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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,…

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…

Four 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…

BACKGROUND: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline…