Infantile systemic hyalinosis

Infantile systemic hyalinosis: Description, Causes and Risk Factors:Infantile systemic hyalinosisInfantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues.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, fleshy nodules in the perianal region, diarrhea, increased susceptibility to bone fractures, infections, and failure to thrive. This is a progressive disorder that may lead to death within first 2 years of life, mostly due to recurrent chest infection and diarrhea.Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.The prevalence of infantile systemic hyalinosis is unknown. Fewer than 13 people with this disorder have been reported in the Medical literature.Symptoms:The signs and symptoms of this condition are present at birth or develop within the first few months of life. Infantile systemic hyalinosis is characterized by painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They also develop in joint creases and the genital region. These skin bumps may be large or small and often increase in number over time.Lumps of non-cancerous tissue also form in the muscles and internal organs of children with infantile systemic hyalinosis, causing pain and severe complications. Most affected individuals develop a condition called protein-losing enteropathy due to the formation of lumps in their intestines. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia).Infantile systemic hyalinosis is also characterized by overgrowth of the gums (gingival hypertrophy). Additionally, people with this condition have joint deformities (contractures) that impair movement. Affected individuals may grow slowly and have bone abnormalities.Although children with infantile systemic hyalinosis have severe physical limitations, mental development is typically normal. Affected individuals often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.Diagnosis:Diagnosis is clinical and can be further supported by histological evidence of deposition of amorphous hyaline material in the skin or mucosae. Juvenile hyaline fibromatosis, Winchester syndrome, lipoid proteinosis and type II mucopolysaccharidosis should be considered in the differential diagnosis.Treatment:No specific treatment is available for infantile systemic hyalinosis. Early surgical excision is recommended by some authors for those lesions that either present a significant cosmetic problem or produce some degree of functional impairment. However, excision may be followed by recurrences. Spontaneous regression has been reported in some cases, but long-term regression is unlikely and tumors continue to increase in size and number. Intralesional steroid injection may reduce the size of early lesions. Capsulotomy of joints may show some temporary, beneficial effect. Gingival overgrowth may be treated with partial gingivectomy. Oral D-penicillamine has been used in some cases with apparent improvement in joint mobility and flexibility. Therapeutic trials with dimethyl sulfoxide (Kemsol®), ketotifen (Zaditor™) and calcitriol (Calcijex®) have been given in individual cases.Physical therapy and Nutritional support improve the quality of life of the patients.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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