Presentation
Therefore we present a clinical case of multiple myeloma diagnosed following pain and swelling from an ostelytic mandibular lesion, and we review the literature in order establish a clinical profile and a typical radiological image that would allow us [pesquisa.bvsalud.org]
[symptoma.com] Burning mouth syndrome (BMS) is an oral dysesthesia presenting as a burning sensation of the tongue and other oral and perioral mucosae. [de.dict.md]
E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]
Clinically, even, waxy, thick, well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. [emedicine.medscape.com]
Presenting problem: An 11-year old Chinese girl presented to the dermatology clinic with nail resorption of the left index finger for 1 year. [bone-abstracts.org]
Entire Body System
- Pain
A 46 year-old woman comes to the Emergency Department complaining about preauricular pain and swelling. The orthopantomography shows a radiolucid multilolocular image along the mandibulary ramus and condyle. [pesquisa.bvsalud.org]
Congenital, Autosomal Recessive Asymbolia For Pain Congenital Analgesia, Autosomal Recessive Insensitivity To Pain, Channelopathy-Associated Neuropathy, Hereditary Sensory and Autonomic, Type IID, Included CIP HSAN2D, Included 243000 Genetic Test Registry [ukgtn.nhs.uk]
Affected infants fail to feel pain in response to stimuli that normally should produce pain such as failing to respond to routine injections that are part of pediatric immunizations. [rarediseases.org]
Insensitivity with Anhidrosis, Congenital — Congenital Insensitivity to Pain with Anhidrosis — Hereditary Sensory Autonomic Neuropathy, Type 4 — HSAN 4 — Insensitivity to Pain, Congenital, with Anhidrosis — Hereditary Sensory and Autonomic Neuropathy [mesh.kib.ki.se]
[helpforibs.com] Patients with irritable bowel syndrome usually present with the following symptoms: Colicky abdominal pain: Patients with irritable bowel syndrome suffer from acute episodes [symptoma.com] Altered pain appreciation and autonomic function [de.dict.md]
- Inflammation
With Polyangiitis (EPGA) January 17, 2019 by Peter Ciszewski Eosinophilic granulomatosis with polyangiitis (EGPA), also called Churg Strauss syndrome, is a rare, chronic disorder and a form of primary systemic autoimmune vasculitis characterized by inflammation [checkrare.com]
Repeated trauma to joints results in progressive inflammation, damage, and deformity of the affected joints (Charcot joint or neuropathic arthropathy). The large, weight-bearing joints are especially prone to this complication. [rarediseases.org]
An increased erythrocyte sedimentation rate, a positive rheumatoid factor test, the presence of rheumatoid nodules, the pattern of bone destruction, and painful periarticular inflammation help to differentiate JRA from Winchester syndrome. [emedicine.staging.medscape.com]
The serpin superfamily of proteins is diverse and contributes to inflammation, immunology, and metastasis. [6] Progressive PPK (Greither disease) A synonym is transgrediens et progrediens PPK. This is inherited in an autosomal dominant fashion. [emedicine.medscape.com]
Insensitivity Syndrome, Partial Androgenetic Alopecia (Hair Loss, Inherited) Androgenetic Alopecia (Hair Loss, Inherited), Deciding about Treatment Andy's Story: Finding Your Own Routine When You Have Diabetes Anemia of Chronic Disease anemia of chronic inflammation [healthmedicinet.com]
- Asymptomatic
Observations: Asymptomatic terminal phalangeal osteolysis has been investigated in two unrelated young adults with no other bony or systemic abnormalities. [jamanetwork.com]
At almost the same time, the patient started developing asymptomatic papules in the hands. [e-ijd.org]
The activity of the illness is limited to the growth period, with adults becoming asymptomatic. [emedicine.medscape.com]
The patients mother had similar shrinking fingers, which first appeared approximately at age 50, progressed for 2 years, then became asymptomatic and have remained stable for the past 15 years. [docslide.com.br]
- Surgical Procedure
Hemorrhage may be difficult to control during surgical procedures. [cda-adc.ca]
The use of fasciotomies, especially in the prehospital environment, remains controversial and this study demonstrates ercefuyl increased infection and mor- tality complicated by this surgical procedure 55,56. 8). [artem-kuzmin.ru]
Musculoskeletal
- Fracture
