Clouston syndrome: first case in Russia.
Ontology highlight
ABSTRACT:
SUBMITTER: Marakhonov A
PROVIDER: S-EPMC3776650 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Publications
Clouston syndrome: first case in Russia.
Marakhonov Av A Skoblov Myu M Galkina Va V Zinchenko Ra R
Balkan journal of medical genetics : BJMG 20120601 1
Hidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and palmoplantar hyperkeratosis. Here we describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case. ...[more]
Similar Datasets
Project description:Nakajo-Nishimura syndrome is a hereditary autoinflammatory disorder caused by an autosomal recessive homozygous mutation of the PSMB8 gene, which encodes the immunoproteasome subunit beta 5i. The clinical manifestations of NNS are mainly pernio-like skin rashes, nodular erythema, lipodystrophy, clubbed fingers, remittent fever, hepatosplenomegaly, and basal ganglia calcifications. Here we are reporting a case of NNS in an 11-year-old girl, who lives in eastern Algeria, born from a first-degree consanguineous marriage, she presented with erythematous patches on her face and her back, nodular erythema on her neck, swollen and painful fingers with acrocyanosis and recurrent fever that mainly occurred in cold weather. The patient received long-term treatment with low-dose glucocorticoids, along with immunomodulatory drugs (hydroxychloroquine with methotrexate), partial improvement clinically and biologically was observed. Colchicine was added to her treatment, with increased prednisone doses when she recently developed an AA amyloidosis. Our patient was diagnosed clinically with a probable NNS because she exhibited six of the eight characteristics. To the best of our knowledge, this is the first case of NNS in Africa.
| S-EPMC10466351 | biostudies-literature
Project description:Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient's precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.
| S-EPMC8505036 | biostudies-literature
Project description:Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ENT) manifestations, in association with mild to moderate intellectual disability and autism or autism spectrum disorder-like behaviour. The diagnosis of Myhre syndrome is established corroborating the clinical findings with SMAD4 heterozygous mutation identified in the majority of the patients. SMAD4 gene mutations result in abnormal TGF-β signalling in several cell types, which affects the development of several body systems and leads to the specific phenotype of Myhre syndrome. We herein report the case of an 18-year-old female patient who was diagnosed at the age of 17 years with Myhre syndrome, the first documented case of this syndrome in Romania. Sequence analysis of protein-coding genes using whole-exome analysis identified a 'de novo', heterozygous missense variant of SMAD4, c.1498A>G, p. (Ile500Val), which is pathogenic for Myhre syndrome. Although this condition is rare, a series of particularities were identified in the present case, consisting of severe allergic reactions, recurrent ENT tumour development and delayed dental eruption, which have not been described in Myhre syndrome to date, to the best of the authors' knowledge.
| S-EPMC8972842 | biostudies-literature
Project description:Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the mechanism underlying GPS-specific clinical features.
| S-EPMC5972145 | biostudies-literature
Project description:Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections. His immune workup revealed hypogammaglobulinemia, and clinical exome sequencing revealed a novel intronic variant in WAC (c.1437+1G>A). To the best of our knowledge, this is the first case of DESSH in South America, underlining the accumulating evidence of the significant role of WAC haploinsufficiency in neurobehavioral phenotypes. Although this report suggested the potential involvement of WAC in immune regulation, additional reports are required to confirm our observations.
| S-EPMC6006642 | biostudies-literature
Project description:A population of the criconematid species, identified as Criconema demani (Micoletzky, 1925), is reported from a natural habitat in northwestern Russia. Measurements and morpho-anatomy obtained with light microscopy and molecular characterization of this population are included in this paper.A population of the criconematid species, identified as Criconema demani (Micoletzky, 1925), is reported from a natural habitat in northwestern Russia. Measurements and morpho-anatomy obtained with light microscopy and molecular characterization of this population are included in this paper.
| S-EPMC6929652 | biostudies-literature
Project description:H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs' syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs' syndrome.
| S-EPMC8055247 | biostudies-literature
Project description:Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous. Heterozygous variants in SF3B4 on chromosome 1q21 are found in approximately 60% of patients. Here, we report a first patient from Georgia diagnosed with Nager syndrome with detailed description of its clinical manifestations and diagnosis.
| S-EPMC9751155 | biostudies-literature
Project description:This article analyzes some recent developments in the system of public law in the Russian Federation, focusing in particular on changing patterns of litigation and increases in use of administrative law, linked to new acts of legislation. It argues that discussion of the Russian case provides a sociological perspective in which we can understand the importance of legal actions in hybrid polities. It explains that litigation in Russia, even where it may have counter-systemic outcomes, is partly incentivized by the government, as promotion of access to law is seen as a means to formalize interactions between citizens and government and so to extend the societal penetration of the political system more generally. Litigation thus forms a mode of practice that, dialectically, possesses both inner- and counter-systemic status. In addition, the article argues that the case of Russia allows us to comprehend litigation as an element in processes of nation building and social integration more widely, and Russia illuminates the systemic significance of litigation in other societies.
| S-EPMC6182380 | biostudies-other
Project description:IntroductionSilent sinus syndrome is a rare disorder that presents a diagnostic challenge, most of the patients with this syndrome present with ophthalmological complaints without any nasal sinus symptoms, and it has a painless course and slow development. The syndrome can be diagnosed clinically and confirmed radiologically, and CT imaging is considered the gold standard for its diagnosis. The classical radiographic findings are opacification and collapse of the sinus walls. Functional endoscopic sinus surgery (FESS) is the standard gold treatment of choice to arrest the progression of the disease.Presentation of caseA case report of a 37-years-old-female who was complaining of severe throbbing pain since 2009, is presented here where the diagnosis of SSS was obtained in 2018, this delay in diagnosing the situation had affected the patient lifestyle tremendously.DiscussionAccordingly, knowledge of the signs and features of SSS can result in an accurate diagnosis. Suspected cases of silent sinus syndrome require prompt ear, nose, and throat referral for consideration of definitive diagnosis and surgical management. Nasal endoscopy and clinical evaluation are also essential for the diagnosis.ConclusionOur recommendation is to consider SSS as a differential diagnosis for patients with spontaneous enophthalmos and hypoglobus, even in the absence of maxillary sinus opacification. Moreover, encourage all the specialists in the medical and the dental field to communicate well together in cases like this.
| S-EPMC7452470 | biostudies-literature