helix transcription factor or de novo genomic duplication or triplication, which include 1.3 Mb at 1p36. Read More

    Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia.
    Case Rep Dermatol 2015 May-Aug;7(2):90-4. Epub 2015 May 19.
    Department of Dermatology, University Hospital Basel, Basel, Switzerland ; Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
    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. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Read More

    Aplasia cutis congenita: report of 22 cases.
    Int J Dermatol 2015 Dec 27;54(12):1370-5. Epub 2015 May 27.
    Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia.
    Background: Aplasia cutis congenita (ACC) is a rare malformation characterized by absent or scarred areas of skin at birth. Although most commonly found on the scalp, ACC can also involve other locations. Its etiology and pathogenesis remain unclear. Read More

    Goltz syndrome: a newborn with ectrodactyly and skin lesions.
    Indian J Dermatol 2015 Mar-Apr;60(2):215
    Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India.
    Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Read More

    Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
    Am J Med Genet A 2015 May 27;167A(5):1061-70. Epub 2015 Feb 27.
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
    Focal facial dermal dysplasias (FFDD) are characterized by congenital bitemporal or preauricular atrophic skin lesions, and either autosomal dominant or autosomal recessive inheritance. Setleis syndrome (SS), FFDD type III, is a severe form of FFDD with the ectodermal lesions plus other striking facial features. Autosomal recessive nonsense and frameshift mutations in TWIST2 have been found to cause SS in some but not all individuals. Read More

    Focal dermal hypoplasia: a rare case report.
    Indian J Dermatol 2015 Jan-Feb;60(1):106
    Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, India.
    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 macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. Read More

    Delleman Oorthuys syndrome.
    Middle East Afr J Ophthalmol 2015 Jan-Mar;22(1):122-4
    Department of Ophthalmology, Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.
    Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Read More

    Oesophageal duplication cysts, a rare cause of neck lump treated by ultrasound guided drainage: case report and review of the literature.
    Eur Arch Otorhinolaryngol 2015 Jun 28;272(6):1543-6. Epub 2014 Dec 28.
    Department of ENT, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF, UK,
    Oesophageal duplication cysts are a rare congenital anomaly of the foregut which usually present in infancy with respiratory symptoms, recurrent pneumonia and feeding difficulty. Other presenting symptoms depend on the location of the cyst and can include dysphagia, chest pain, arrhythmias and features of mediastinal compression. Treatment is usually surgical resection, recommended for complete resolution of symptoms, histological diagnosis and exclusion of malignancy. Read More

    A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells.
    Cell Rep 2014 Dec 20;9(5):1770-80. Epub 2014 Nov 20.
    Stem Cell Program, Sanford Consortium for Regenerative Medicine, Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92093, USA. Electronic address:
    WNT signaling promotes the reprogramming of somatic cells to an induced pluripotent state. We provide genetic evidence that WNT signaling is a requisite step during the induction of pluripotency. Fibroblasts from individuals with focal dermal hypoplasia (FDH), a rare genetic syndrome caused by mutations in the essential WNT processing enzyme PORCN, fail to reprogram with standard methods. Read More

    Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.
    Am J Pathol 2015 Jan 3;185(1):197-213. Epub 2014 Nov 3.
    Departments of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah. Electronic address:
    Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is frequently accompanied by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia. Read More

    Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
    Clin Genet 2015 Nov 11;88(5):489-93. Epub 2014 Dec 11.
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
    Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported. Read More

    Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review.
    Dermatol Online J 2014 Aug 17;20(8). Epub 2014 Aug 17.
    University of California San Diego.
    Background: Basal cell carcinoma of the axilla, an area that is not usually exposed to the sun, is rare. Individuals with basal cell nevus syndrome, a disorder associated with a mutation in the patch 1 (PTCH1) gene, develop numerous basal cell carcinomas.

    Purpose: To describe a woman with basal cell nevus syndrome who developed a pigmented basal cell carcinoma in each of her axilla and to review the features of axillary basal cell carcinoma patients with Goltz-Gorlin syndrome. Read More

    Palmitoylation and depalmitoylation defects.
    J Inherit Metab Dis 2015 Jan 5;38(1):179-86. Epub 2014 Aug 5.
    Institute for Clinical Chemistry, University Hospital Zurich, Raemistrasse 100, CH-8091, Zurich, Switzerland,
    Palmitoylation describes the enzymatic attachment of a 16-carbon atom fatty acid to a target protein. Such lipidation events occur in all eukaryotes and can be of reversible (S-palmitoylation) or irreversible (N-palmitoylation) nature. In particular S-palmitoylation is dynamically regulated by two opposing types of enzymes which add (palmitoyl acyltransferases - PAT) or remove (acyl protein thioesterases) palmitate from proteins. Read More

    Goltz syndrome and PORCN mosaicism.
    Int J Dermatol 2014 Dec 11;53(12):1481-4. Epub 2014 Jul 11.
    Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
    Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Read More

    Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
    Eur J Hum Genet 2015 Apr 16;23(4):551-4. Epub 2014 Jul 16.
    Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
    Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. Read More

    [Alterations in nails and teeth as a clue for genodermatoses].
    Hautarzt 2014 Jun;65(6):513-9
    Dermatologie Universitätsspital Basel, Petersgraben 4, 4031, Basel, Schweiz,
    Background: There are about 10,000 monogenic diseases and around 30% demonstrate alterations in the skin and its appendages. As there are so many genetic different skin diseases, clear diagnosis is often very difficult.

    Aim: The goal of this review is to give the clinicians some key features on nails and teeth which might help to identify rare genodermatoses. Read More

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