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Cutis laxa

Pooja Arora, Payal Chakravarty, Deepshikha Khanna, Ruchika Gupta
No abstract text is available yet for this article.
September 2016: Indian Dermatology Online Journal
Peng Sang, Wei Hu, Yu-Jia Ye, Lin-Hua Li, Chao Zhang, Yue-Hui Xie, Zhao-Hui Meng
Pyrroline-5-carboxylate reductase (P5CR) encoded by PYCR1 gene is a housekeeping enzyme that catalyzes the reduction of P5C to proline using NAD(P)H as the cofactor. In this study, we used in silico approaches to examine the role of nonsynonymous single-nucleotide polymorphisms in the PYCR1 gene and their putative functions in the pathogenesis of Cutis Laxa. Among the 348 identified SNPs, 15 were predicted to be potentially damaging by both SIFT and PolyPhen tools; of them two SNP-derived mutations, R119G and G206W, have been previously reported to correlate with Cutis Laxa...
September 27, 2016: Journal of Biomolecular Structure & Dynamics
Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Rachel Straussberg
Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis)...
October 2016: Neurogenetics
Tina Vajdi, Wiggin Wu Lee, Taraneh Paravar
Penicillamine-induced skin changes are rare and include: hypersensitivity reactions, autoimmune reactions, and cutaneous elastoses. We report a case of a 73-year-old man with cystinuria taking penicillamine for over 50 years who presented with penicillamine-induced cutis laxa and milia en plaque. A brief review of penicillamine induced skin changes, specifically cutis laxa and milia en plaque, is presented.
2016: Dermatology Online Journal
Mohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, Stefan Mundlos, Malte Spielmann, Uwe Kornak, Björn Fischer-Zirnsak
Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. 1q24 deletions underlie a spectrum of disorders with intellectual disability and ear abnormalities as phenotypic hallmarks. Here we report on an individual from Azerbaijan originating from a non-consanguineous couple showing short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability...
September 8, 2016: Journal of Human Genetics
Elodie Bou-Assi, Bertille Bonniaud, Marianne Grimaldi, Laurence Faivre, Pierre Vabres
We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.
September 7, 2016: Pediatric Dermatology
Insa Bultmann-Mellin, Jeroen Essers, Paula M van Heijingen, Harald von Melchner, Gerhard Sengle, Anja Sterner-Kock
LTBP‑4L and LTBP‑4S are two isoforms of the extracellular matrix protein latent transforming growth factor β-binding protein 4 (LTBP‑4). The mutational inactivation of both isoforms causes autosomal recessive cutis laxa type 1C (ARCL1C) in humans and an ARCL1C‑like phenotype in Ltbp4(‑/-) mice, both characterized by high postnatal mortality and severely affected elastogenesis. However, genetic data in mice suggest isoform-specific functions for Ltbp-4 because Ltbp4S(‑/-) mice, solely expressing Ltbp‑4L, survive to adulthood...
September 1, 2016: Disease Models & Mechanisms
D Lipsker
Some dermatologic entities are strongly associated with the presence of a monoclonal gammopathy. They should be referred to as monoclonal gammopathy of cutaneous significance (MGCS). A short review of the main entities that fit into the spectrum of MGCS is provided. Amyloidosis, macroglobulinoderma and follicular hyperkeratotic spicules result from extravascular immunoglobulin or immunoglobulin-related protein deposition. Skin findings include papules and plaques, follicular spicules, purpura, haemorrhagic bullae, macroglossia and nail changes...
August 8, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Léa Moulin, Valérie Cenizo, Alengo Nyamay Antu, Valérie Andre-Frei, Sabine Pain, Pascal Sommer, Romain Debret
Lysyl oxidase-like 1 (LOXL1) is an amino-oxidase involved in maturation of elastic fibres. Its downregulation has been associated with elastic fibres repair loss in ageing aorta, lung, ligament and skin. Several evidences of LOXL1 epigenetic silencing by promoter methylation were reported in cancer and cutis laxa syndrome. We hypothesised that this mechanism could be implicated in skin ageing process, as far as elastic fibres are also concerned. Anti-DNMT3A chromatin immuno-precipitation was conducted with nuclear extracts from skin fibroblasts isolated from young and elderly individuals, and showed a higher level of DNMT3A protein binding to the LOXL1 promoter in older cells concomitantly to the decrease of LOXL1 mRNA expression and the increase of LOXL1 promoter methylation...
July 10, 2016: Rejuvenation Research
Takako Sasaki, Franz-Georg Hanisch, Rainer Deutzmann, Lynn Y Sakai, Tetsushi Sakuma, Tatsuo Miyamoto, Takashi Yamamoto, Ewald Hannappel, Mon-Li Chu, Harald Lanig, Klaus von der Mark
Fibulin-4 is a 60kDa calcium binding glycoprotein that has an important role in development and integrity of extracellular matrices. It interacts with elastin, fibrillin-1 and collagen IV as well as with lysyl oxidases and is involved in elastogenesis and cross-link formation. To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. The pathogenetic mechanisms how these mutations translate into the clinical phenotype are, however, poorly understood...
