443 results match your criteria Focal Dermal Hypoplasia Syndrome

Novel uses of laser therapy in Goltz syndrome.

Dermatol Ther 2022 May 17;35(5):e15371. Epub 2022 Feb 17.

Department of Dermatology, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain.

Goltz syndrome is an X-linked dominant, multisystem birth defect due to PORCN mutation. The skin findings follow Blaschko's lines and often show epidermal atrophy and herniation of subcutaneous fatty tissue. Regarding treatment, light sources can offer a good therapeutic option for some manifestations of this rare disease and improve the aesthetic appearance of the skin lesions. Read More

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Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

Orphanet J Rare Dis 2022 01 31;17(1):29. Epub 2022 Jan 31.

Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.

Background: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples. Generally, GS is associated with in utero lethality in males and most of the reported male patients show mosaicism (only three non-mosaic surviving males have been described so far). Read More

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January 2022

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Congenit Anom (Kyoto) 2022 Mar 3;62(2):68-77. Epub 2022 Jan 3.

Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. Read More

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Angioma-serpiginosum-like and hyperkeratotic lesion in a patient with Goltz syndrome.

J Cutan Pathol 2021 Dec 20. Epub 2021 Dec 20.

Department of Research, Institute for Biomedical Research of A Coruña (INIBIC), University of A Coruña (UDC), A Coruña, Spain.

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December 2021

Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.

J Cell Sci 2021 12 20;134(24). Epub 2021 Dec 20.

Programme in Cancer and Stem Cell Biology, Duke-NUS Medical School, 169857, Singapore.

Wnt signaling is essential for normal development and is a therapeutic target in cancer. The enzyme PORCN, or porcupine, is a membrane-bound O-acyltransferase (MBOAT) that is required for the post-translational modification of all Wnts, adding an essential mono-unsaturated palmitoleic acid to a serine on the tip of Wnt hairpin 2. Inherited mutations in PORCN cause focal dermal hypoplasia, and therapeutic inhibition of PORCN slows the growth of Wnt-dependent cancers. Read More

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December 2021

Odyssey toward an understanding of acquired postinflammatory lentiginosis.

Albert C Yan

Curr Opin Pediatr 2021 12;33(6):704-708

Section of Dermatology, Children's Hospital of Philadelphia, Departments of Pediatrics and Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Purpose Of Review: Acquired postinflammatory lentiginosis is a phenomenon that has been previously termed 'induction of lentiginosis in assorted dermatoses' or the ILIAD phenomenon.

Recent Findings: Although some cases have been described as arising exclusively in those who applied topical calcineurin inhibitors (TCIs), other patients have presented with similar findings in other nonatopic disorders (contact dermatitis, psoriasis, lichen planus, focal dermal hypoplasia), and without antecedent use of TCIs.

Summary: Inflammatory skin disorders can produce localized areas of cutaneous lentiginosis, particularly as the inflammation retreats in response to treatment. Read More

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December 2021

Determination of the membrane topology of PORCN, an O-acyl transferase that modifies Wnt signalling proteins.

Open Biol 2021 06 30;11(6):200400. Epub 2021 Jun 30.

Department of Biology, San Francisco State University, 1600 Holloway Avenue, San Francisco, CA 94132, USA.

Wnt gradients elicit distinct cellular responses, such as proliferation, specification, differentiation and survival in a dose-dependent manner. Porcupine (PORCN), a membrane-bound O-acyl transferase (MBOAT) that resides in the endoplasmic reticulum, catalyses the addition of monounsaturated palmitate to Wnt proteins and is required for Wnt gradient formation and signalling. In humans, PORCN mutations are causal for focal dermal hypoplasia (FDH), an X-linked dominant syndrome characterized by defects in mesodermal and endodermal tissues. Read More

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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

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.

Am J Med Genet A 2021 01 27;185(1):250-255. Epub 2020 Oct 27.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations, corresponding, respectively, to absent eyeball or reduced size of the eye. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome. Genetic heterogeneity has been demonstrated, and many genes have been reported to be associated with A/M. Read More

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January 2021

Tonsillar fat herniation: A novel finding in Goltz syndrome.

Indian J Dermatol Venereol Leprol 2020 Nov-Dec;86(6):691-693

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.

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September 2021

A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature.

J Med Cases 2020 Mar 26;11(3):61-64. Epub 2020 Mar 26.

Launceston General Hospital, Launceston, Tasmania, Australia.

Focal dermal hypoplasia (Goltz syndrome), is an exceedingly rare X-linked dominant genetic disorder. It is a multisystem disease, but it is hallmarked by characteristic skin changes. Focal dermal hypoplasia typically occurs in females (90%), and males are thought to only survive through having either a sporadic new mutation or somatic mosaicism. Read More

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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