Results 81 to 90 of about 317 (112)
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Journal of the American Academy of Dermatology, 2004
Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom thickened skin; small nodules of the perianal region, face, and neck; joint contractures; growth failure; diarrhea; and frequent infections developed within the first few weeks of life.
Helen T, Shin +5 more
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Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom thickened skin; small nodules of the perianal region, face, and neck; joint contractures; growth failure; diarrhea; and frequent infections developed within the first few weeks of life.
Helen T, Shin +5 more
openaire +2 more sources
Journal of Craniofacial Surgery, 2003
Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy ...
Imad, Al-Najjadah +3 more
openaire +2 more sources
Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy ...
Imad, Al-Najjadah +3 more
openaire +2 more sources
Infantile systemic hyalinosis presenting as intractable infantile diarrhea
European Journal of Pediatrics, 2008Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2).
Sultân Al-Khenaizan
exaly +3 more sources
Infantile systemic hyalinosis: A clinicopathological study
American Journal of Medical Genetics, Part A, 2004AbstractInfantile systemic hyalinosis (ISH) is a presumed autosomal recessive connective tissue condition. Symptoms usually begin at birth or shortly thereafter, and are characterized by pain when handled, painful and swollen joints and, later on, dermal anomalies, diarrhea, failure to thrive and recurrent infections, which usually lead to death around
Germán Rodríguez, Criado +5 more
exaly +3 more sources
Infantile Systemic Hyalinosis with Early Thyroid Dysfunction
Journal of Pediatric Endocrinology and Metabolism, 2007Infantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissues and organs.
Ozgur Pirgon +2 more
exaly +7 more sources
Infantile Systemic Hyalinosis or Juvenile Hyaline Fibromatosis?
Pediatric Dermatology, 2004Abstract: Infantile systemic hyalinosis and juvenile hyaline fibromatosis are presumably autosomal recessive inherited diseases of unknown origin in which accumulation of an amorphous, hyaline material occurs in the skin and other organs. Both disorders may show clinical overlapping, suggesting that they might represent different variants of the same ...
Ivo Sazunic
exaly +3 more sources
Infantile Systemic Hyalinosis with Mutation in ANTXR2
The Indian Journal of Pediatrics, 2016To the Editor: Infantile systemic hyalinosis (OMIM 236490) is a rare autosomal recessive disorder characterized by deposition of hyaline in skin, gingiva, adrenals, skeletal muscles and gastro intestinal tract [1, 2]. It presents in a new born or in early infancy with painful movements, joint contractures, gingival nodules, progressive skin thickening ...
Dhanya Lakshmi, Narayanan +1 more
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Infantile Systemic Hyalinosis in a Black Infant
Pediatric Dermatology, 1994Abstract: A black girl was born with flexion contractures and experlenced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasla, perianal nodules, torticollis, dlarhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly sclerodermatous, and velvety, hyperpigmented plaques arose
E E, Sahn +5 more
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Pediatric Pathology, 1986
Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and ...
Benjamin H Landing, B H Landing
exaly +3 more sources
Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and ...
Benjamin H Landing, B H Landing
exaly +3 more sources
Infantile Systemic Hyalinosis: Newly Recognized Disorder of Collagen?
Pediatrics, 1990Four infants with stiff skin and painful joint contractures in the first few months of life are described. Other features included small papules, particularly on the face and trunk, perianal nodules, hyperpigmentation over the metacarpophalangeal joints and over the malleoli, gingival hyperplasia, persistent diarrhea, and failure to thrive.
M T, Glover, B D, Lake, D J, Atherton
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