Infantile systemic hyalinosis
| Classification according to ICD-10 | |
|---|---|
| E78.8 | Other disorders of lipoprotein metabolism |
| ICD-10 online (WHO version 2019) | |
The infantile systemic hyalinosis is a very rare congenital form a fibromatosis with a deposit of hyaline material in the skin , skeletal and cardiac muscle , gastrointestinal tract , lymph nodes , spleen , thyroid and adrenal glands .
Synonyms are: systemic hyalinosis; Fibromatosis, hyaline juvenile
The first description comes from 1962 by the Croatian dermatologist S. Puretić and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far fewer than twenty people have been reported. Inheritance is autosomal - recessive .
root cause
The disease are mutations in ANTXR2 - gene on chromosome 4 locus q21.21 based encoding the anthrax toxin receptor 2, in the formation of the capillaries is involved.
Mutations in this gene are also the basis for juvenile hyaline fibromatosis , a milder form of congenital systemic hyalinosis. This is sometimes no longer seen as an independent disease, but as a variant.
Both clinical pictures (infantile systemic hyalinosis and juvenile hyaline fibromatosis) can be summarized as Inherited Systemic Hyalinosis or Hyaline Fibromatosis Syndrome .
Clinical manifestations
Clinical criteria are:
- Manifestation already at birth or in infancy
- Possibly already intrauterine growth retardation
- Joint swelling with joint contractures
- thickened, less elastic skin
- Increased pigmented nodules on the face, neck and scalp
- massive gingival hyperplasia
- perianal nodules
- Often tendency to infections, therapy-resistant diarrhea due to protein loss, enteropathies , failure to thrive and osteopenia
diagnosis
The diagnosis is based on the clinical findings and can be confirmed histologically by taking a tissue sample due to the accumulation of hyaline substance in the body tissue.
Differential diagnosis
The following are to be distinguished:
- Juvenile hyaline fibromatosis (see above cause)
- MONA spectrum
- Urbach-Wiethe syndrome
- Hunter's disease
- Farber Syndrome
- I cell disease
- Pseudo-Hurler polydystrophy
- Infantile myofibromatosis
- Stiff skin syndrome
- Infantile cortical hyperostosis
Prospect of healing
The disease gets worse and worse, most of the affected people die within the first two years of life due to respiratory infections and diarrhea . In adulthood joint contractures are in the foreground.
literature
- N. Elenga, C. Chenel, M. Besnard, J. Pasche, S. Darteyre, H. Gatti, MP De Barthez, F. Yang, A. Verloes: Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival. In: European journal of dermatology: EJD. Vol. 27, No. 3, June 2017, pp. 328–329, doi: 10.1684 / ejd.2017.3007 , PMID 28524048 .
- ML Aggarwal, V. Chilakamarri, VS Chennuri, M. Karra: Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature. In: Journal of orthopedic case reports. Vol. 6, No. 1, 2016 Jan-Mar, pp. 69-71, doi: 10.13107 / jocr.2250-0685.382 , PMID 27299133 , PMC 4845419 (free full text).
Individual evidence
- ↑ a b c d e f Hyalinosis, infantile systemic. In: Orphanet (Rare Disease Database).
- ↑ a b c d Gene Reviews
- ↑ S. Puretić, B. Puretić, M. Fiser-Herman, M. Adamćić: A unique form of mesenchymal dysplasia. In: The British journal of dermatology. Vol. 74, January 1962, pp. 8-19, PMID 14489244 .
- ↑ a b c Genetics Home Reference
- ↑ Hyaline fibromatosis syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ Fibromatosis, hyaline juvenile. In: Orphanet (Rare Disease Database).
- ^ Infantile myofibromatosis. In: Orphanet (Rare Disease Database).
- ^ Myofibromatosis, infantile, 1st In: Online Mendelian Inheritance in Man . (English)
- ↑ Stiff skin syndrome. In: Orphanet (Rare Disease Database).
- ↑ Stiff skin syndrome. In: Online Mendelian Inheritance in Man . (English)
