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Maatouk I - - 2012
Netherton syndrome (NS) is a rare and severe autosomal recessive ichthyosis. We report the case of a patient with NS treated successfully with narrowband ultraviolet B (NB-UVB) phototherapy after failure of low-dose oral isotretinoin. A 16-year-old girl born to consanguineous parents presented with severe ichthyosis. On examination of her hair, ...
Boudewyns An - - 2012
22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic ...
Wang Frederick M - - 2012
ABSTRACT:: Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system ...
Sikkandar M F - - 2012
A 63 year old male with a history of gout and hypertension presented with carpal tunnel syndrome. He gave history of bilateral wrist pain associated with numbness over the median nerve distribution of the hand. Tinels sign and Phalens test were positive with no obvious thenar muscle wasting on examination. ...
Hickey Benjamin A - - 2012
BACKGROUND: Hair toe tourniquet syndrome is a condition in which a hair or thread encircles a digit and results in acute digital ischemia. It usually occurs in children under the age of 1 year. Prompt recognition and surgical removal of the constricting material can save the digit from irreversible tissue ...
Naik Prashant - - 2012
Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous ...
Merino de Paz Nayra - - 2012
  Satoyoshi syndrome is a rare multisystemic disorder characterized by alopecia, diarrhea, muscle spasms, osseous abnormalities, and endocrinopathies. We report a case of Satoyoshi syndrome misdiagnosed as vitamin D-dependent rickets for several years.
Koitschev Assen - - 2012
Abstract Conclusion: The age-dependent disease progression requires accelerating diagnosis of Muckle-Wells syndrome (MWS) in order to start treatment as early as possible. The most frequent, but not obligate symptoms are familial fatigue, hearing loss, and arthralgia. The design of further clinical trials should focus on hearing in order to document ...
Fabre Alexandre - - 2012
Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated ...
Castori Marco - - 2012
Basal cell carcinoma (BCC) is the commonest cancer in humans. Predisposing factors reflect common genetic variations and environmental influences in most cases. However, an underlying Mendelian disorder should be suspected in a specific subset of patients, namely those with multiple, early onset lesions. Some specific conditions, including Gorlin, Bazex-Dupré-Christol and ...
Kohler Jonathan E - - 2012
Trichobezoar is a mass of hair retained in the stomach, usually associated with trichotillomania. Large trichobezoars may extend into the small bowel and cause small bowel obstruction or pancreatic dysfunction, a condition known as Rapunzel syndrome. Here we report the first North American case of Rapunzel syndrome in a male ...
- - 2012
To review the clinical aspects of ovarian hyperstimulation syndrome and provide recommendations on its diagnosis and clinical management. These guidelines will assist in the early recognition and management of ovarian hyperstimulation. Early recognition and prompt systematic supportive care will help avert poor outcomes. Medline, Embase, and the Cochrane database were ...
Morioka Hiroshi H Department of Infectious Diseases, Tokyo Metropolitan Bokutoh General Hospital, - - 2014
We herein report the case of 41-year-old homosexual man who presented to our hospital with typical acute retroviral syndrome. Complications of bilateral facial nerve palsy and appendicitis appeared eight days after admission. The bilateral facial nerve palsy spontaneously recovered one month later; however, the appendicitis required surgical intervention. To our ...
Hamahata Atsumori - - 2012
  Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes. We report on a 28-year-old man with Kabuki syndrome with three pilomatricomas in his head and thigh. Although several ...
Verardino Gustavo Costa - - 2012
Pityriasis Amiantacea, also known as pseudotinea amiantacea, is a clinical syndrome which affects the scalp, having a reaction pattern reported to occur in several inflammatory dermatoses. The authors seek to establish the correlation between its clinical, dermoscopic and light microscopy features through the analysis of scale- encrusted hair tufts submitted ...
Reese Jason M - - 2012
Rhabdomyolysis is a common syndrome that can range from asymptomatic to a severe life-threatening condition. It is the result of acute muscle fiber necrosis leading to cell lysis and subsequent transfer of those byproducts into the circulatory system.1-3 The most significant constituent of these byproducts is myoglobin, which has been ...
Ohgami Nobutaka - - 2012
About 120 million people worldwide suffer from congenital (early-onset) hearing loss. Thirty percent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing loss. In addition, a large number of elderly people worldwide suffer from age-related (late-onset) hearing loss. c-Ret and c-RET have been shown to be ...
