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Neri Iria I Division of Dermatology, Department of Specialized, Clinical and Experimental Medicine, University of Bologna, Bologna, - - 2014
Differential diagnosis between congenital Volkmann ischemic contracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a clinical challenge. Both diseases share the same clinical presentation characterized by a stellate ulceration over the upper extremities and reported association with neuromuscular defects, but the diagnostic criteria to ...
Sevilla-Montoya Rosalba R Departamento de Genética y Genómica, Instituto Nacional de - - 2014
Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a ...
Ogawa Mitsutaka M Mitsutaka Ogawa, Koichi Furukawa, Tetsuya Okajima, Department of Biochemistry II, Nagoya University Graduate School of Medicine, Nagoya 466-0065, - - 2014
The O-linked β-N-acetylglucosamine (O-GlcNAc)ylation of cytoplasmic and nuclear proteins regulates basic cellular functions and is involved in the etiology of neurodegeneration and diabetes. Intracellular O-GlcNAcylation is catalyzed by a single O-GlcNAc transferase, O-GlcNAc transferase (OGT). Recently, an atypical O-GlcNAc transferase, extracellular O-linked β-N-acetylglucosamine (EOGT), which is responsible for the modification ...
El Hachem May - - 2014
Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis is nowadays feasible ...
Trakadis Yannis J - - 2014
We propose a phenotype-driven analysis of encrypted exome data to facilitate the widespread implementation of exome sequencing as a clinical genetic screening test.Twenty test-patients with varied syndromes were selected from the literature. For each patient, the mutation, phenotypic data, and genetic diagnosis were available. Next, control exome-files, each modified to ...
Iftikhar Nadia N Department of Dermatology, Military Hospital, - - 2014
A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of ...
Shields Charlotte Nelle - - 2014
A child referred for management of retinoblastoma who alternatively had a calcified scleral choristoma as part of previously undiagnosed organoid nevus syndrome is described. A 31-month-old male infant with scalp alopecia was referred for retinoblastoma management after a calcified mass in his left eye was found. Ophthalmic examination revealed the ...
Kumar Piyush P Department of Dermatology, Katihar Medical College, Katihar, Bihar, - - 2014
Sadeghian Naser N Pediatric Surgery Research Center, Shahid Beheshti University of Medical Sciences, Tehran, - - 2014
We present a 2-day-old female neonate with cleft of the upper sternum, patent ductus arteriosus (PDA), atrial septal defect (ASD), and subglottic hemangioma. Dimensional and Doppler echocardiography, abdominal ultrasonography, and imaging were performed. She underwent a surgical repair of sternal cleft in neonatal life. After 8 months, she developed respiratory ...
Abuzayed Bashar B Department of Neurosurgery, Al Bashir Government Hospital, Amman, - - 2014
A full-term newborn girl born with large skin, muscle, bone and dural defect in the lumbo-sacral area. The lesion included a split spinal cord by a perpendicular bony spur and connected from its tip to the upper lamina. Patient was diagnosed with aplasia cutis congenita (ACC) associated with type I ...
Lin Tzung-Yi TY Institute of Bioscience and Biotechnology, National Taiwan Ocean University, Keelung, - - 2014
The liver plays a vital role in metabolism, detoxification, digestion, and the maintenance of homeostasis. During development, the vertebrate embryonic liver undergoes a series of morphogenic processes known as hepatogenesis. Hepatogenesis can be separated into three interrelated processes: endoderm specification, hepatoblast differentiation, and hepatic outgrowth. Throughout this process, signaling molecules ...
Rostami Parastoo - - 2013
Epidermal nevus syndrome (ENS) is a rare condition characterized by congenital epidermal nevi (EN) associated abnormalities of other organs including central nervous system (CNS), skeletal system, eyes, and oral cavity (1). ENS is divided into a group of distinct disorders, based on the associated epidermal nevus and genetic inheritance pattern. ...
Bollag Wendy B WB 1] Charlie Norwood VA Medical Center, One Freedom Way, Augusta, Georgia, USA [2] Department of Physiology, Medical College of Georgia at Georgia Regents University, Augusta, Georgia, USA [3] Department of Medicine (Dermatology), Medical College of Georgia at Georgia Regents University, Augusta, Georgia, USA [4] Department of Cellular Biology & Anatomy, Medical College of Georgia at Georgia Regents University, Augusta, Georgia, USA [5] Department of Orthopaedic Surgery, Medical College of Georgia at Georgia Regents University, Augusta, Georgia, USA [6] Institute of Regenerative and Reparative Medicine, Medical College of Georgia at Georgia Regents University, Augusta, Georgia, - - 2013
The glucocorticoid receptor (GR), a member of the nuclear hormone family of transcription factors, has key physiological roles in many organs, including the skin. In this issue, Latorre et al. demonstrate that mice lacking GR in the epidermis exhibit increased vulnerability to chemical carcinogenesis. Evidence supporting an involvement of GR ...
