Results 91 to 100 of about 317 (112)

Case report: Infantile systemic hyalinosis: a dental perspective

European Archives of Paediatric Dentistry, 2011
Infantile systemic hyalinosis is a rare genetic disorder which involves accumulation of hyaline in the skin, bones, mucous membranes, and occasionally, also in internal organs. The major manifestations include painful articular contractures, cutaneous lesions (hyperpigmentation, subcutaneous nodules), malnutrition resulting from diarrhoea, gingival ...
D, Olczak-Kowalczyk, E, Krasuska-Slawinska, D, Rokicki, M, Pronicki   +3 more
openaire   +2 more sources

Infantile systemic hyalinosis: Case report and review of the literature

Journal of the American Academy of Dermatology, 2008
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and ...
Lisa E, Lindvall, Tanya, Kormeili, Elaine, Chen, Maria Celeste M, Ramirez, Valerie, Grum-Tokars, Marc J, Glucksman, John A, Martignetti, Michael V, Zaragoza, Senait W, Dyson   +8 more
openaire   +2 more sources

Infantile systemic hyalinosis: report of three Iranian children and review of the literature

Clinical Rheumatology, 2005
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscle and endocrine glands. The clinical features are evident either at birth or within 6 months of life.
Yahya, Aghighi, Shahla, Bahremand, Laleh Razavi, Nematollahi   +2 more
exaly   +3 more sources

Infantile Systemic Hyalinosis

JAMA Dermatology, 2019
Li, Liu, Faliang, Ren, Qi, Tan
openaire   +2 more sources

Infantile systemic hyalinosis

European Journal of Paediatric Neurology, 2017
P. Meyer, C. Tournier, D. Bessis, A. Rolland, E. Carme, A. Roubertie, A. Ribrault, E. Hajj-Verkindere, A.S. Lebre, F. Rivier   +9 more
openaire   +1 more source

Infantile Systemic Hyalinosis: A Case Report

2007
Infantile systemic hyalinosis (ISH) is an autosomal recessive, rare disorder in which hyaline deposition occurs in multiple organ systems, including the skin. It is characterised by painful joint contractures, gingival hypertrophy, generalized osteopenia, small pearly papules on the head, flesh nodules in the perianal region, and usually thickened skin.
Ozkaya, ÖZAY, Alanay, Yasemin, Boduroglu, Koray, Evans, Sibel Ersoy, Gunduz, Ozige   +4 more
openaire   +3 more sources

[Infantile systemic hyalinosis: a case report and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2017
Objective: To investigate the clinical, pathological and gene mutation features of infantile systemic hyalinosis(ISH). Method: Data of a child with ISH seen in Haikou Hospital were retrospectively analyzed for the diagnosis and differential diagnosis of infantile systemic hyalinosis and the relevant reports in literature were reviewed. Result: A 1 year
J, Lu, J, Li, F Y, Lin
openaire   +1 more source

Infantile systemic hyalinosis presenting as multiple join pain

2011
BACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence.
Tan, TY, Chung, B, Superti-Furga, A, Lausch, E   +3 more
openaire   +1 more source

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

Journal of the American Academy of Dermatology, 2009
Eman Nofal, Ahmad Nofal, Enayat Mohamed Attwa   +2 more
exaly  

Anthrax toxin receptors and infantile systemic hyalinosis

Matrix Biology, 2007
openaire   +2 more sources