scholarly journals Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review

2018 ◽  
Vol 10 (2) ◽  
pp. 101-109 ◽  
Author(s):  
Sahar Alsharif ◽  
Sohad Hindi ◽  
Fay  Khoja
Keyword(s):  
De Novo ◽  
Dental Enamel ◽  
Linear Pattern ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Lines Of Blaschko ◽  
Multisystemic Disease ◽  
The Face ◽  
Sparse Hair ◽  
The Right

Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. We report a case of unilateral FDH or Goltz syndrome in a 16-year-old girl presenting with hypopigmented-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm. Also she is having hypoplasia of the right breast with dental enamel abnormality and partial anodontia in the lower jaw. Sparse hair and partial alopecia on the right side (scalp, eyebrows, and eyelashes) were also observed.

scholarly journals A Case of Familial Focal Dermal Hypoplasia: A Report of 3 Cases in Consecutive Generations

2018 ◽  
Vol 2 (5) ◽  
Author(s):  
David Ernesto Castillo ◽  
Nicole Nagrani ◽  
David Castillo ◽  
Rocio Reyes Muñoz ◽  
Mayerlis Cárdenas Guevara ◽  
...  
Keyword(s):  
Skin Lesions ◽  
Dominant Inheritance ◽  
Multisystem Disorder ◽  
Enamel Defects ◽  
Focal Dermal Hypoplasia ◽  
Uncommon Presentation ◽  
Goltz Syndrome ◽  
The Right ◽  
Blaschko’S Lines ◽  
Musculoskeletal Systems

Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare multisystem disorder affecting mesodermal and ectodermal structures, with the skin, eyes, teeth, and musculoskeletal systems most commonly affected. FDH results from mutations in the PORCN gene. Ninety-five percent of cases arise from novo mutations, whereas 5% are hereditary with an X-linked dominant inheritance pattern. Here, we describe an uncommon presentation of FDH in three consecutive generations. Patient 1 is an 8-month-old female born of non-consanguineous marriage who presented with diffuse alopecia of the scalp, linear hypopigmented, atrophic papules, and plaques with peripheral hyperpigmentation on the left hemiabdomen and right lateral leg along Blaschko's lines as well as syndactyly of the right second and third toes. Skin biopsy from the abdomen showed a thin epidermis with flattened rete ridges and massive dermal edema within collagen fibers and reactive capillaries. Family history was significant for similar skin lesions and bone deformities in her mother and similar skin lesions in her grandmother. Patient 2 (patient 1’s mother) is a 17-year-old female with similar linear hypopigmented, atrophic plaques with peripheral hyperpigmentation on the abdomen and right axilla, syndactyly of the right hand, patchy alopecia of the scalp, microdontia, teeth fusion, enamel defects, verrucous papillomas in the axillae and onycholysis. Patient 3 (patient 1’s grandmother), presented with similar hypopigmented, atrophic plaques on the abdomen and left arm.

scholarly journals Treatment of Verrucous Epidermal Nevus by Radiofrequency Ablation: a Case Report

2015 ◽  
Vol 7 (1) ◽  
pp. 15-22
Author(s):  
Dragana Ljubisavljević ◽  
Zorana Zlatanović ◽  
Radmila Milenković ◽  
Danijela Popović ◽  
Mirjana Paravina
Keyword(s):  
First Trimester ◽  
Skin Lesions ◽  
Molecular Techniques ◽  
Epidermal Nevus ◽  
Genetic Mosaicism ◽  
Functional Problem ◽  
Lines Of Blaschko ◽  
The Face ◽  
History Of ◽  
The Right

