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    1019 results match your criteria CHILD Syndrome

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    Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade's experience.
    Orphanet J Rare Dis 2017 Jul 25;12(1):133. Epub 2017 Jul 25.
    School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, NSW, 2031, Australia.
    Background: Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case series with an aim to standardising approaches to diagnosis and management. Australasian data are lacking. Read More

    A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.
    G3 (Bethesda) 2017 Sep 7;7(9):3115-3121. Epub 2017 Sep 7.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland
    In heterozygous females affected by an X-linked skin disorder, lesions often appear in a characteristic pattern, the so-called Blaschko's lines. We investigated a female Labrador Retriever and her crossbred daughter, which both showed similar clinical lesions that followed Blaschko's lines. The two male littermates of the affected daughter had died at birth, suggesting a monogenic X-chromosomal semidominant mode of inheritance. Read More

    Common Skin Conditions in Children: Noninfectious Rashes.
    FP Essent 2017 Feb;453:18-25
    University of North Carolina Chapel Hill School of Medicine Dermatology Residency Program, 410 Market St. Suite 400 CB#7715, Chapel Hill, NC 27516.
    Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Read More

    [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Dec;33(6):878-882
    Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China.
    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. Read More

    Fracture and Nonaccidental Injury: A Case Report of a Lateral Condylar Fracture in a 13 Month Old.
    Pediatr Emerg Care 2016 Dec;32(12):865-867
    From the Departments of Paediatrics and Surgery, Schulich School of Medicine and Dentistry at Western University, Children's Hospital at London Health Sciences Centre, London, Ontario, Canada.
    Pediatric nonaccidental injury (NAI) is an important entity that is commonly seen in a variety of medical settings. These children often present to the emergency department or primary care physicians as the first point of contact after an NAI. There is a major risk associated with nonrecognition of an NAI, including a 35% chance of subsequent injury and a 5% to 10% risk of mortality. Read More

    Only child syndrome in snakes: Eggs incubated alone produce asocial individuals.
    Sci Rep 2016 Oct 20;6:35752. Epub 2016 Oct 20.
    Station d'Ecologie Théorique et Expérimentale, CNRS, UMR 5321, 09200 Moulis, France.
    Egg-clustering and communal nesting behaviours provide advantages to offspring. Advantages range from anti-predatory benefits, maintenance of moisture and temperature levels within the nest, preventing the eggs from rolling, to enabling hatching synchrony through embryo communication. It was recently suggested that embryo communication may extend beyond development fine-tuning, and potentially convey information about the quality of the natal environment as well as provide an indication of forthcoming competition amongst siblings, conspecifics or even heterospecifics. Read More

    The radiologist's role in child abuse: imaging protocol and differential diagnosis.
    Radiologia 2016 May 15;58 Suppl 2:119-28. Epub 2016 Apr 15.
    Departamento de Radiología Pediátrica, Hospital Universitario Materno Infantil Vall d'Hebron, Barcelona, España.
    Child abuse or nonaccidental trauma is a major problem worldwide; in Spain, there are about 12,000 victims per year. The detection of specific lesions or findings that are incongruent with the reported mechanism of trauma mean that radiologists are often the physician responsible for sounding the alarm in cases of abuse. The triad consisting of subdural hematoma, metaphyseal fracture, and posterior rib fractures is very characteristic of the battered child syndrome. Read More

    Acute Subdural Hematoma in Infants with Abusive Head Trauma: A Literature Review.
    Neurol Med Chir (Tokyo) 2016 May 10;56(5):264-73. Epub 2016 Mar 10.
    Department of Neurosurgery, Sendai City Hospital.
    The number of cases with child abuse is increasing in Japan, and abusive head trauma (AHT) is a major cause of death in abused children. Child abuse has been recognized by the late 19th century, and widely accepted as battered child syndrome in the middle of the 20th century. As terms, there had been considerable mechanistic controversies between shaken-baby and -impact syndrome until the beginning of the 21st century. Read More

    Inherited ichthyosis: Syndromic forms.
    J Dermatol 2016 Mar;43(3):252-63
    Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.
    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. Read More

