Infantile myofibromatosis

Classification according to ICD-10
D48.1	New formation of unsafe or unknown behavior at other and unspecified locations - connective tissue and other soft tissue
ICD-10 online (WHO version 2019)

The Infantile myofibromatosis is a rare benign tumor of the soft tissue with nodules in the skin , the Selekttmuskulatur or bone .

Synonyms are: multifocal fibromatosis syndrome; Congenital multiple fibromatosis; Fibromatosis, congenital, generalized; Myofibromatosis, juvenile; English Fibromatosis, Congenital generalized; CGF

The first description comes from 1954 by Arthur Purdy Stout .

distribution

The frequency is given as 1 in 150,000 live births. The disease is the most common fibrous tumor in childhood, 80% have a single lesion, half can be detected at birth or shortly afterwards.

root cause

The disease usually occurs sporadically, rarely only in families.

In these cases were mutations in PDGFRB - gene on chromosome 5 locus q32, which for the tyrosine kinase receptor for factors Platelet Derived Growth encoded or NOTCH3 gene on chromosome 19 p13.12 which the gene expression is activated by PDGRFB detected.

Classification

Depending on the occurrence of the tumors, a distinction can be made:

• Solitary single tumor (75%)
• multiple tumors, limited to the skin and muscles
• multiple tumors involving a single internal organ
• multiple tumors with multiple internal organs

Clinical manifestations

Clinical criteria are:

• Onset of illness at birth or in infancy , 90% within the first two years of life
• Multiple, mostly painless fibromas of the skin, subcutaneous tissue, muscles and skeleton, rarely in the internal organs
• Infiltrating growth, also spontaneous regression possible

Histologically , the tumors contain myofibroblasts .

Differential diagnosis

The following are to be distinguished:

Hemangioma , lymphangioma , neurofibroma , infantile fibrosarcoma , Langerhans cell histiocytosis , inflammatory myofibroblastic tumor, desmoid tumor .

Prospect of healing

If no internal organs are involved, the prognosis is very favorable, and spontaneous regression often occurs. Otherwise there is a high mortality of up to 70% if left untreated .

literature

• O. Dereure: Myofibromatosis infantile sporadique: mutations avec gain de fonction de PDGFRB. In: Annales de dermatologie et de venereologie. Volume 144, No. 8-9, 2017 Aug - Sep, pp. 574-575, doi: 10.1016 / j.annder.2017.05.010 , PMID 28756885 .
• C. Warlitz, R. Kobbe, K. Helmke, P. Höger, D. Singer: Infantile Myofibromatose. In: Journal of Obstetrics and Neonatology. Volume 217, No. 3, June 2013, pp. 112-113, PMID 23967509 .
• A. Ivanov, T. Valyi-Nagy, D. Nikas: Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review. In: European journal of pediatric surgery reports. Volume 4, No. 1, December 2016, pp. 22-25, doi: 10.1055 / s-0036-1580704 , PMID 28018804 , PMC 5177563 (free full text).

Individual evidence

1. ↑ ^{a b c d e f} Myofibromatosis, infantile. In: Orphanet (Rare Disease Database).
2. ↑ Encyclopedia Dermatology
3. ↑ ^{a b} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
4. ^ AP Stout: Juvenile fibromatoses. In: Cancer. Volume 7, No. 5, September 1954, pp. 953-978, PMID 13199773 .
5. ^ Rare Diseases
6. ^ Myofibromatosis, infantile, 1st  In: Online Mendelian Inheritance in Man . (English)
7. ^ Myofibromatosis, infantile 2.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !