EUROPEAN JOURNAL OF
PHARMACEUTICAL AND MEDICAL RESEARCH

An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

European Journal of Pharmaceutical and Medical Research (EJPMR) has indexed with various reputed international bodies like : Google Scholar , Indian Science Publications , InfoBase Index (In Process) , SOCOLAR, China , Research Bible, Fuchu, Tokyo. JAPAN , International Society for Research activity (ISRA) , Scientific Indexing Services (SIS) , Polish Scholarly Bibliography , Global Impact Factor (GIF) (Under Process) , Universal Impact Factor , International Scientific Indexing (ISI), UAE  , Index Copernicus , CAS (A Division of American Chemical Society) USA (Under Process) , Directory of Open Access Journal (DOAJ, Sweden, in process) , UDLedge Science Citation Index , CiteFactor , Directory Of Research Journal Indexing (DRJI) , Indian citation Index (ICI) , Journal Index (JI, Under Process) , Directory of abstract indexing for Journals (DAIJ) , Open Access Journals (Under Process) , Impact Factor Services For International Journals (IFSIJ) , Cosmos Impact Factor , Jour Informatics (Under Process) , Eurasian Scientific Journal Index (ESJI) , International Innovative Journal Impact Factor (IIJIF) , Science Library Index, Dubai, United Arab Emirates , Pubmed Database [NLM ID: 101669306] (Under Process) , 

 ISSN 2394- 3211

Impact Factor: 4.161

 ICV - 79.57

Abstract

INFANTILE SYSTEM HYLONOSIS CASE REPORT AND SURGICAL MANAGEMENT

Dr. Talal Bokhamsin*

ABSTRACT

Infantile systemic hyalinosis (ISH) is a rare, progressive and fatal autosomal recessive disease, characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscle and endocrine glands.[1] The clinical features are evident either at birth or within the first 6 months of life. This disease is usually fatal within 2 years of life. It is manifested by painful progressive joint contractures, thickened skin with hyperpigmentation over the bony prominences, susceptibility to bone fractures, infections and gingival hyperplasia. Here we report a case of a 5-year-old boy with a physical disability since birth, painful joints contractures, growth retardation, thickened skin with hyperpigmentation, and gingival hyperplasia.[2] Histopathologic and molecular studies confirmed the diagnosis of ISH in this patient. We describe the surgical management for this patient and the treatment outcomes. Since no treatment is currently available for this condition, symptomatic management and pain control are the only ways to manage such cases.

Keywords: Infantile systemic hyalinosis (ISH), Progressive joint contractures, gingival hyperplasia.


[Full Text Article]

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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process)