    Skeletal and radiological manifestations of child abuse: Implications for study in past populations.
    Clin Anat 2016 Oct 25;29(7):844-53. Epub 2016 Jan 25.
    Department of Sociology and Anthropology, North Carolina State University, Raleigh, North Carolina.
    Child abuse in its various types such as physical, emotional, sexual, and neglect has been document throughout history. However, before the mid-20th century, inflicted injuries to children was overlooked in part because children were often viewed as property. According to the World Health Organization, 57,000 children were the victims of homicide in the year 2000. Read More

    [Retinal bleeding and venous stasis in a 10-month-old infant after a fall?].
    Ophthalmologe 2016 Aug;113(8):694-8
    Klinik für Kinder und Jugendliche, Helios Dr. Horst-Schmidt-Kliniken, Wiesbaden, Deutschland.
    This report describes the case of a 10-month-old infant, who was delivered to our hospital by the emergency physician intubated and in an unclear unconscious state. The father reported that the child had fallen from the couch to the ground. The consulted ophthalmologist reported venous stasis in both eyes including intraretinal and preretinal bleeding in all four quadrants, a diffuse vitreous hemorrhage in the right eye and temporal retinal wrinkling in both eyes. Read More

    Epidermal nevus syndromes.
    Handb Clin Neurol 2015 ;132:291-316
    Departments of Dermatology and Community and Family Medicine, University of California San Francisco, Santa Rosa, CA, USA. Electronic address:
    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. Read More

    'The bones tell a story the child is too young or too frightened to tell': The Battered Child Syndrome in Post-war Britain and America.
    Soc Hist Med 2015 Nov 15;28(4):767-788. Epub 2015 Apr 15.
    This article traces the emergence of child abuse as a medical concern in post-war Britain and America. In the early 1960s American paediatricians and radiologists defined the 'battered child syndrome' to characterise infants subjected to serious physical abuse. In the British context, paediatricians and radiologists, but also dermatologists and ophthalmologists, drew upon this work and sought to identify clear diagnostic signs of child maltreatment. Read More

    The Effect of Methylphenidate on Neurological Soft Signs in ADHD.
    Psychiatry Investig 2015 Oct 30;12(4):545-50. Epub 2015 Sep 30.
    Department of Pharmacology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia.
    Objective: Neurological soft signs are very common in children with the attention deficit hyperactivity disorder (ADHD), and the first line medication of this disorder is methylphenidate. The aim of the study was to assess the effect of methylphenidate on the neurological soft signs in children and adolescents suffering from ADHD depending on the dose of methylphenidate.

    Methods: Thirty five patients with ADHD were investigated by the ADHD RS-IV parent version questionnaire and the Revised Neurological Examination for Subtle Signs before treatment adjustment and after four weeks of methylphenidate medication. Read More

    Battered Child Syndrome; a Case Study.
    Emerg (Tehran) 2015 ;3(2):81-2
    Department of Emergency Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
    One of the important and usual missed causes of pediatric traumas is child abuse. This ominous phenomenon, which can be presented physically, psychologically, sexually, and emotionally has grown significantly in recent years. Many children are not diagnosed in the early stages of evaluation. Read More

    CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
    Pediatr Dermatol 2015 Nov-Dec;32(6):e277-82. Epub 2015 Oct 13.
    Department of Dermatology, Zhujiang Hospital of Southern Medical University, Guangzhou, China.
    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an X-linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase-like protein (NSDHL) at Xq28. The histopathologic hallmark of skin lesions in CHILD syndrome is psoriasiform epidermis with hyperkeratosis and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Read More

    The epidemiology of fractures in infants--Which accidents are preventable?
    Injury 2016 Jan 3;47(1):188-91. Epub 2015 Sep 3.
    Department of Pediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria.
    Introduction: In children, fractures have a huge impact on the health care system. In order to develop effective prevention strategies exact knowledge about the epidemiology of fractures is mandatory. This study aims to describe clinical and epidemiological data of fractures diagnosed in infants. Read More

    Childhood interstitial lung disease: A systematic review.
    Pediatr Pulmonol 2015 Dec 30;50(12):1383-92. Epub 2015 Apr 30.
    Department of Respiratory Medicine, Sydney Children's Hospital, Randwick NSW 2031, Australia.
    Objectives: Childhood interstitial lung disease (chILD) is a group of rare chronic and complex disorders of variable pathology. There has been no systematic review of published chILD research. This study aimed to describe chILD classification systems, epidemiology, morbidity, treatments, outcomes, and the impact of chILD on families and the burden on health services. Read More