[…] compression fractures Compression fracture 0002953 [rarediseases.info.nih.gov]
Multiple fractures have involved the spine (1, 6--9, 11), long bones (9-- 11, 14), hand or feet (3, 4, 11, 14). Two instances required surgical inter- vention (8, 11). The greatest number of fractures was seven per patient (11). [docslide.net]
Bone fractures from minor traumas. Both sexes affected. Aetiology unknown. Inheritance is autosomal dominant. Sporadic cases are believed to represent a fresh gene mutation. [whonamedit.com]
Revised SPC: Xgeva (denosumab) injection SPC updated to advise atypical femoral fracture has been reclassified as an uncommon adverse reaction (= 1/1,000 to < 1/100, previously classified as rare; = 1/10,000 to < 1/1,000) Joint Injection and Aspiration [evidence.nhs.uk]
Affected individuals develop osteoporosis, which causes the bones to be brittle and prone to fracture. Many affected individuals experience breakage (compression fractures) of the spinal bones (vertebrae). [medlineplus.gov]
- Brachydactyly
[…] of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Skull / cranial anomalies - Terminal / third phalangeal bone of fingers hypoplasia - Thick / bushy eyebrows Frequent - Abnormal fingernails - Abnormal vertebral size / shape - [csbg.cnb.csic.es]
Deletion and point mutations of PTHLH cause brachydactyly type E. Am. J. Hum. Genet. 86, 434–439. 4. Collinson, M., Leonard, S. J., Charlton, J., Crolla, J. A., Silve, C., Hall, C. M. et al. [nature.com]
80%-99% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Decreased skull ossification Decreased bone formation of skull 0004331 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Hypertelorism [rarediseases.info.nih.gov]
Brachydactyly, digital contractures and progressive deformities can occur as late manifestations. This section summarizes the clinical and radiographic characteristics of some of these disorders with multiple phalangeal tuft involvement. [rrnursingschool.biz]
[…] spondylitis Ankylosing vertebral hyperostosis with tylosis Ankylosis of teeth Ankylostomiasis Ann Annular constricting bands Annular pancreas Annuloaortic ectasia Ano Anodontia Anonychia ectrodactyly Anonychia microcephaly Anonychia onychodystrophy brachydactyly [statemaster.com]
Ears
- Hearing Impairment
impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Macrocephaly Increased size of skull Large head [rarediseases.info.nih.gov]
Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear. [emedicine.medscape.com]
impairment, see age-related hearing loss age-related hearing loss age-related macular degeneration age-related maculopathy, see age-related macular degeneration agenesis of cerebellar vermis, see Joubert syndrome agenesis of corpus callosum with chorioretinal [mygenomics.com]
Skin
- Ulcer
On examination of right foot there is an ulcer 1.5 cm x 1 cm size on plantar aspect of great toe. Another ulcer 1 cm x 0.5 cm was on plantar aspect of second toe. The ulcers were painless. [ijdvl.com]
If an ulcer or infection occurs nevertheless, it must be treated adequately and immediately. Weight bearing should then be discontinued. The ulcer should be cleaned, and treatment with antibiotics might become necessary. [jamanetwork.com]
Affected infants often develop ulcers on their tongues from repeatedly biting their tongues. [rarediseases.org]
We found 13 cases including ours The mean age was 61 years with a slight male predominance; the most common clinical presentation was a firm to hard mandibular swelling with or without mucosal ulceration; and the most characteristic radiological image [pesquisa.bvsalud.org]
In all cases, the primary site of the osteolytic process was at the phalangeal regions with skin ulceration and sensory disturbance. [link.springer.com]
- Alopecia
[…] immunodeficiency Alopecia macular degeneration growth retardation Alopecia mental retardation hypogonadism Alopecia mental retardation syndrome Alopecia totalis Alopecia universalis onychodystrophy vitiligo Alopecia universalis Alopecia, epilepsy, pyorrhea [statemaster.com]
Alopecia immunodeficiency Alopecia macular degeneration growth retardation Alopecia mental retardation hypogonadism Alopecia mental retardation syndrome Alopecia totalis Alopecia universalis onychodystrophy vitiligo Alopecia universalis Alopecia, epilepsy [wikidoc.org]
Alopecia hypogonadism extrapyramidal disorder[?] Alopecia immunodeficiency[?] Alopecia macular degeneration growth retardation[?] Alopecia mental retardation hypogonadism[?] Alopecia mental retardation syndrome[?] Alopecia totalis[?] [encyclopedia.kids.net.au]