Chiaverini C - - 2013
Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic EB (DEB). To date, only a few patients with DEB specifically combined with ACC have been described and genotyped and almost all cases represent dominant forms of the condition. ...
Dereure O O Département de dermatologie et unité INSERM U1058, hôpital Saint-Éloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: - - 2014
Browning John C JC The University of Texas Health Science Center at San Antonio, San Antonio, - - 2013
Aplasia cutis congenita (ACC) refers to any condition in which there is absence of skin at birth. This can be isolated ACC occurring on the scalp, with or without underlying ectopic neural tissue, or ACC can be associated with other conditions such as Adams-Oliver syndrome or epidermolysis bullosa. We discuss ...
Al-Salem Ahmed H AH Department of Pediatric Surgery, Maternity and Children Hospital, Dammam Qatif 31911, Saudi Arabia. Electronic address: - - 2014
Congenital pyloric atresia (CPA) is a very rare anomaly. It is usually seen as an isolated condition with excellent prognosis. Few cases are familial. These are usually associated with other hereditary conditions and have a poor prognosis. This is a review of our experience with 20 patients with CPA outlining ...
Mazza Joni M - - 2013
Fetus papyraceus is the fetal death of one or more fetuses in a multiparous pregnancy. The surviving infants can experience extensive aplasia cutis in an H-shaped distribution over the flanks and abdomen as a consequence of the loss of their fetal sibling. We report the case of a monochorionic, diamniotic ...
Kiedrowicz Magdalena M Department of Dermatology and Venereology, Pomeranian Medical University, Szczecin, Poland. Head of Department: Prof. Romuald Maleszka MD, - - 2013
The Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a rare phakomatosis which comprises a nevus sebaceous of Jadassohn, seizures and developmental delay associated with a wide spectrum of extracutaneous abnormalities including neurological, skeletal, ocular, cardiovascular and urogenital defects. We are presenting a case of an 18-year-old patient with systemic features of the SFM ...
D'Amico Alessandra A Department of Advanced Biomedical Sciences, Unit of Neuroradiology, Federico II University, Naples, - - 2013
To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Brain MRI and MR angiography were performed at 1.5T. The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. Abnormalities of CNS are an unusual manifestation ...
Atasoy Halil Ibrahim - - 2013
Reported herein is the case of a 2-year-old boy with Adams-Oliver syndrome who presented with dilated cardiomyopathy and complete atrioventricular block. The patient had aplasia cutis congenita with partial aplasia of the skull bones, and terminal transverse limb malformations characteristic of the disease. Although congenital cardiac malformations may be associated ...
Castañón Maria J - - 2013
Plectin is a large, 500-kDa, intermediate filament (IF)-associated protein. It acts as a cytoskeletal crosslinker and signaling scaffold, affecting mechanical as well as dynamic properties of the cytoskeleton. As a member of the plakin family of cytolinker proteins, plectin has a multidomain structure that is responsible for its vast binding ...
Marneros Alexander G - - 2013
Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified ...
Shaheen Ranad - - 2013
Adams-Oliver syndrome (AOS) is a rare, autosomal-dominant or -recessive disorder characterized primarily by aplasia cutis congenita and terminal transverse limb defects. Recently, we demonstrated that homozygous mutations in DOCK6 cause an autosomal-recessive form of AOS. In this study, we sought to determine the contribution of DOCK6 mutations to the etiology ...
Louise Lagier - - 2013
Aplasia cutis congenita (ACC) can be associated with fetus papyraceus. We report here the first case of ACC linked to fetus papyraceus with pulmonary anomalies. At birth, the patient presented with skin lesions of the trunk consisting of well-defined, symmetrically distributed, bilateral atrophic ulcerations. Physical examination was otherwise normal. Persistent ...
Anderson Susan M - - 2013
Aplasia cutis congenita (ACC) is a rare dermatologic disorder. The cause is unknown. It is a heterogeneous group of disorders whose common characteristic is focal absence of skin. It is a congenital absence of epidermis. In the majority of cases, this is limited to the scalp, although other areas may ...
Zimmerman Bree - - 2013
CME EDUCATIONAL OBJECTIVES1.Identify the clinical features of aplasia cutis congenita (ACC).2.Understand the differential diagnosis of ACC.3.Recognize features of concern for underlying associations of ACC. A 6-week-old girl presented to the dermatology clinic for evaluation of a scalp lesion. She was born full-term by vaginal delivery to a 27-year-old healthy mother ...