Abstract Verrucous epidermal nevi are noninflammatory, congenital, cutaneous hamartomas composed of keratinocytes, abnormal clone(s) of cells that reflect genetic mosaicism arising from different somatic mutations. Some of these mutations are well recognized, but some are still unidentified. Molecular techniques are used for identification and classification of molecular causes of certain epidermal nevi, whereas all verrucous epidermal nevi are divided into epidermolytic and non-epidermolytic types. They are typically present at birth, but may appear during childhood, even later. Their prevalence in adults ranges from 0.1 to 0.5%, equally affecting both sexes, and about 1 in 1000 newborns. Warty, brown papules without inflammation distinguish verrucous nevi from other epidermal nevi, while presence at birth and persistance distinguish verrucous epidermal nevi from linear viral warts. Epidermolytic and non-epidermolytic verrucous epidermal nevi are almost always hard to distinguish, except by histology. As a rule, verrucous epidermal nevi are asymptomatic, they have a benign course, except occasionally, and therapy is mostly used for cosmetic reasons. Simple excision is usually the treatment of choice. Topical agents are rarely curative, as well as surgery which is associated with relapses, unless both epidermis and the underlying dermis are removed or destroyed at the same time. We present a case of an otherwise healthy 21-year-old female patient, who presented with a solitary congenital verrucous cauliflower-like lesion in the right zygomatic region of the face. The lesion was present from birth. Due to its gradual growth during years, the lesion became a great esthetic and functional problem for this young patient. There was no family history of similar or any other tumorous skin lesions in the family. On examination, the patient had a solitar unilateral, well defined yellowish cauliflower-like verrucous lesion confined to the right malar side of the face. The lesion was distributed along the lines of Blaschko extending horizontally, from its wider 1.5 cm cauliflower-like part on the right zygomatic region, towards its tail-like 0.5 cm thick end on the preauricular region, in approximately 3 cm long tail-like manner without crossing the midline. Since the patient refused biopsy, no exact differentiation between epidermolytic and non-epidermolytic nevi was possible. The diagnosis of verrucous epidermal nevus was based on history and clinical presentation, as a diagnosis of exclusion. Due to the fact that patients with epidermolytic verrucous epidermal nevi are at risk of parenting a child with bullous ichthyosiform erythroderma, the patient was counseled on this risk, and on the possibility of first-trimester antenatal diagnosis. The lesion was successfully treated by radio-wave surgery.

Choroid plexus papilloma in a girl with hypomelanosis of Ito

2012 ◽  
Vol 10 (3) ◽  
pp. 182-185 ◽  
Author(s):  
Ryoma Morigaki ◽  
Kyong-Hon Pooh ◽  
Kenji Shouno ◽  
Hidekazu Taniguchi ◽  
Shouichi Endo ◽  
...  
Keyword(s):  
Choroid Plexus ◽  
De Novo ◽  
Choroid Plexus Papilloma ◽  
Psychomotor Retardation ◽  
Chromosomal Mosaicism ◽  
Who Grade ◽  
Hypomelanosis Of Ito ◽  
Lines Of Blaschko ◽  
The Right ◽  
Plexus Papilloma

The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.

scholarly journals Chronic (Rasmussen’s) Encephalitis in an Adult

2003 ◽  
Vol 30 (3) ◽  
pp. 263-265 ◽  
Author(s):  
Richard Wennberg ◽  
Sukriti Nag ◽  
Mary-Pat McAndrews ◽  
Andres M. Lozano ◽  
Richard Farb ◽  
...  
Keyword(s):  
Visual Field ◽  
Right Visual Field ◽  
Loss Of Consciousness ◽  
Mild Head Injury ◽  
Partial Seizures ◽  
Complex Partial Seizures ◽  
The Past ◽  
Rasmussen’S Encephalitis ◽  
The Face ◽  
The Right

A 24-year-old woman was referred because of incompletely-controlled complex partial seizures. Her seizures had started at age 21, after a mild head injury with brief loss of consciousness incurred in a biking accident, and were characterized by a sensation of bright flashing lights in the right visual field, followed by numbness and tingling in the right foot, spreading up the leg and to the arm, ultimately involving the entire right side, including the face. Occasionally they spread further to involve right facial twitching with jerking of the right arm and leg, loss of awareness and, at the onset of her epilepsy, rare secondarily generalized convulsions. Seizure frequency averaged three to four per month. She was initially treated with phenytoin and clobazam and subsequently changed to carbamazepine 800 milligrams per day. She also complained that her right side was no longer as strong as her left and that it was also numb, especially the leg, but felt that this weakness had stabilized or improved slightly over the past two years.