(Hair Loss) Alopecia (Hair Loss), Transplant for Alopecia Areata Alopecia Areata Alopecia Areata: Psoralen With Ultraviolet A Light (PUVA) Therapy Alopecia Celsi Alopecia cicatrisata Alopecia cicatrisata Alopecia Circumscripta Alopecia-Poliosis-Uveitis-Vitiligo-Deafness-Cutaneous-Uveo-Oto [healthmedicinet.com]
- Hirsutism
Previously the delineation of these two disorders has primarily been through the presence of serpentine fibulae in SFPKS, while individuals with HCS have acro-osteolysis and coarse hirsute facial features. [nature.com]
narrow head Tall and narrow skull [ more ] 0000268 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Generalized hirsutism [rarediseases.info.nih.gov]
Short stature, early loss of permanent teeth and hirsutism are observed in adults. Cystic kidney disease is rare but an essential syndromic component in a subset of patients. [orpha.net]
[…] platybasia - Bone pain - Broad cheeks / cherub-like / cherubin face - Cleft lip and palate - Coarse face - Dental malocclusion - Dolichocephaly / scaphocephaly - Downturned mouth - Frontal sinus agenesis / anomaly - Hearing loss / hypoacusia / deafness - Hirsutism [csbg.cnb.csic.es]
- Skin Lesion
lesions that consist of multiple tumors in the face, palate, ears, and neck; gingival hyperplasia; joint contractures; and bone changes. [emedicine.staging.medscape.com]
- Sparse Hair
Extraoral The extraoral manifestations of EDS are the presence of scarring on the chin and forehead, a history of repeated luxations of the TMJ, epicanthus, hypertelorism, a narrow curved nose, sparse hair and hyperelasticity of the skin. [cda-adc.ca]
Psychiatrical
- Anger
Fears, anger & sadness, emotions we typically have the most difficulty with, are commonly repressed while awake; allows function & interaction with others. [healthtap.com]
Behavioral problems including irritability, hyperactivity, an inability to control one’s emotions (emotional lability), and episodes of anger or rage have also been reported. [rarediseases.org]
Hemolytic Anemia, Iron-Deficiency Anemia, Megaloblastic Anemia, Pernicious Anemia, Vitamin B12 Deficiency Anemias, Sideroblastic Anencephaly Anesthesia Anesthesia Specialists Anesthesia: Malignant Hyperthermia Response Aneurysm, Brain Angelman Syndrome Anger [healthmedicinet.com]
Urogenital
- Hematuria
[…] autosomal dominant cerebrovascular amyloidosis, see hereditary cerebral amyloid angiopathy autosomal dominant congenital stationary night blindness Autosomal dominant craniometaphyseal dysplasia, see craniometaphyseal dysplasia autosomal dominant familial hematuria [mygenomics.com]
Neurologic
- Polyneuropathy
Acute Inflammatory Demyelinating Polyneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy (Guillain-Barré Syndrome) Acute Inflammatory Neuropathy Acute Inflammatory Polyneuropathy [healthmedicinet.com]
[…] aminopterin Amniotic bands Amoebiasis due to Entamoeba histolytica Amoebiasis due to free-living amoebae Amoebiasis or Amebiasis Ampola syndrome Amychophobia Amylo-1,6-glucosidase deficiency Amyloid angiopathy Amyloid Neuropathies, Familial Amyloid polyneuropathy [statemaster.com]
Amyloid polyneuropathy, transthyretin related[?] Amyloidosis of gingiva and conjunctiva mental retardation[?] Amyloidosis, Familial[?] Amyloidosis[?] Amylopectinosis[?] Amyoplasia mandibulofacial dysostosis[?] Amyoplasia[?] Amyotonia congenita[?] [encyclopedia.kids.net.au]
GM2-gangliosidosis, AB variant acute febrile mucocutaneous lymph node syndrome, see Kawasaki disease acute generalised pustular psoriasis, see generalized pustular psoriasis acute infectious polyneuritis, see Guillain-Barré syndrome acute inflammatory polyneuropathy [mygenomics.com]
- Hyperactivity
Behavioral problems including irritability, hyperactivity, an inability to control one’s emotions (emotional lability), and episodes of anger or rage have also been reported. [rarediseases.org]
Disorder Attention Deficit Hyperactivity Disorder (ADHD) Atypical Hemolytic Uremic Syndrome Atypical Hyperphenylalaninemia Atypical Mole Syndrome Atypical PKU Atypical Werner Syndrome [healthmedicinet.com]
II Athabaskan brain stem dysgenesis Atherosclerosis Athetosis Atopic Dermatitis Atresia of small intestine Atrial myxoma, familial Atrial septal defects Atrioventricular septal defect Atrophoderma of Pierini and Pasini Atrophy ATR-X Attention Deficit Hyperactivity [starrepublic.org]
