Hyaline Fibromatosis Syndrome [systémová hyalinóza]

topical
1
Terms

infantilní systémová hyalinóza
juvenilní hyalinní fibromatóza

 

Fibromatosis Hyalinica Multiplex Juvenilis
Fibromatosis Juvenile Hyaline
Fibromatosis, Juvenile Hyaline
Hyaline Fibromatosis Juvenile
Hyalinosis, Systemic
Hyalinosis, Systemic Juvenile
Infantile Systemic Hyalinosis
Juvenile Hyaline Fibromatosis
Juvenile Hyalinosis
Murray Syndrome
Puretic Syndrome
Systemic Hyalinosis

Persistent link   https://www.medvik.cz/link/D057770
Definition

Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.

Annotation
do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE
DUI
D057770 MeSH Browser
CUI
M0539002
Previous indexing
Hyalin (1975-2010)
History note
2011
Public note
2011

C Diseases
C16.320.850.080 Albinism 17
C16.320.850.180 Cutis Laxa 10
C16.320.850.190 Darier Disease 26
C16.320.850.210 Dermatitis, Atopic 1 454
C16.320.850.235 Dyskeratosis Congenita 9
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.260 Ehlers-Danlos Syndrome 51
C16.320.850.275 Epidermolysis Bullosa 108
C16.320.850.405 Ichthyosis Vulgaris 5
C16.320.850.408 Ichthyosis, X-Linked 9
C16.320.850.420 Incontinentia Pigmenti 19
C16.320.850.475 Keratoderma, Palmoplantar 15
C16.320.850.647 Monilethrix 1
C16.320.850.673 Netherton Syndrome 2
C16.320.850.700 Pemphigus, Benign Familial 11
C16.320.850.730 Porokeratosis 11
C16.320.850.738 Porphyria, Erythropoietic 11
C16.320.850.742 Porphyrias, Hepatic 27
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum 13
C16.320.850.765 Rothmund-Thomson Syndrome 8
C16.320.850.820 Sjogren-Larsson Syndrome 4
C16.320.850.970 Xeroderma Pigmentosum 25
C17.800 Skin Diseases 2 801
C17.800.827.080 Albinism 17
C17.800.827.180 Cutis Laxa 10
C17.800.827.190 Darier Disease 26
C17.800.827.210 Dermatitis, Atopic 1 454
C17.800.827.235 Dyskeratosis Congenita 9
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.260 Ehlers-Danlos Syndrome 51
C17.800.827.275 Epidermolysis Bullosa 108
C17.800.827.405 Ichthyosis Vulgaris 5
C17.800.827.408 Ichthyosis, X-Linked 9
C17.800.827.420 Incontinentia Pigmenti 19
C17.800.827.475 Keratoderma, Palmoplantar 15
C17.800.827.602 Monilethrix 1
C17.800.827.610 Muir-Torre Syndrome 10
C17.800.827.655 Netherton Syndrome 2
C17.800.827.700 Pemphigus, Benign Familial 11
C17.800.827.730 Porokeratosis 11
C17.800.827.738 Porphyria, Erythropoietic 11
C17.800.827.742 Porphyrias, Hepatic 27
C17.800.827.750 Pseudoxanthoma Elasticum 13
C17.800.827.775 Rothmund-Thomson Syndrome 8
C17.800.827.820 Sjogren-Larsson Syndrome 4
C17.800.827.970 Xeroderma Pigmentosum 25