Dermotrichia Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q80.3 | Bullous congenital ichthyosiform erythroderma |
| ICD-10 online (WHO version 2019) | |
The Dermot Richie syndrome ( ancient Greek δέρμα Derma , German , "skin" ' and τριχ- funnel- , German , "Hair"' ) is a very rare congenital disease with the three cardinal symptoms ichthyosis (ichthyosis follicularis), alopecia , and photophobia , therefore, also the acronym IFAP syndrome.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive or sporadic also autosomal dominant .
root cause
The cause of the disease are mutations in the MBTPS2 gene at location Xp22.12-p22.11 with a disruption of cholesterol homeostasis.
Clinical manifestations
Clinical criteria are:
- Congenital follicular ichthyosis with extensive, thorn-like, symmetrically distributed follicular outgrowths, especially on the scalp and the extensor sides of the extremities
- Alopecia with complete hairlessness of the body
- missing eyebrows and eyelashes
- Photophobia even in toddlers
- Ulcers of the cornea with increasing scarring and loss of vision
Transmitters may show milder symptoms.
diagnosis
If there is clinical suspicion, the diagnosis is confirmed by analysis of the MBTPS2 gene, which also enables prenatal diagnosis.
Differential diagnosis
Must be distinguished is the Dermotrichale syndrome that Mukoepitheliale hereditary dysplasia , the KID syndrome and keratosis follicularis decalvans .
therapy
The treatment of follicular hyperkeratosis is carried out with keratolytics, emollients and urea preparations. It is very important to keep the surface of the eye moist.
Prospect of healing
The prognosis is different. Some patients die as newborns; others have a normal life expectancy. In most cases, the loss of vision leads to a loss of autonomy. The main causes of death are complications from the heart and lungs.
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, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320440222 . PMID 1456297 .
Individual evidence
Web links
Dermotrichia Syndrome. In: Online Mendelian Inheritance in Man . (English)
