Inflammation Hormonal Imbalance Neoplasia More commonly associated with an autosomal dominant gene inheritance Multi-system syndromes: Zimmerman-Laband syndrome, Jones syndrome, Ramon syndrome, Rutherford syndrome, juvenile hyaline fibromatosis, systemic infantile hyalinosis, and mannosidosis Some unknown causes Genetic linkage studies are among the most popular methods of study to look at the mechanism of this HGF. (wikipedia.org)
Infantile systemic hyalinosis is an allelic variant of juvenile systemic hyalinosis. (medscape.com)
Autosomal1
Specific linkage studies have localized the mutation for isolated, nonsyndromic autosomal dominant forms of gingival fibromatosis to chromosomes 2 and 5, more specifically 2p21-p22 and 5q13-q22. (wikipedia.org)
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. (beds.ac.uk)
The differential diagnosis of Winchester syndrome includes the following diseases. (medscape.com)
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. (medscape.com)
The Winchester syndrome: a nonlysosomal connective tissue disease. (medscape.com)
In 1974, Hollister et al reported 3 cases of this disease in consanguineous relatives from Mexico: 2 sisters aged 8 and 9.5 years and their 22-year-old cousin. (medscape.com)
Slowly progressive1
Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life. (nih.gov)
Chronic2
Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites. (beds.ac.uk)
In the case of the 22-year-old man in whom the disease had a chronic course, a biopsy sample obtained from the upper arm showed a diffuse and somewhat hypocellular and dense homogenization of the collagen that extended from below the reticular dermis to the subdermal adipose tissue. (medscape.com)
Clinical1
There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. (wikipedia.org)
Ocular1
The disease has a progressive course with aggravating bony-articular, ocular, and cutaneous changes. (medscape.com)
Progressive3
In all subtypes of X-MTM, the muscle disease is not obviously progressive. (beds.ac.uk)
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). (nih.gov)
SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. (nih.gov)
Includes1
CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
Early1
renal disease is the second leading cause of early death. (nih.gov)
Infantile1
The infantile form is usually present at birth and the juvenile form develops from 2 months to 4 years. (medscape.com)
It is characterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may lead to a severe limitation of mobility. (proteopedia.org)
Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. (nih.gov)
Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the first 2 years of life. (proteopedia.org)
Milder2
In milder cases (previously diagnosed as juvenile hyaline fibromatosis), signs and symptoms begin in childhood and affect fewer body systems. (medlineplus.gov)
some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood. (nih.gov)
Mutations1
Researchers suspect that gene mutations disrupt the formation of the extracellular matrix, allowing a hyaline substance to leak through and build up in various body tissues. (medlineplus.gov)
Clinical1
There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. (wikipedia.org)
Contractures1
In juvenile hyaline fibromatosis the presentation is with joint contractures or loss of mobility, and patients have large, coarse facies. (medscape.com)
Infections2
CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (cdc.gov)
Gene2
Though much more research needs to be done, researchers have mostly agreed that a mutation in SOS1, son-of-sevenless gene, is responsible for this disease. (wikipedia.org)
Researchers claim that this mutation in the SOS1 gene is a probable primary cause of this disease but limited information supports the mechanism of this claim. (wikipedia.org)
Enlargement1
There is progressive gingival enlargement with bleeding and anemia. (medscape.com)
Term1
There may or may not be any evidence of history of HGF in the family nor any usage of taking long-term medicines for any particular disease when it comes to diagnosing HGF. (wikipedia.org)
Cases1
The vast majority of cases are associated with Cushing disease. (nih.gov)
Prognosis1
The visceral lesions have a poor prognosis -- this is the result of lung disease or functional obstruction. (medscape.com)
Rare2
Browse the GARD list of rare diseases and related terms to find topics of interest to you. (blogspot.com)
Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. (blogspot.com)
Include1
Examples of these include multicentric myofibromatosis and juvenile hyaline fibromatosis. (medscape.com)
Code1
It is provided as an additional code where it is desired to identify the bacterial agent in diseases classified elsewhere. (cdc.gov)