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• W2060844002 abstract "We read with interest the study by Spiliopoulos et al.1Spiliopoulos M. Jayakar P. Spiliopoulos D. Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis.J Pediatr. 2012; 160: 523Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar Although the nomenclature (systemic hyalinosis) used in their study indicates that infantile systemic hyalinosis and juvenile hyaline fibromatosis represent a single disease of varying severity, the term “systemic” excludes several patients with localized forms,2Nofal A. Sanad M. Assaf M. Nofal E. Nassar A. Almokadem S. et al.Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.J Am Acad Dermatol. 2009; 61: 695-700Abstract Full Text Full Text PDF PubMed Scopus (67) Google Scholar, 3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar including the boy reported by the authors. Thus, the adoption of another single term—hyaline fibromatosis syndrome (HFS)—seems to make the clinicopathological correlation in a clearer and simpler way for diagnosis.2Nofal A. Sanad M. Assaf M. Nofal E. Nassar A. Almokadem S. et al.Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.J Am Acad Dermatol. 2009; 61: 695-700Abstract Full Text Full Text PDF PubMed Scopus (67) Google Scholar, 3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar In addition, patients with HFS can be divided into mild, moderate, severe, and lethal subtypes (eg, the boy reported by Spiliopoulos et al could be classified as moderate) according to the modified severity grading system recently proposed by our group.3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar Histologically, along with involvement of the papillary dermis,1Spiliopoulos M. Jayakar P. Spiliopoulos D. Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis.J Pediatr. 2012; 160: 523Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar HFS also involves the deposition of hyaline material in the reticular dermis.2Nofal A. Sanad M. Assaf M. Nofal E. Nassar A. Almokadem S. et al.Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.J Am Acad Dermatol. 2009; 61: 695-700Abstract Full Text Full Text PDF PubMed Scopus (67) Google Scholar, 3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar Clinically, chronic diarrhea,1Spiliopoulos M. Jayakar P. Spiliopoulos D. Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis.J Pediatr. 2012; 160: 523Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar recurrent infection,2Nofal A. Sanad M. Assaf M. Nofal E. Nassar A. Almokadem S. et al.Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.J Am Acad Dermatol. 2009; 61: 695-700Abstract Full Text Full Text PDF PubMed Scopus (67) Google Scholar, 3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar organ failure, and septicemia3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar have been reported as important aspects of HFS that directly affect prognosis and require adequate management.3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar Given that gingival involvement may compromise feeding ability, oral hygiene, and esthetics,3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar, 4El-Maaytah M. Jerjes W. Shah P. Upile T. Murphy C. Ayliffe P. Gingival hyperplasia associated with juvenile hyaline fibromatosis: a case report and review of the literature.J Oral Maxillofac Surg. 2010; 68: 2604-2608Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar what criteria did the authors use to make their decision to not perform a gingivectomy (considered the first-choice treatment3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar, 4El-Maaytah M. Jerjes W. Shah P. Upile T. Murphy C. Ayliffe P. Gingival hyperplasia associated with juvenile hyaline fibromatosis: a case report and review of the literature.J Oral Maxillofac Surg. 2010; 68: 2604-2608Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar) in the reported patient? What are the criteria to indicate the need for gingivectomy? Finally, because HFS typically progresses with the appearance of new cutaneous lesions and local recurrence after surgical resection, multiple attempts at surgical treatment can sometimes be as crippling as the disease itself.3Denadai R. Raposo-Amaral C.E. Bertola D. Kim C. Alonso N. Hart T. et al.Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.Am J Med Genet A. 2012; 158A: 732-742Crossref PubMed Scopus (49) Google Scholar, 5Woyke S. Domagala W. Markiewicz C. A 19-year follow-up of multiple juvenile hyaline fibromatosis.J Pediatr Surg. 1984; 19: 302-304Abstract Full Text PDF PubMed Scopus (37) Google Scholar What is the optimal timing for surgery in a patient with HFS—early, or only when the lesions determine esthetic and/or functional impairment? Facial Dysmorphism and Skin Manifestations in a Patient with Inherited Systemic HyalinosisThe Journal of PediatricsVol. 160Issue 3PreviewA 2-year-old boy had a history of progressive elbow contractures and pain with movement starting at 3 months of age and progressively worsening. Distal arthrogryposis was initially diagnosed. Physical examination revealed marked lip and gingival hypertrophy with absent teeth. Skin nodules surrounded the alae nasi, giving the patient a coarse facial appearance (Figure, A). Characteristic pearly papules were present in the ears (Figure, B), and fleshy lesions had developed perianally, requiring surgical excision. Full-Text PDF ReplyThe Journal of PediatricsVol. 161Issue 1PreviewWe appreciate the Letter to the Editor by Denadai et al. They raised a valid point that the current nomenclature for inherited systemic hyalinosis does not accurately describe several of the reported patients in the literature because some of them have only localized involvement of the skin, gingivae, or joints and likely a better prognosis. Hyaline fibromatosis syndrome is a broader term that can apply to all patients regardless of the severity of their presentation. In addition, we read with great interest their cited study1 and greet their efforts to improve on the existing grading system of Nofal et al. Full-Text PDF" @default.
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