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[Psoas abscess with hip contracture in a patient with Crohn's disease].

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A psoas abscess (PA) is a rare clinical entity but is potentially serious condition which presents diagnostic and therapeutic challenges. The diagnosis is frequently delayed due to its variable and nonspecific features and occult clinical course. The delay in diagnosis and treatment of PA is the

Infantile systemic hyalinosis presenting as intractable infantile diarrhea.

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Infantile 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). Here we report a Saudi

[A case of progressive systemic sclerosis associated with mutilans-type arthropathy and suspected Felty's syndrome].

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A patient who developed mutilans-type arthropathy, splenomegaly, leukopenia, leg ulcer and massive hydroxyapatite accumulation during the course of progressive systemic sclerosis (PSS) was reported. A 56-years-old female had suffered Raynaud's phenomenon since the beginning of her third decade. She

Infantile systemic hyalinosis.

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Infantile systemic hyalinosis is a rare disorder characterized by widespread deposition of hyaline. They usually present with skin lesions, joint contractures, and intractable diarrhea. We report a 2 year 4 month old boy with growth retardation, typical facial appearance, gingival enlargement,

Infantile systemic hyalinosis.

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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, thickened skin with hyperpigmentation over prominences,

Infantile systemic hyalinosis: newly recognized disorder of collagen?

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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 joints and over the malleoli, gingival hyperplasia,

Atypical presentation of scleroderma in infancy.

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We present a case of a female child who had developed progressive skin tightening of whole body, sclerodactyly, and severe contracture of all joints with restricted opening of mouth with disease onset at 6 weeks of life. The child also had anemia, failure to thrive, recurrent diarrhea, and ascites.

Constipation as an Atypical Sign of ARC Syndrome - Case Report.

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Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation

Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.

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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

Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis.

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Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both

Infantile systemic hyalinosis in a black infant.

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A black girl was born with flexion contractures and experienced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasia, perianal nodules, torticollis, diarrhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly

Infantile systemic hyalinosis.

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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

Intrathecal baclofen toxicity in a patient with acute kidney injury.

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A 9-year old male patient with a past medical history of congenital cytomegalovirus (CMV) infection and spastic quadriplegic cerebral palsy with an intrathecal baclofen pump was admitted to a tertiary care hospital with respiratory depression and unresponsiveness for approximately two days. He had a

Prevalence of nutrition-related problems among long-term survivors of allogeneic marrow transplantation.

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The nutritional status and prevalence of nutrition-related problems in 192 adult and child allogeneic marrow transplant recipients were evaluated 1 year after transplant in a retrospective chart review. Among these patients, 63% exhibited evidence of chronic graft-versus-host disease (GVHD) at the

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

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We retrospectively reviewed 19 patients (11 male, 8 female) with infantile systemic hyalinosis (ISH) seen at a tertiary care hospital. Fifteen patients (83.3%) presented in the neonatal period. The referral diagnosis was inaccurate in 14 patients (73.7%). Thirteen patients were products of

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