Dahmardehei Mostafa - - 2013
Aplasia cutis congenita is a rare anomaly presenting with the absence of skin. No definite etiology is available. The most common site is the scalp. We present an instance with ACC occurring symmetrically in both sides of the body from chest to flank.
Ustüner Pelin P Rize State Hospital, Dermatology Clinic, Rize, - - 2013
Aplasia cutis congenita is a disorder of the skin embryonic development characterized by a defect of localized or widespread areas of skin at birth. The lesions are mostly oval, 1-3 cm in diameter, with localization on the parietal part of scalp (60%) and rarely on the face and extremities. Herein, ...
Abilkassem Rachid R Service de Pédiatrie, Hôpital Militaire d'Instruction Mohamed V, Université Med V, Souissi, Rabat, - - 2013
Chinnery Patrick Francis PF International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, - - 2013
In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding ...
Tempark Therdpong - - 2012
We report a case of a 2-week-old white female who presented with large stellate atrophic skin defects on bilateral thighs and knees at birth. The pregnancy was complicated by the death of monozygotic twin at the 16th week of gestation. This represents aplasia cutis congenita with fetus papyraceus. This rare ...
Harvey Georgina - - 2012
BACKGROUND: Aplasia cutis congenita (ACC) is a rare condition commonly affecting the scalp in which there is a focal deficiency of cutaneous tissues of varying severity ranging from an absence of skin through to full thickness defects involving deeper elements such as bone and dura. Lesions of the scalp can ...
Hackmon Rinat - - 2012
Background: Hyperthyroidism is one of the most common endocrine disorders in pregnant women, and it can severely complicate the course and outcome of pregnancy. Methimazole (MMI) and propylthiouracil (PTU) are the standard anti-thyroid drugs used in the treatment of hyperthyroidism in pregnancy. Traditionally, MMI has been considered to have clearer ...
Coughlin Carrie C - - 2012
We report a case of focal preauricular dermal dysplasia in an 18-day-old healthy girl. We discuss the classification of focal preauricular dermal dysplasia within the spectrum of focal facial dermal dysplasia and aplasia cutis congenita.
Droubi Diana - - 2012
Aplasia cutis congenita (ACC), congenital absence of skin, is most common on the scalp but may rarely occur on the trunk and limbs. It is a physical finding that can occur in isolation or as part of a heterogeneous group of syndromes. It can affect localized to widespread areas of ...
Gupta Vipul - - 2012
Acalvaria is described as a rare congenital malformation in a 1-month-old female baby who presented with classical clinical features of soft, lax skull as a result of absent skull bones and associated muscles. Acalvaria is usually a fatal anomaly and is rarely discussed in English literature. Thus, we herein report ...
Maillet-Declerck Marie - - 2012
Introduction Aplasia cutis congenita (ACC) is a rare congenital disorder, which most commonly involves the scalp, and can affect the galea, the pericranium, the bone, and the dura mater. ACC thus is at risk of infection and hemorrhage. There is no consensus over the ideal management and the role for ...
Hassed Susan J - - 2012
Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, ...
Chan Rodney K - - 2012
ABSTRACT: Aplasia cutis congenita is failure of development of all layers of the skin. This condition most commonly affects the scalp and is typically an isolated finding. In rare instances, it can affect other anatomic sites and may be associated with syndromes or other causes. We discuss an infant born ...
Wang Jie-Cong - - 2012
ABSTRACT: Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with ...
Rokunohe Daiki - - 2012
Aplasia cutis congenita (ACC) is a congenital absence of skin, and a single alopecic lesion on the scalp is the most common form. We present a case of ACC with tetralogy of Fallot-A. Differetial diagnosis included Adams-Oliver syndrome and nevus psiloliparus. Interestingly, our patient showed multiple ACC lesions, which were ...
Levine Steven M - - 2012
Aplasia cutis congenita, a rare congenital disorder involving defects of some or all of the layers of the cranium, is associated with potential life-threatening complications. Although treatment involves both nonsurgical and surgical techniques, the importance of perioperative management cannot be overstressed. A multidisciplinary team, including personnel from nursing, neonatology, pediatrics, ...
Yoshihara Ai - - 2012
Background:Several reports have suggested that propylthiouracil (PTU) may be safer than methimazole (MMI) for treating thyrotoxicosis during pregnancy because congenital malformations have been associated with the use of MMI during pregnancy.Objectives:We investigated whether in utero exposure to antithyroid drugs resulted in a higher rate of major malformations than among the ...
Morrow Daniel - - 2012
  Aplasia cutis congenita (ACC) is the congenital absence of skin. There are a number of different classifications based on distribution and associated findings. Type V ACC is unique in that the lesions are typically symmetric and found primarily on the trunk but can also include the upper and lower ...
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