Athlete's foot Atopic Dermatitis Atresia Atresia of small intestine Atrial myxoma Atrial septal defect Atrioventricular fistula Atrioventricular septal defect Atrophic vaginitis Atrophoderma Atrophoderma of Pierini and Pasini Atrophy ATR-X Attention Deficit Hyperactivity [wikidoc.org]
Attention Deficit Disorder with Hyperactivity[?] Attenuated FAP[?] Atychiphobia[?] Atypical lipodystrophy[?] Auditory Perceptual Disorder[?] Aughton syndrome[?] Ausems Wittebol Post Hennekam syndrome[?] Autism Autoimmune hemolytic anemia[?] [encyclopedia.kids.net.au]
- Irritability
[…] are hallmarks of Cardiac syndrome X, Irritable bowel syndrome and Reflex sympathetic dystrophy. [de.dict.md]
Behavioral problems including irritability, hyperactivity, an inability to control one’s emotions (emotional lability), and episodes of anger or rage have also been reported. [rarediseases.org]
Antidiarrheal Medicines for Inflammatory Bowel Disease Antidiarrheals for Irritable Bowel Syndrome Antihemophilic Factor Deficiency Antihemophilic Globulin Deficiency Antihistamines Antihistamines for Morning Sickness Antihistamines for Severe Allergic [healthmedicinet.com]
Treatment
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.ro]
Acne: Treatment With Alpha Hydroxy Acids Acne: Treatment With Antibiotics Acne: Treatment With Benzoyl Peroxide Acne: Treatment With Salicylic Acid Acosta's Disease Acoustic Neurilemoma acoustic neurinoma Acoustic Neuroma ACPS II ACPS III ACPS IV ACPS [healthmedicinet.com]
These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass. [diseaseinfosearch.org]
We introduce a surgical treatment for chroni… Publisher Full Text Modified toe pulp fillet flap coverage: Better wound healing and satisfactory length preservation. [unboundmedicine.com]
Management and treatment No treatment exists for AOD, but early osteoporosis might be treated by bisphosphonates, alone or in combination with teriparatide. Prognosis Patients have a normal life expectancy. [orpha.net]
Prognosis
Prognosis - Acroosteolysis dominant type Not supplied. Treatment - Acroosteolysis dominant type Not supplied. Resources - Acroosteolysis dominant type [checkorphan.org]
Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only. [orpha.net]
Prognosis If the Hirschsprung’s disease is treated in time, ABCD sufferers live otherwise healthy lives. If it is not found soon enough, death often occurs in infancy. [senyawa-kimia.blogspot.com]
Etiology
Idiopathic non-familial variant is of unknown etiology and usually affects fingers and is progressive. Hereditary causes of acroosteolysis follow an autosomal dominant or recessive pattern of inheritance and distal phalanges are primarily affected. [bone-abstracts.org]
Etiology AOD is caused by truncating mutations in the NOTCH2 gene (1p13-p11). All mutations lie within the last coding exon of NOTCH2 resulting in a gain of function due to the loss of the protein-destabilizing PEST domain. [orpha.net]
Epidemiology
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.es]
IZUMO1 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IZUMO1 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for IZUMO1 Genetic Association Database (GAD) IZUMO1 Human Genome Epidemiology [genecards.org]
Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum. [orpha.net]
Pathophysiology
The pathophysiology of the disease is not known. [rrnursingschool.biz]
Additional data are urgently needed to support specific pathogenetic or pathophysiologic hypotheses. [docslide.net]
Prevention
Prevention - Acroosteolysis dominant type Not supplied. Diagnosis - Acroosteolysis dominant type Not supplied. Prognosis - Acroosteolysis dominant type Not supplied. Treatment - Acroosteolysis dominant type Not supplied. [checkorphan.org]
These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass. [diseaseinfosearch.org]
Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public [emedicine.staging.medscape.com]
Alcohol Withdrawal Antianxiety Medicines for Irritable Bowel Syndrome Antibiotic Sensitivity Test Antibiotic-Induced Proctitis Antibiotics for an Ear Infection, Deciding About Antibiotics, Using Wisely Antibody Tests for Lupus Anticoagulants for Stroke Prevention [healthmedicinet.com]
Nothing can be done to prevent the disease. Diagnosis The occurrence of WS has been reported to be one in 45,000 in Europe. [senyawa-kimia.blogspot.com]