    Some reflections from the past and some ideas for the future: The 2014 Kempe Oration.
    Child Abuse Negl 2015 May 23;43:1-7. Epub 2015 Apr 23.
    Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
    Although the physical features of child abuse had been described before 1962, it was Henry Kempe et al.'s article "The Battered Child Syndrome" that is regarded as the beginning of widespread awareness and acceptance of this previously hidden problem. It was another 15 years before child sex abuse started to receive similar widespread recognition. Read More

    A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Am J Med Genet A 2015 Jun 21;167(6):1342-8. Epub 2015 Apr 21.
    Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
    The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-linked dominant, male lethal disorder caused by mutations in the NSDHL gene that result in the loss of the function of the NSDHL protein. Read More

    Systemic conditions in children associated with pigmentary changes.
    Clin Dermatol 2015 May-Jun;33(3):362-7. Epub 2014 Dec 8.
    Department of Pediatrics, Indiana University School of Medicine, E3131 Fifth Third Office Building, 720 Eskenazi Avenue, Indianapolis, Indiana, 46202. Electronic address:
    Systemic conditions may have pigmentary associations. Prompt recognition of these associations allows the practitioner to initiate the appropriate workup and therapy when indicated. This contribution highlights some of the clinical features of neurofibromatosis 1, LEOPARD syndrome, acanthosis nigricans, hypomelanosis of Ito, incontinentia pigmenti, CHILD syndrome, and piebaldism to assist the dermatologist in making the proper diagnosis. Read More

    CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.
    Pediatr Dermatol 2015 Jul-Aug;32(4):e145-7. Epub 2015 Apr 6.
    First Department of Pediatrics, University of Athens and Aghia Sofia Children's Hospital, Athens, Greece.
    CHILD syndrome is a rare X-linked dominant condition that presents with congenital hemidysplasia, Ichthyosiform erythroderma, and limb defects in affected patients. We report the case of a 10-year-old girl treated with topical simvastatin and cholesterol ointment, after which her skin lesions significantly improved within the first 30 days of treatment. Read More

    Histologic Artifacts of Autolytic Müller Cell Foot Process Swelling in Postmortem Examination of Infant Eyes: Potential Pitfall in the Evaluation of Traumatic Retinal Hemorrhages.
    JAMA Ophthalmol 2015 Jun;133(6):706-9
    Department of Ophthalmology, Stanford University School of Medicine, Stanford, California.
    Importance: Retinal hemorrhages are an important sequela of fatal head trauma. The accurate pathologic diagnosis of retinal hemorrhages has critical implications for determination of the manner of death.

    Observations: We describe an autolytic postmortem histologic artifact of eosinophilic Müller cell foot process swelling that mimics a nerve fiber layer hemorrhage. Read More

    Retinal hemorrhages in nonaccidental trauma: look at susceptibility-weighted imaging on pediatric MRI.
    Pediatr Neurol 2015 Apr 16;52(4):464-5. Epub 2015 Jan 16.
    Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

    Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
    Hum Mol Genet 2015 May 4;24(10):2808-25. Epub 2015 Feb 4.
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA,
    NSDHL is a 3β-hydroxysterol dehydrogenase that is involved in the removal of two C-4 methyl groups in one of the later steps of cholesterol biosynthesis. Mutations in the gene encoding the enzyme are responsible for the X-linked, male lethal mouse mutations bare patches and striated, as well as most cases of human CHILD syndrome. Rare, hypomorphic NSDHL mutations are also associated with X-linked intellectual disability in males with CK syndrome. Read More

    Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
    Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.
    Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.
    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. Read More

