Ultrasound findings in infantile systemic hyalinosis

Abstract

To describe clinical and ultrasound findings in a patient with infantile systemic hyalinosis (ISH). A 5-month-old boy was evaluated of joint contractures. In addition to clinical and laboratory investigations, an ultrasound of his joints was done and compared to a child with similar age. On examination, a short neck, gingival hyperplasia and papular rash were noted. Joint examination showed painful passive movement, reduced range of motion, and joint contractures in knees, elbows, and small joints of the hands, without any evidence of synovial thickness. Ultrasound of the affected joints showed irregular cortical surface of MCPs and PIP, the presence of osteophytes and bone erosions, increased synovial fluid without evidence of synovial hyperplasia. This is the first report to show evidence of US findings in ISH. Ultrasound findings may help to distinguish ISH from JIA in early stages.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

“…To date, only about 70 cases have been reported worldwide [Ribeiro et al, 2009; El‐Maaytah et al, 2010; Park et al, 2010]. ISH is a disorder even more rare [Félix et al, 2004; Urbina et al, 2004; Antaya et al, 2007; Mendonça et al, 2011]. To the best of our knowledge, the cases reported here are five of the very few reports on JHF/ISH in Brazilian patients.…”

“…To the best of our knowledge, the cases reported here are five of the very few reports on JHF/ISH in Brazilian patients. A comprehensive literature review found eight Brazilian patients [Félix et al, 2004; Muniz et al, 2006; Brandão et al, 2009; Ribeiro et al, 2009; Mendonça et al, 2011].…”

“…JHF and ISH share many similarities, including clinical characteristics [Dowling et al, 2003; Urbina et al, 2004; Muniz et al, 2006; Mallet et al, 2010], identical histopathologic patterns [Mallet et al, 2010; Park et al, 2010; Slimani et al, 2011], and mutation in the same gene ( ANTXR2 ) [Dowling et al, 2003; Hanks et al, 2003], demonstrating that both entities represent different degrees of severity of the same disorder [Urbina et al, 2004; Nofal et al, 2009]. ISH would be the most severe form [Mancini et al, 1999; Urbina et al, 2004; Antaya et al, 2007] presenting with early onset (first weeks or months of life), failure to thrive, short stature, diffuse thickening of the skin, hyperpigmented plaques on bony prominences, systemic involvement (visceral), persistent diarrhea, recurrent infections, and death before 2 years of age [Félix et al, 2004; Mendonça et al, 2011]. On the other hand, JHF would be the milder form [Urbina et al, 2004; El‐Maaytah et al, 2010] because it is usually less severe [Nofal et al, 2009; El‐Maaytah et al, 2010] with later onset (3 months to 4 years of age) [Muniz et al, 2006], and most patients survive until the fourth decade of life [Slimani et al, 2011].…”

“…Juvenile hyaline fibromatosis (JHF; OMIM 228600) is a rare, autosomal recessive disorder [Ribeiro et al, 2009; El‐Maaytah et al, 2010] of the connective tissue [Güldner et al, 2009] that is characterized by the abnormal growth of hyalinized fibrous tissue [El‐Maaytah et al, 2010] that determines the appearance of skin lesions (nodules and/or pearly papules) and the involvement of other organs (gingiva, joints, and bones) [Antaya et al, 2007; Dhingra et al, 2008; Park et al, 2010; Slimani et al, 2011]. Infantile systemic hyalinosis (ISH; OMIM 236490) is a similar condition with an earlier age of onset, visceral involvement, and early lethality [Félix et al, 2004; Mendonça et al, 2011]. Until the molecular mechanism involved in these disorders was identified, several authors argued whether JHF and ISH are separate disorders or part of the same disease [Urbina et al, 2004; Nofal et al, 2009].…”

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

“…It is characterized by a more severe presentation than JHF and has an early onset (first weeks or months of life) and symptoms that include failure to thrive, short stature, diffuse thickening of the skin, hyperpigmented plaques over the joints, visceral involvement, persistent diarrhea and recurrent infections, and death usually occurs within the first 2 years of life [11–13]. …”