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C Goecke, C Mellado, C García, H García
BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur...
February 2018: Revista Chilena de Pediatría
Ibis Menendez, Claudia Carranza, Mariana Herrera, Nely Marroquin, Joseph Foster, Filiz Basak Cengiz, Guney Bademci, Mustafa Tekin
Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho-osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.
April 2017: Clinical Case Reports
C Prodinger, A Klausegger, A Diem, J W Bauer, M Laimer
No abstract text is available yet for this article.
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia and Schöpf-Schulz-Passarge syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
Yubao Gong, Chen Yang, Yang Liu, Jianguo Liu, Xin Qi
Hereditary onycho-osteodysplasia, also known as nail-patella syndrome (NPS), is a rare genetic disorder that is primarily characterized by poorly developed nails and patella. Patients with NPS frequently suffer from patellar instability that requires surgical management. The present case report describes a 25-year-old man with NPS. The patient presented with left knee pain and was found to have recurrent left patellar dislocation. The knee pain was first reported 1-year after a minor knee trauma incident. Following complete evaluation, a diagnosis of NPS was reached...
June 2016: Experimental and Therapeutic Medicine
Anne Bruun Krøigård, Ole Clemmensen, Hans Gjørup, Jens Michael Hertz, Anette Bygum
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). CASE PRESENTATION: We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD...
March 10, 2016: BMC Dermatology
Ashik Mohamed, Virender S Sangwan
No abstract text is available yet for this article.
August 2017: Ocular Immunology and Inflammation
Daisuke Watabe, Koki Endoh, Fumihiko Maeda, Toshihide Akasaka, Mikiya Endoh
No abstract text is available yet for this article.
September 2015: European Journal of Dermatology: EJD
Mohammadreza Barzegar, Zahra Asadi-Kani, Nikoo Mozafari, Hassan Vahidnezhad, Ariana Kariminejad, Parviz Toossi
BACKGROUND: Immunofluorescence antigen mapping (IFM), is a newly introduced technique for diagnosis and classification of epidermolysis bullosa (EB) disease. The precise level of skin cleavage can be determined using monoclonal antibodies to EB-specific basement membrane zone protein. OBJECTIVE: To apply IFM technique in diagnosis and classification of EB and to identify utility and limitation of this method in our clinical setting. METHODS: IFM was done according to a described protocol by Pohla-Gubo et al...
October 2015: International Journal of Dermatology
H Backaert, C E L Carels
In the literature many different mutations of the WNT10A-gene have been described in relation to the prevalence of tooth agenesis. Such mutations can result in strongly divergent phenotypes. Clinically a single phenotype can lead to either simple hypodontia or to comprehensive syndromatic disorders. Both the Schöpf-Schulz-Passarge syndrome (SPSS) and odonto-onycho-dermal dysplasia (OODD) as well as isolated tooth agenesis have been associated with mutations of this gene. If the WNT10A-gene were to be included in DNA-tests, it has been predicted that 70% of the cases of isolated hypodontia could be explained by a WNT10A-gene mutation...
November 2014: Nederlands Tijdschrift Voor Tandheelkunde
Chihiro Nakayama, Yasuyuki Fujita, Mika Watanabe, Hiroshi Shimizu
Ustekinumab is a human monoclonal antibody that specifically binds to the p40 subunit of interleukin (IL)-12 and IL-23, inhibiting the activity of both cytokines, thereby blocking the T-helper (Th)1 and Th17 inflammatory pathways. While biologic agents have dramatically changed the strategies of psoriasis treatment, increasing cases of autoimmune diseases during the use of such agents have been reported. We experienced a case of bullous pemphigoid occurring during treatment of a rare variant of psoriatic arthritis, psoriatic onycho-pachydermo periostitis with ustekinumab...
October 2015: Journal of Dermatology
Gabriele Mues, John Bonds, Lilin Xiang, Alexandre R Vieira, Figen Seymen, Ophir Klein, Rena N D'Souza
Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35-50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40% had at least one mutation in the WNT10A gene. The WNT10A Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP databases for Caucasian populations...