Saliem Ahmed M - - 2012
Absence of the distal crease of the fingers is usually associated with a flexion deformity. A single crease of one or more fingers is found in many syndromes. We present this report as a rare case of absence of interphalangeal crease of the right ring finger with restriction of flexion ...
Nozaki Takafumi - - 2012
Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who ...
Oge Halil Kamil HK Ankara Guven Hospital, Department of Neurosurgery, Ankara, Turkey. - - 2012
The aim of this study was to try to find parametric ratios for the diagnosis and pathophysiology of carpal tunnel syndrome using MR. Dominant side wrist MRI examinations of 27 female carpal tunnel patients and 21 normal females were compared. The carpal tunnel contents area / carpal tunnel cross section ...
Khurana Vinod Kumar - - 2012
We report a family affected with Witkop tooth and nail syndrome. This is a rare syndrome among the ectodermal dysplasias in which there are abnormalities of teeth, nails, and hair with normal sweat gland function.
Datta Kalpana - - 2012
Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM ...
Verma Rajesh - - 2012
Guillain-Barre syndrome (GBS) is a postinfectious, autoimmune disorder which, apart from limb weakness, is characterised by cranial nerve involvement. Bilateral facial nerve palsy is the most common pattern of cranial nerve involvement in GBS. However, unilateral facial palsy, although uncommon, can be seen in GBS. We report a rare case ...
Razdan Sushil - - 2012
We report on the higher prevalence of deaf-mutes from a village in Jammu and Kashmir State of India. A cross-sectional study among 79 deaf mutes using pedigree analysis, audiometry, imaging and molecular analysis. A high rate of hereditary deafness with 79 individuals diagnosed to be suffering from non-syndrome deafness in ...
Venugopal V - - 2012
Woolly hair nevus is a rare non-hereditary focal condition characterized by unruly and tightly coiled hair. It can appear in childhood or adolescence and may be associated with epidermal or melanocytic nevus. Patients presenting with woolly hair must be examined completely to rule out cardiofaciocutaneous and Noonan syndrome.
Dalben Gisele da Silva Gda - - 2012
The purpose of this paper was to report the case of a 6-year-old male patient who was clinically diagnosed as having Rapp-Hodgkin syndrome-a variant of ectodermal dysplasia characterized by dysplastic disorders of the skin, hair, and nails associated with cleft lip and/or palate. The patient exhibited only the primary maxillary ...
Ochi Masayuki - - 2012
A 69-year-old woman was admitted because of unconsciousness and multiple cranial neuropathy. She had suffered diarrhea 2 weeks previously. On examination, she was noted to have total external and internal ophthalmoplegia, bilateral facial palsy, dysphagia, dysarthria, neck weakness, distal motor weakness of all limbs, and ataxia. She had also presented ...
Ferreira Rafael Martins - - 2011
In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal ...
Arnulf Isabelle - - 2011
Parkinson disease (PD) and restless legs syndrome (RLS)(1) have few clinical features in common, but they both typically respond to dopaminergic drugs. Current evidence suggests that idiopathic RLS is not a significant risk factor for developing PD. Whether "true" RLS exists in PD, is more prevalent in PD than in ...
Ojeda Isidro - - 2011
The four red-flowered, apparently bird-pollinated Lotus species from the Canary Islands have previously been classified in their own genus, Rhyncholotus. Currently, they are considered as a separate section within genus Lotus, distinct from other herbaceous Canarian congeners which are yellow-flowered and bee-pollinated. A combined analysis of four nuclear regions (including ...
Chu Michael P MP Department of Medicine, University of Alberta, Edmonton, Alberta, - - 2011
Hoarseness and dysphonia are often a result of vocal cord polyps which in turn, are linked to vocal trauma. We report the case of vocal polyps in the setting of a 27-year old male with a history only remarkable for Tourette syndrome. We review the literature regarding etiology and pathophysiology ...
Kodandapani Sreelakshmi - - 2011
Genetic aberrations comprise one-third of women with premature ovarian aging (POA). X chromosome abnormalities are seen in these women. We report a case of a 29-year-old lady with primary infertility and POA. She was phenotypically normal and her basal follicle stimulating hormone level was above the age-specific cut-off. Karyotype was ...
Smisha Mp - - 2011
Failure to aspirate oocytes after ovarian stimulation for an in vitro fertilization cycle, after confirming normal folliculogenesis and steroidogenesis occurs in about 0.2-7% of the cycles. This condition is known as empty follicle syndrome. Most of the time, it may be due to human or pharmacological error, but rarely there ...