The Essence of Christianity and the Cross of Christ

1914 ◽  
Vol 7 (4) ◽  
pp. 538-594
Author(s):  
Benjamin B. Warfield
Keyword(s):  
New Haven ◽  
Liberal Theology ◽  
Religious System ◽  
The World ◽  
Cross Of Christ ◽  
The Face ◽  
Divinity School ◽  
The Common ◽  
The Cross ◽  
The Right

In a recent number of The Harvard Theological Review, Professor Douglas Clyde Macintosh of the Yale Divinity School outlines in a very interesting manner the religious system to which he gives his adherence. For “substance of doctrine” (to use a form of speech formerly quite familiar at New Haven) this religious system does not differ markedly from what is usually taught in the circles of the so-called “Liberal Theology.” Professor Macintosh has, however, his own way of construing and phrasing the common “Liberal” teaching; and his own way of construing and phrasing it presents a number of features which invite comment. It is tempting to turn aside to enumerate some of these, and perhaps to offer some remarks upon them. As we must make a selection, however, it seems best to confine ourselves to what appears on the face of it to be the most remarkable thing in Professor Macintosh's representations. This is his disposition to retain for his religious system the historical name of Christianity, although it utterly repudiates the cross of Christ, and in fact feels itself (in case of need) quite able to get along without even the person of Christ. A “new Christianity,” he is willing, to be sure, to allow that it is—a “new Christianity for which the world is waiting”; and as such he is perhaps something more than willing to separate it from what he varyingly speaks of as “the older Christianity,” “actual Christianity,” “historic Christianity,” “actual, historical Christianity.” He strenuously claims for it, nevertheless, the right to call itself by the name of “Christianity.”

What of the Child? Preventing the Publication of Children's Names After the Age of 18

2021 ◽  
Vol 24 ◽  
pp. 1-31
Author(s):  
Sophy Baird
Keyword(s):  
Criminal Justice ◽  
Criminal Justice System ◽  
Justice System ◽  
Freedom Of Expression ◽  
Best Interests ◽  
Child Victims ◽  
Criminal Proceedings ◽  
The Right To Privacy ◽  
The Face ◽  
The Right

Children are afforded a number of protections when they encounter the criminal justice system. The need for special protection stems from the vulnerable position children occupy in society. When children form part of the criminal justice system, either by being an offender, victim, or witness, they may be subjected to harm. To mitigate against the potential harm that may be caused, our law provides that criminal proceedings involving children should not be open to the public, subject to the discretion of the court. This protection naturally seems at odds with the principle of open justice. However, the courts have reconciled the limitation with the legal purpose it serves. For all the protection and the lengths that the law goes to protect the identity of children in this regard, it appears there is an unofficial timer dictating when this protection should end. The media have been at the forefront of this conundrum to the extent that they believe that once a child (offender, victim, or witness) turns 18 years old, they are free to reveal the child's identity. This belief, grounded in the right to freedom of expression and the principle of open justice, is at odds with the principle of child's best interests, right to dignity and the right to privacy. It also stares incredulously in the face of the aims of the Child Justice Act and the principles of restorative justice. Measured against the detrimental psychological effects experienced by child victims, witnesses, and offenders, this article aims to critically analyse the legal and practical implications of revealing the identity of child victims, witnesses, and offenders after they turn 18 years old.

Appendicitis: a rare adverse event in colonoscopy

2021 ◽  
Vol 14 (7) ◽  
pp. e242523
Author(s):  
Samer Al-Dury ◽  
Mohammad Khalil ◽  
Riadh Sadik ◽  
Per Hedenström
Keyword(s):  
Emergency Department ◽  
Adverse Event ◽  
Abdominal Pain ◽  
Acute Appendicitis ◽  
Physical Examination ◽  
De Novo ◽  
Perforated Appendicitis ◽  
Lower Quadrant ◽  
The Right ◽  
Right Lower Quadrant

We present a case of a 41-year-old woman who visited the emergency department (ED) with acute abdomen. She was diagnosed with perforated appendicitis and abscess formation on CT. She was treated conservatively with antibiotics and discharged. On control CT 3 months later, the appendix had healed, but signs of thickening of the terminal ileum were noticed and colonoscopy was performed, which was uneventful and showed no signs of inflammation. Twelve hours later, she developed pain in the right lower quadrant, followed by fever, and visited the ED. Physical examination and blood work showed signs consistent with acute appendicitis, and appendectomy was performed laparoscopically 6 hours later. The patient recovered remarkably shortly afterwards. Whether colonoscopy resulted in de novo appendicitis or exacerbated an already existing inflammation remains unknown. However, endoscopists should be aware of this rare, yet serious complication and consider it in the workup of post-colonoscopy abdominal pain.