June 23, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
Rie Harboe Nygaard, Scott Maynard, Peter Schjerling, Michael Kjaer, Klaus Qvortrup, Vilhelm A Bohr, Lene J Rasmussen, Gregor B E Jemec, Michael Heidenheim
Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with microscopy, polymerase chain reaction, western blotting and cell culture experiments. Skin from the affected area lacked elastin fibers in electron microscopy but had higher mRNA expression of elastin and total RNA...
January 2016: Case Reports in Dermatology
Simonetta Rosato, Delfien Syx, Ivan Ivanovski, Marzia Pollazzon, Daniela Santodirocco, Loredana De Marco, Marina Beltrami, Bert Callewaert, Livia Garavelli, Fransiska Malfait
Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis), based on the clinical features of the first identified family; however, with the expansion of the clinical phenotype in additional families, it was subsequently coined RIN2 syndrome...
September 2016: American Journal of Medical Genetics. Part A
Piyush Kumar, Sushil S Savant, Anupam Das
Cutis laxa, clinically characterized by loose and pendulous skin related to loss of elastic tissue, is a rare heterogeneous condition. It is classified into congenital and acquired types. We report a case of generalized acquired cutis laxa type 1 in a young man following pruritic urticarial plaques. We have done a brief review of literature.
2016: Dermatology Online Journal
Lance H Rodan, Gerard T Berry
Transaldolase deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway that presents clinically with infantile-onset hepatopathy progressing to cirrhosis, nephropathy, connective tissue abnormalities resembling cutis laxa, coagulopathy, cytopenias, and increased risk of hepatocellular carcinoma. In many cases, death occurs in infancy or early childhood. There is no established treatment for transaldolase deficiency in humans. Recent work in a knockout mouse model of transaldolase deficiency has demonstrated a benefit to supplementation with the glutathione precursor N-acetylcysteine (NAC)...
April 30, 2016: JIMD Reports
Mao-zhong Tai, Xue-jian Liu, Zhong-ping Qin, Chun-xiao Ge, Ke-lei Li, Tao Chen
PURPOSE: To summarize the subsequent therapy experiences for infantile hemangiomas after discontinuation of oral propranolol treatment, and explore the relationships between clinical interventions and types of infantile hemangioma. METHODS: In this retrospective study from January 2010 to May 2014, a total of 137 infants with hemangiomas undergoing sequential therapy after oral propranolol treatment. There were 41 males and 96 females. The median age was 16 months, ranging from 14 to 25 months...
December 2015: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
Konakanchi Venkatachalam, Kavya Chennamsetty
Elastosis perforans serpiginosa (EPS), characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1) Idiopathic; (2) reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3) the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature...
March 2016: Indian Dermatology Online Journal
Anas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, Amal Alhashem, Muneera Alshammari, Fatema Alzahrani, Mohammed S Al-Dosari, Nisha Patel, Afaf Alsagheir, Bassam Binabbas, Hamad Alzaidan, Abdulmonem Alsiddiky, Nasser Alharbi, Majid Alfadhel, Amal Kentab, Riza M Daza, Martin Kircher, Jay Shendure, Mais Hashem, Saif Alshahrani, Zuhair Rahbeeni, Ola Khalifa, Ranad Shaheen, Fowzan S Alkuraya
Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary disorders of connective tissue that do not seem to fit these historical subtypes exist. The aim of this study is to describe a large series of patients with inherited connective tissue disorders evaluated by our clinical genetics service and for whom a likely causal variant was identified...
May 2016: Human Genetics
Abhijit Dutta, Sudip Kumar Ghosh, Arghyaprasun Ghosh, Sutirtha Roy
De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India.
January 2016: Indian Journal of Dermatology
L Gusdorf, M Mitcov, S Maradeix, S Cunat, L Martin, B Cribier
BACKGROUND: Pseudoxanthoma elasticum (PXE)-like syndrome is characterized by the association of PXE and cutis laxa (CL) features with a deficiency of vitamin K-dependent clotting factors. It was first described in 1971 and was identified as a distinct genetic entity in 2007 with analysis of the GGCX (γ-glutamyl carboxylase) gene, which is involved in congenital deficiency in vitamin K-dependent clotting factors. Here we report a new case of this extremely rare syndrome. PATIENTS AND METHODS: A 23-year-old female patient was seen for the emergence of loose and redundant skin following extensive weight loss...
April 2016: Annales de Dermatologie et de Vénéréologie
Kyoung Jin Park, Jong Ho Park, June Hee Park, Eun Bin Cho, Byoung Joon Kim, Jong Won Kim
Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. Electrophysiological studies revealed signs of chronic denervation in the cervical and lumbar regions, mild sympathetic autonomic dysfunction, and bilateral facial nerve dysfunction...
May 2016: Annals of Laboratory Medicine
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