Cervera-Gaviria M, García-Sánchez J, Juárez-Vignon WJJ, Legorreta-Ramírez BGL

Language: Spanish
References: 28
Page: 274-281
PDF size: 819.15 Kb.

ABSTRACT

Background: Hyaline fibromatosis syndrome is an exceptional disease of the connective tissue, with an autosomal recessive inheritance pattern, characterized by multiple subcutaneous nodules in the skin, gingival hypertrophy, joint contractures, among others.
Clinic case: 5-year-old pediatric patient, with a family history of a brother who died at 2 years of age due to bronchopneumonia, with joint contractures from birth, ulnar deviation of both arms and hip dislocation, diagnosed with congenital multiple arthrogryposis. The case presented here, from birth suffered contractures, lack of extension and flexion in the upper and lower limbs, and ulnar deviation in both hands. The first year of life he showed papular lesions in the neck and perianal region, and subcutaneous nodular lesions in both auricular folds gingival hypertrophy, hyperpigmentation at the pressure sites and bone protrusions from 2.5 years. At 3 years he went to the Centro de Rehabilitación e Inclusión Teletón (CRIT) Estado de México, with a diagnosis of congenital multiple arthrogryposis. Radiographs of the upper and lower extremities showed widespread osteopenia and increased radiolucence diffusely. Subcutaneous atrial nodule biopsy reported PAS positive hyaline material. Based on the clinical find ings, the diagnosis of hyaline fibromatosis syndrome was established. The treatment consisted of physical, occupational, pulmonary and language therapies, with a favorable outcome. His general physical conditions worsened after 5 years; he began with severe arthralgia recurrent lung infections and diarrhea that was difficult to control. He died at age 8 from bronchopneumonia acquired in the community.
Conclusions: The initial diagnosis of patients with hyaline fibromatosis syndrome is established by clinical findings. It is important to establish the differential diagnosis with congenital multiple arthrogryposis.

REFERENCES

1. Maral R, et al. Systemic hyalinosis with heterozygous cmg2 mutations. a case report and review of literature. J Dermatopathol 2016;38:e60-e63.

2. Prabhas PG, et al. Infantile systemic hyalinosis. Indian Pediatr 2012;49:62-63.

3. Rahman N, et al. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet 2002;71(4):975-80.

4. Youssefian L, et al. The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. BMC Med Genet 2018;18(87):1-5.

5. Haidar Z, et al. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. BMC Genet 2017;18(3):1-13

6. Bürgi J, et al. CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun 2017;8:15861.

7. Casas D, et al. Hyaline fibromatosis syndrome: clinical update and phenotype- genotype correlations. Hum Mutat 2018;39(12):1752-1763.

8. Krishnamurthy J, et al. Juvenile Hyaline Fibromatosis. Indian J Dermatol 2011;Nov;56(6):731-3.

9. Marques SA, et al. Hyaline fibromatosis syndrome: Cutaneous manifestations. An Bras Dermatol 2016;91(2):226-9.

10. Tzellos TG, et al. Differential expression of matrix metalloproteinases and proteoglycans in juvenile hyaline fibromatosis. J Dermatol Sci 2011;61:94-100.

11. Bradao FV, et al. Case for diagnosis. An Bras Dermatol 2009;84(6):677-9.

12. Schussier E, et al. Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. Adv Genomics Genet 2018;8:17-21.

13. Kan AE, et al. Juvenile hyaline fibromatosis: an expanded clinicopathologic spectrum. Pediatr Dermatol 1989;6(2):68-75.

14. .Gupta LK, et al. Juvenile hyaline fibromatosis in siblings. Dermatol Venereol Leprol 2005;71(2):115-8.

15. Bordela MT, et al. Casos breves: fibromatosis hialina juvenil. Actas Dermosifiliogr 2004; 95(1):54-7.

16. Shieh JTC, et al. Hyalinosis, inherited systemic. En: Adam MP, et al, editors. Seattle: University of Washington, 1993; 2018.

17. Nischal KC, et al. Juvenile hyaline fibromatosis. J Postgrad Med 2004;50(2):125-6.

18. Hanks S, et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73 (4):791-800.

19. Kalgaonkar PS, et al. Juvenil hyaline fibromatosis-a rare autosomal recessive disease. J Clin Diagn Res 2017;11(7):SD04- SD06.

20. Álvarez P, et al. Abordaje clínico y diagnóstico de la artrogriposis. Acta Pediatr Mex. 2019;40(1):44-50.

21. Rahvar M, et al. Systemic hyalinosis with heterocygous CMG2 mutations. A case report and review of literature. Am J Dermopathol 2016;38:e60-63.

22. Nofal A, et al. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system. J Am Acad Dermatol 2009;61(4):695-700.

23. Soni JP, et al. infantile systemic hyalinosis: novel founder mutation in the initiation codon among “malis (Farmers)” in Jodhpur. Indian J Pediat. 2016;83(11):1241- 1345.

24. Mantri MD, et al. Hyaline Fibromatosis Syndrome: A rare inherited disorder. Indian J Dermatol 2016; 61(5):580.

25. Lim AA, et al. Juvenile hyaline fibromatosis: report of a case and comparison with infantile systemic hyalinosis. J Oral Maxillofac Surg 2005;63(2):271-4.

26. Castiglione D, et al. Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. Skeletal Radiol 2018;47(3):425-431.

27. Tang, et al. Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis. Int J Dermatol 2016;55(8):903-5.

28. Abduljabbar MH. A case report of juvenile hyaline fibromatosis. J Dermatol 2014;18:38-42.