Dermotrichal Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q80.3 | Bullous congenital ichthyosiform erythroderma |
| ICD-10 online (WHO version 2019) | |
The Dermotrichale Syndrome ( ancient Greek δέρμα dérma , German 'skin' and τριχ- trich- , German 'hair' ) is a special form of ectodermal dysplasia with the main features ichthyosis , short stature and skeletal changes.
Must be distinguished is the Dermot Richie syndrome .
It was first described in 1984 by Newton Freire-Maia and colleagues.
root cause
Cause of the disease are mutations in MBTPS2- gene at the locus Xp22.12-p22.11 to a disorder of cholesterol - homeostasis .
Occurrence
The frequency is not known, the inheritance is probably X-linked - recessive .
Clinical manifestations
Clinical criteria are:
- Generalized ichthyosis and lack of hair from birth
- Short stature
- Mental retardation
- Seizures
Differential diagnosis
The main distinction is the dermatrichia syndrome.
Compared to dermatrichia syndrome, there are abnormalities in the skeleton and intestinal tract , but not in the eyes and respiratory tract . There are changes to the nails, hypohidrosis , megacolons and vertebral body defects, but neither photophobia nor respiratory infections . In the differential diagnosis, mucoepithelial hereditary dysplasia and cardio-facial-cutaneous syndrome must also be distinguished .
literature
- F. Martino, P. D'Eufemia, MS Pergola, R. Finocchiaro, M. Celli, G. Giampà, M. Frontali, O. Giardini: Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome . In: American journal of medical genetics. Vol. 44, No. 2, September 1992, pp. 233-236, doi: 10.1002 / ajmg.1320440222 , PMID 1456297 .
Individual evidence
- ↑ Dermotrichal Syndrome. In: Orphanet (Rare Disease Database).
- ^ Newton Freire-Maia, M. Pinheiro: Ectodermal Dysplasias. A Clinical and Genetic Study . Alan R. Liss, New York 1984, p. 126-127 (English).
- ↑ a b IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME. In: Online Mendelian Inheritance in Man . (English)
- ↑ Abdullah Alfadley, Khalid Al Hawsawi, Khalid Al Aboud: follicular ichthyosis. A Case Report and Review of the Literature . In: Pediatric Dermatology . tape 20 , no. 1 , 2003, p. 48-51 , PMID 3127745 (English).