October 2014: American Journal of Medical Genetics. Part A
P Kantaputra, M Kaewgahya, D Jotikasthira, W Kantaputra
We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles...
April 2014: American Journal of Medical Genetics. Part A
Christian P Vink, Charlotte W Ockeloen, Sietske ten Kate, David A Koolen, Johannes Kristian Ploos van Amstel, Anne-Marie Kuijpers-Jagtman, Celeste C van Heumen, Tjitske Kleefstra, Carine E L Carels
This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in all affected family members and the associated symptoms are presented with emphasis on the dentofacial phenotypes obtained with inter alia three-dimensional facial stereophotogrammetry...
September 2014: European Journal of Human Genetics: EJHG
Francisco Del Piñal, Eduardo Moraleda, Guillermo H de Piero, Jaime S Ruas, Carlos Galindo
PURPOSE: To present our experience in distal thumb amputations reconstructed by partial toe to hand transfers with special emphasis on manual workers. METHODS: Twenty-five patients who experienced amputation of the thumb distal to the interphalangeal joint, excluding pure soft tissue losses, were included in the study. All but 2 were manual workers. Twenty were reconstructed within 2 weeks after injury. The other 5 were referred late. In all patients, the ipsilateral hallux was used as donor, based on the proper digital artery (18 cases), the intermetatarsal artery (6 cases), and the dorsalis pedis artery (1 case)...
January 2014: Journal of Hand Surgery
Georgios E Romanos, Jørgen Slots, Fawad Javed
The periodontal status of patients with laryngo-onycho-cutaneous syndrome is unknown. This study describes a case of severe aggressive periodontitis in a 19-year-old American-Pakistani female with laryngo-onycho-cutaneous syndrome. The patient showed abundant dental plaque and calculus accumulations, suppuration and hemorrhage from virtually all gingivae and interdental papillae, and extensive radiographic alveolar bone loss and vertical mobility of several teeth. Subgingival plaque samples revealed a variety of major periodontal pathogens...
2013: Journal of Oral Science
Huiying He, Dong Han, Hailan Feng, Hong Qu, Shujuan Song, Baojing Bai, Zhenting Zhang
BACKGROUND: Dental agenesis is the most common, often heritable, developmental anomaly in humans. Although WNT10A gene mutations are known to cause rare syndromes associated with tooth agenesis, including onycho-odontodermal dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS), hypohidrotic ectodermal dysplasia (HED), and more than half of the cases of isolated oligodontia recently, the genotype-phenotype correlations and the mode of inheritance of WNT10A mutations remain unclear...
2013: PloS One
S Lippacher, E Mueller-Rossberg, H Reichel, M Nelitz
Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellaeca causing knee instability and pain. Although most existing literature regarding the knee manifestation of this syndrome has focused on the clinically and radiological changes, only a few articles discussed the surgical treatment...
October 2013: Orthopaedics & Traumatology, Surgery & Research: OTSR
M Barzegar, N Mozafari, A Kariminejad, Z Asadikani, L Ozoemena, J A McGrath
Laryngo-onycho-cutaneous (LOC) syndrome is a subtype of autosomal recessive junctional epidermolysis bullosa in which there is prominent skin and mucosal granulation tissue that can lead to delayed wound healing, laryngeal obstruction and blindness. Thus far, all cases are of Punjabi ancestry and have been shown to result from a founder mutation in the LAMA3 gene, notably involving a single nucleotide insertion mutation in exon 39, which is specific to the LAMA3A (designated exon 1 of LAMA3A) and not the LAMA3B1 or LAMA3B2 isoforms...
December 2013: British Journal of Dermatology
Sarath Bethapudi, Jill Halstead, Zoe Ash, Dennis McGonagle, Andrew J Grainger
No abstract text is available yet for this article.
March 2014: Skeletal Radiology
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