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Juvenile hyaline fibromatosis - Skin in Infant/Neonate
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Juvenile hyaline fibromatosis - Skin in Infant/Neonate

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Contributors: Mari M. Batta DO, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Juvenile hyaline fibromatosis is a rare autosomal recessive disorder characterized by cutaneous lesions, gingival hypertrophy, joint contractures, and osteolytic lesions in infancy or early childhood. This entity arises from mutation in the gene encoding capillary morphogenesis protein 2 (CMG2) on chromosome 4p21, leading to impaired collagen synthesis with deposits of hyaline material in connective tissue of the skin and gingiva as well as the bones and joints. There is no sex or race predilection, but many affected individuals are born to consanguineous parents.

Cutaneous lesions are asymptomatic and slow growing, presenting as pink papules or nodules, commonly on the head, back, and knees. Gingival hypertrophy may be severe enough to interfere with feeding, leading to malnutrition as well as recurrent infections. The most debilitating features are the progressively painful joint contractures, often of the knees, elbows, fingers, and hip joints.

Patients do not have systemic involvement, but this progressive disabling disorder causes most adolescent and adults to become bedridden, with most surviving only to the fourth decade. 

Codes

ICD10CM:
M72.8 – Other fibroblastic disorders

SNOMEDCT:
238861002 – Juvenile hyaline fibromatosis

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Infantile systemic hyalinosis – Earlier onset; more serious form with diffuse skin thickening, diarrhea, frequent severe infections, and fatal outcome.
  • Gingival fibromatosis – Limited to gingiva.
  • Congenital generalized fibromatosis – Visceral involvement and death shortly after birth.
  • Winchester syndrome – Short stature, osteopenia, corneal opacities; skin lesions are not common.
  • Neurofibromatosis – Older children, café au lait macules, axillary or inguinal freckling, Lisch nodules, neurofibromas.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 09/04/2013
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Juvenile hyaline fibromatosis - Skin in Infant/Neonate
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Juvenile hyaline fibromatosis : Gingival hypertrophy, Joint contractures, Nose, Trunk, Firm papules, Ears, Firm nodules, Knees
Clinical image of Juvenile hyaline fibromatosis
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