M Bates J E H - - 2011
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe auto-inflammatory disease, due to mutation of the CIAS1 gene. CINCA syndrome should be considered the most severe of a spectrum of three disorders all due to mutation of the CIAS1 gene. CINCA syndrome produces a triad of symptoms of ...
Steinberg Bruce - - 2011
The purpose of this project was to study the efficacy of quantitative muscle hardness (QH) curve analysis for noninvasive measurement of muscle compartment interstitial pressure (IMP), and to eliminate the need for a comparison normal QH measurement to determine a pathologic reading. Elevation of IMP may lead to limb compartment ...
Gross Susan J - - 2011
OBJECTIVES: To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions. METHODS: To generate proxies for the various disorders assessed ...
Arkoncel Maria Luisa Cecilia R - - 2011
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone producing neurons. The authors report a case of a 26-year-old Filipino male who presented with eunuchoid body proportion, absence of facial and ...
Kurban Mazen - - 2011
Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been ...
Stover Daniel G DG Department of Medicine and Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, - - 2010
Autosomal dominant hyperimmunoglobulin E syndrome (HIES, or Job syndrome) is a rare primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eosinophilia, recurrent skin and pulmonary infections, dermatitis, and connective tissue and skeletal abnormalities. A 26-year-old male with known HIES presented with abdominal pain and diarrhea. Imaging showed sigmoid diverticulitis without ...
Jasperson Kw - - 2011
Jasperson KW, Samowitz WS, Burt RW. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to ...
Kaiser Andreas M - - 2010
A pair of 2 serial abdominal images show Ogilvie syndrome in a patient after cardiac surgery with the subtle but classic x-ray transition from a nonperforated to a perforated colon.
Miles Lachlan F - - 2010
McKittrick-Wheelock syndrome is a rare but recognised complication of hypersecretory rectosigmoid villous adenoma. Fluid and electrolyte imbalances require close monitoring because of large-volume losses of water, sodium and potassium. We report an unusual presentation of the syndrome associated with the development of acute pseudo-obstruction of the colon, presumably due to ...
Lee Yu-Sung - - 2012
Background: It is uncommon for emergency physicians to discover a patient with circulatory failure resulting from chronic diarrhea. Objectives: We describe McKittrick-Wheelock syndrome, a rare disorder characterized by volume and electrolyte depletion and caused by colonic neoplasm. Case Report: The case of a 30-year-old woman who came to the Emergency ...
Juhn Edward - - 2010
Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease ...
Ishikawa Emi - - 2010
Cronkhite-Canada syndrome (CCS) is a rare, noninherited gastrointestinal polyposis syndrome associated with characteristic ectodermal abnormalities. Here, we report a case of Cronkhite-Canada syndrome with cecal intussusception relieved by colonoscopy. A 52-year-old man who was diagnosed as CCS pathologically two years previously presented abdominal pain and sub fever-up. Physical examination revealed ...
Chung Maurice K - - 2010
We evaluated the prevalence of positive potassium sensitivity and cystoscopy with hydrodistention findings in patients with overactive bladder. This was a prospective cohort study of 98 patients who presented with overactive bladder symptoms. The diagnosis of overactive bladder is established by the presence of irritable voiding symptoms. All patients completed ...
Aparici Carina Mari - - 2010
Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma. To our knowledge, this is the first KID syndrome imaged with FDG-PET in the literature. This paper is intended to help familiarize with the FDG abnormalities related to this rare entity.
Quintyne K I - - 2010
We herein report a case of a 33-year-old man in remission from Hodgkin lymphoma, who presented with reduced potency and hair loss. Initial endocrine tests revealed autoimmune hypothyroidism. An MRI of his pituitary gland at onset revealed hyperplasia. He tolerated replacement endocrine therapy with good response, but with no improvement ...
Lorina Castelino Renita - - 2010
The oromandibular-limb hypogenesis syndrome comprises a group of anomalies which simultaneously affect the mandible, tongue, and maxilla with or without reductive limb anomalies. It is characterized by failure of development of the intraoral region and distal extremities. Multiple and variable deformities of the mandible, maxilla and tongue may occur in ...
Liu Hao - - 2009
Caudal duplication syndrome is a very rare congenital deformity. A 13-year-old boy was born with duplicated colon-rectum and anus, diphallus, hydronephrosis of left kidney with megaureter, double bladders and urethras, and vertebral abnormalities. Multiple-stage correction was performed to remove the duplicated colon and the mucosa of the duplicated rectum. A ...
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