Cure of infantile myofibromatosis with severe respiratory complications without antitumour therapy

Zeller, Brandy; Storm-Mathisen, Ingebjørg; Smevik, Bjarne; Sund, Ståle; Danielsen, K.; Lie, S O

doi:10.1007/s004310050725

Cited by 34 publications

(31 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The differential diagnosis of hyalinoses includes, in infancy, congenital generalized myofibromatosis which presents with a picture similar to JHF but differs for the histological findings and the clinical outcome [1, 11, 20]. The stiff skin syndrome [21]shares with ISH and JHF skin induration and joint contracture but is also histologically distinct.…”

Section: Discussionmentioning

confidence: 99%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

View full text Add to dashboard Cite

Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. Observations: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. Conclusion: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.

show abstract

Section: Discussionmentioning

confidence: 99%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

View full text Add to dashboard Cite

show abstract

“…Bone involvement is common in cranio-orbito-facial bones with the possibility of CNS involvement [4,5,10,14]. Lytic lesions of the cervical vertebrae and odontoid may cause atlanto-axial instability and vertebra plana has also been described.…”

Section: Case Historymentioning

confidence: 96%

“…Lytic lesions of the cervical vertebrae and odontoid may cause atlanto-axial instability and vertebra plana has also been described. Long bones may also be aected, presenting sometimes as a pathological fracture with osteolytic lesions [6,14]. Severe hypercalcaemia has been reported with extensive lytic bone lesions [3].…”

Section: Case Historymentioning

confidence: 99%

An infant with multiple soft tissues masses and abnormal radiological bone anomalies

Narchi

2000

European Journal of Pediatrics

View full text Add to dashboard Cite

“…Eine genetische Disposition wird von einigen Autoren vermutet. Dabei wird sowohl eine autosomal dominante als auch eine rezessive Vererbungsform beschrieben [2,3,5,10]. Häufiger erkranken Jungen an infantiler Myofibromatose [6,9].…”

Section: Zum Ausschluss Ektopenunclassified

“…1 / 3 der Fälle. Auffällig ist dabei die Möglichkeit einer initialen Tumorvergrößerung [4,5]. Bei chirurgischer Tumorresektion finden sich Rezidive in 7-10 % der Fälle [4,10,12,13].…”

Section: Zum Ausschluss Ektopenunclassified

Infantile Myofibromatose der Zunge - Ein Fallbericht

Langer¹,

Begall²,

Presch³

et al. 2002

Laryngo-Rhino-Otol

View full text Add to dashboard Cite

The occurrence of these tumors in neonates and young children in the oral cavity and in particular in the tongue is rarely reported. Development of the benign tumor disease depends on the form of the tumor, which can be distinguished between a solitaire, a multiloculaire and a generalized form. In contrast to the other two forms, cases of generalized infantile myofibromatosis involve the visceral organs and have a poor prognosis with a mortality rate of 75 %. Spontaneous remission is often reported in the solitaire and multiloculaire varieties of infantile myofibromatosis.

show abstract

Cure of infantile myofibromatosis with severe respiratory complications without antitumour therapy

Abstract: This case illustrates that even in progressing, complicated multifocal infantile myofibromatosis (without visceral involvement) the lesions can resolve without antitumour treatment if high quality intensive care is supplemented.

Cited by 34 publications

References 17 publications

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

An infant with multiple soft tissues masses and abnormal radiological bone anomalies

Infantile Myofibromatose der Zunge - Ein Fallbericht

Contact Info

Product

Resources

About