Manufacturability Analysis for Solid Freeform Fabrication

1999 ◽  
Author(s):  
R. K. Arni ◽  
S. K. Gupta
Keyword(s):  
Systematic Approach ◽  
Solid Freeform Fabrication ◽  
Second Step ◽  
Freeform Fabrication ◽  
Design Tolerance ◽  
The Face ◽  
The Right ◽  
The Given ◽  
Manufacturing Problems ◽  
Case Effect

Abstract This paper describes a systematic approach to analyzing manufacturability of parts produced using Solid Freeform Fabrication (SFF) processes with flatness, parallelism and perpendicularity tolerance requirements on the planar faces of the part. SFF processes approximate objects using layers, therefore the part being produced exhibits stair-case effect. The extent of this stair-case effect depends on the angle between the build orientation and the face normal. Therefore, different faces whose direction normal is oriented differently with respect to the build direction may exhibit different values of inaccuracies. We use a two step approach to perform the manufacturability analysis. We first analyze each specified tolerance on the part and identify the set of feasible build directions that can be used to satisfy that tolerance. As a second step, we take the intersection of all sets of feasible build directions to identify the set of build directions that can simultaneously satisfy all specified tolerance requirements. If there is at least one build direction that can satisfy all tolerance requirements, then the part is considered manufacturable. Otherwise, the part is considered non-manufacturable. Our research will help SFF designers and process providers in the following ways. By evaluating design tolerances against a given process capability, it will help designers in eliminating manufacturing problems and selecting the right SFF process for the given design. It will help process providers in selecting a build direction that can meet all design tolerance requirements.

The Right to Freedom of Thought in the European Convention of Human Rights

2021 ◽  
pp. 1-34
Author(s):  
Patrick O’Callaghan ◽  
Bethany Shiner
Keyword(s):  
Human Rights ◽  
Personal Development ◽  
Industrial Revolution ◽  
European Convention ◽  
Inner Life ◽  
Article 9 ◽  
The Face ◽  
Technological Developments ◽  
Freedom Of Thought ◽  
The Right

Abstract This paper examines the right to freedom of thought in the European Convention on Human Rights against the background of technological developments in neuroscience and algorithmic processes. Article 9 echr provides an absolute right to freedom of thought when the integrity of our inner life or forum internum is at stake. In all other cases, where thoughts have been manifested in some way in the forum externum, the right to freedom of thought is treated as a qualified right. While Article 9 echr is a core focus of this paper, we argue that freedom of thought is further supported by Articles 8, 10 and 11 echr. This complex of rights carves out breathing space for the individual’s personal development and therefore supports the enjoyment of freedom of thought in its fullest sense. Charged with ‘maintaining and promoting the ideals and values of a democratic society’ as well as ensuring that individual human rights are given ‘practical and effective protection’, this paper predicts that the ECtHR will make greater use of the right to freedom of thought in the face of the emerging challenges of the Fourth Industrial Revolution.

Ambidexterity [L'Homme droit et l'Homme gauche: les Ambidextres]. (Revue philosophique, October, 1901.) Biervliet, J. J. van.

1902 ◽  
Vol 48 (201) ◽  
pp. 348-349
Author(s):  
Havelock Ellis
Keyword(s):  
Uniform Method ◽  
Careful Study ◽  
The Face ◽  
The Right ◽  
Two Sides ◽  
Careful Investigation

Professor van Biervliet has now completed his very careful study of right-sidedness and left-sidedness (already summarised in the Journal) by a still more careful investigation of ambidextrous persons. In the first place by photography, according to a special and uniform method, he finds that in the ambidextrous the two sides of the face, as well as the arms, are fairly alike, the face being slightly more developed on the right side, as among left-sided people, but not in so marked a degree. They occupy much the same position, indeed, throughout the investigation. When compared with right-sided and left-sided people as regards sensory acuteness, it is found that while the right-sided have predominant sensory acuteness on the right side, both the left-sided and the ambidextrous can see further, hear better, possess more acute tactile and muscular sense, on the left side, so that ambidexterity may be regarded as a variety of left-sidedness of more symmetrical anatomical type. In all respects the ambidextrous almost or quite resembled the left-sided.

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