    Significance of platelet function diagnostics for clarification of suspected battered child syndrome.
    Hamostaseologie 2014 ;34 Suppl 1:S53-6
    Priv.-Doz. Dr. med. Ralf Knöfler, Medizinische Fakultät der TU Dresden, Klinik und Poliklinik für Kinder- und Jugendmedizin, Bereich Pädiatrische Hämostaseologie, Fetscherstr. 74, Tel. +49/(0)351/458 47 99, Fax +49/(0)351/458 57 88, E-mail:
    The manifestation of an unclear bleeding tendency in childhood calls for an extended coagulation work-up, particularly when a battered child syndrome is suspected and typical concomitant injuries are absent. The chosen diagnostic tests should be able to detect the presence of relatively common coagulation defects such as von Willebrand syndrome or hemophilia, but also rare diseases such as inherited thrombocytopathies. The PFA-100® test does not help to provide a definite diagnosis especially in cases of mild inherited thrombocytopathies, since in most cases the PFA-100® test results are normal. Read More

    [Insufficient knowledge about battered child syndrome among doctors in the emergency department].
    Ugeskr Laeger 2014 Apr;176(18)
    Carl Blochs Gade 15, 4. t.v., 8000 Aarhus C.
    The aim of the study was to determine the present knowledge regarding battered child syndrome (BCS) among doctors in the emergency department. Nineteen doctors with different educational levels from seven hospitals in Denmark were interviewed. For children younger than 18 months, 68%, 65% and 25% of the participants related femur-, collum costae- and corner fractures to BCS respectively. Read More

    Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
    Annu Rev Genomics Hum Genet 2014 ;15:173-94
    Department of Pharmacology, University of Oxford, Oxford OX1 3QT, United Kingdom; email:
    Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources through the uptake of low-density lipoproteins. Cholesterol biosynthesis is a complex, multienzyme-catalyzed pathway involving a series of sequentially acting enzymes. Inherited defects in genes encoding cholesterol biosynthetic enzymes or other regulators of cholesterol homeostasis result in severe metabolic diseases, many of which are rare in the general population and currently without effective therapy. Read More

    CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
    J Cutan Pathol 2014 Oct 18;41(10):787-90. Epub 2014 Oct 18.
    Department of Dermatology, University of Regensburg, Regensburg, Germany.
    CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. Read More

    Coronal clefts in infants - rare differential diagnosis of traumatic injuries of vertebral bodies in battered children.
    Leg Med (Tokyo) 2014 Nov 15;16(6):333-6. Epub 2014 Jul 15.
    Department of Pediatric Pathology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany.
    Accidental and nonaccidental spinal injuries are generally rarely seen in infants. If affected, vertebral bodies usually present compression fractures due to forced hyperflexion or hypertension. Radiographic examination of the infantile skeleton can reveal a radiolucent band running through a vertebral body. Read More

    Hospital based emergency department visits attributed to child physical abuse in United States: predictors of in-hospital mortality.
    PLoS One 2014 11;9(2):e100110. Epub 2014 Jun 11.
    Department of Dentistry, University of Iowa, Iowa City, Iowa, United States of America.
    Objectives: To describe nationally representative outcomes of physical abuse injuries in children necessitating Emergency Department (ED) visits in United States. The impact of various injuries on mortality is examined. We hypothesize that physical abuse resulting in intracranial injuries are associated with worse outcome. Read More

    Whole-body magnetic resonance imaging: an essential tool for diagnosis and work up of non-oncological systemic diseases in children.
    Minerva Pediatr 2014 Jun;66(3):169-76
    Unit of Pediatric Radiology Department of Radiology Geneva University Hospital HUG Geneva, Switzerland -
    Aim: Whole-body MRI (WBMRI) is a non-irradiating imaging technique, suitable to investigate the extent of multisystemic diseases in pediatric patients. However its real impact on diagnosis and management of non-oncological pediatric diseases remains unclear. We present our experience of pediatric WBMRI in various pathologies. Read More

    [Judicial decisions after reporting cases of shaken baby syndrome. Sentences and compensation].
    Arch Pediatr 2014 Apr 12;21(4):363-71. Epub 2014 Mar 12.
    Faculté de médecine, université de Rennes-1, 2, avenue du Professeur-Léon-Bernard, 35043 Rennes cedex, France; Service de médecine légale et médecine pénitentiaire, CHU de Rennes, 2, rue Henri-Le-Guilloux, 35033 Rennes cedex 9, France.
    Background: Shaken baby syndrome (SBS) is defined by the association of intracranial hemorrhage and retinal hemorrhage in infants under 2 years of age, with no obvious external trauma. This syndrome leads to frequent neurological sequelae. Therefore, these infants can claim compensation for damage if sequelae are directly and irrefutably linked to the trauma. Read More

    Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
    Orphanet J Rare Dis 2014 Mar 7;9:33. Epub 2014 Mar 7.
    Department of Dermatology, Medical Center-University of Freiburg, 79104 Freiburg, Germany.
    Background: Inherited ichthyoses or Mendelian disorders of cornification (MeDOC) are clinically heterogeneous disorders with high unmet therapeutic needs, which are characterized by skin hyperkeratosis and scaling. Some MeDOC types are associated with defects of the epidermal lipid metabolism, resulting in perturbed barrier permeability and subsequent epidermal hyperplasia, hyperkeratosis and inflammation. An example is the CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked dominant multisystem MeDOC caused by mutations in the NSDHL (NAD(P)H steroid dehydrogenase-like protein) gene, which is involved in the distal cholesterol biosynthetic pathway. Read More

    Pediatric nonaccidental abdominal trauma: what the radiologist should know.
    Radiographics 2014 Jan-Feb;34(1):139-53
    From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo.
    Abdominal injury in nonaccidental trauma (NAT) is an increasingly recognized cause of hospitalization in abused children. Abdominal injuries in NAT are often severe and have high rates of surgical intervention. Certain imaging findings in the pediatric abdomen, notably bowel perforation and pancreatic injury, should alert the radiologist to possible abuse and incite close interrogation concerning the reported mechanism of injury. Read More

    Fatal metastatic cutaneous squamous cell carcinoma evolving from a localized verrucous epidermal nevus.
    Case Rep Dermatol 2013 5;5(3):272-82. Epub 2013 Oct 5.
    Rumailah Hospital, Doha, Qatar.
    A malignant transformation is known to occur in many nevi such as a sebaceous nevus or a basal cell nevus, but a verrucous epidermal nevus has only rarely been associated with neoplastic changes. Keratoacanthoma, multifocal papillary apocrine adenoma, multiple malignant eccrine poroma, basal cell carcinoma and cutaneous squamous cell carcinoma (CSCC) have all been reported to develop from a verrucous epidermal nevus. CSCC has also been reported to arise from other nevoid lesions like a nevus comedonicus, porokeratosis, a sebaceous nevus, an oral sponge nevus and an ichthyosiform nevus with CHILD syndrome. Read More

    Excitement in shame: the price we pay.
    Int J Group Psychother 2014 Jan;64(1):90-103
    National Group Psychotherapy Institute of the Washington School of Psychiatry, the Washington Psychoanalytic Society, and is Clinical Associate Professor at George Washington University Medical Center. He is also in private practice in Washington, DC.
    This paper explores the role of excitement in shame, extending the theoretical underpinnings of my work (Aledort, 2002, 2003, 2008, 2009) on narcissism and the omnipotent child syndrome. Shame, excitement, and early narcissistic self-states are complexly intermingled, each influencing the other. Empathy alone is insufficient; the passion connected to shame can be easily hidden. Read More

    Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.
    Am J Med Genet A 2013 Dec 29;161A(12):3095-114. Epub 2013 Oct 29.
    A fundamental question in developmental biology is how a chimeric animal such as a bilateral gynandromorphic animal can have different phenotypes confined to different lateral body halves, and how mutation-induced phenotypes, such as genetic diseases, can be confined to one lateral body half in patients. Here, I propose that embryos of many, if not all, bilaterian animals are divided into left and right halves at a very early stage (which may vary among different types of animals), after which the descendants of the left-sided and right-sided cells will almost exclusively remain on their original sides, respectively, throughout the remaining development. This embryonic left-right separation mechanism allows (1) mutations and the mutation-induced phenotypes to be strictly confined to one lateral body half in animals and humans; (2) mothers with bilateral hereditary primary breast cancer to transmit their disease to their offspring at twofold of the rate compared to mothers with unilateral hereditary breast cancer; and (3) a mosaic embryo carrying genetic or epigenetic mutations to develop into either an individual with the mutation-induced phenotype confined unilaterally, or a pair of twins displaying complete, partial, or mirror-image discordance for the phenotype. Read More

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