EEC syndrome

Classification according to ICD-10
Q82.4	Ectodermal dysplasia (anhidrotic)
ICD-10 online (WHO version 2019)

The EEC syndrome , acronym for E ktrodaktylie - E ktodermale dysplasia - C left for cleft lip and palate (CLP) is a rare congenital disease with the main features of a combination of gap formation in hand or foot , cleft lip and palate - Cleft and ectodermal dysplasia.

The demarcation as a clinical picture was made in 1970 by the German human geneticists in Roswitha A. Rüdiger , E. Haase and Eberhard Passarge .

distribution

The frequency is unknown; more than 300 patients have been described to date. The inheritance is autosomal dominant .

Cause and classification

Depending on the underlying genetic change, the following types can be distinguished:

Type 1 , with malformations of the auricles , middle and inner ear , mutations at gene location 7q11.2-q21.3
Type 3 , with over 90% by far the most common "missense" mutations in the TP63 gene at 3q27, which codes for the TP63 transcription factor, which is required for the development of the ectoderm and the limbs.
(Type 2 is omitted)

Clinical manifestations

The syndrome is very variable in its appearance. Clinical criteria are:

Cleft hand and / or cleft foot often asymmetrical, syndactylia
LKG mostly on both sides, possibly only cleft lip without cleft palate
Atresia of the lacrimal ducts , photophobia , chronic blepharitis and conjunctivitis , dacryocystitis , blue iris
Too small ( microdontia ) or partially missing ( hypodontia ) tooth systems, narrow, pin-shaped incisors

little hair on the head, eyebrows and eyelashes with blond curly hair

dysplastic auricles , hearing loss , choanal atresia

Hyperkeratosis , nail dysplasia, nipples that are too small , hypohidrosis

Kidney and lower urinary tract dysplasia

diagnosis

With the help of fine ultrasound , some changes can already be detected in the womb, and a genetic test can confirm the diagnosis.

Differential diagnostics

There are other forms of ectodermal dysplasia such as Rosselli-Gulienetti syndrome and Hay-Wells syndrome .

Prospect of healing

The prognosis is favorable and life expectancy is not restricted. Treatment for hypohidrosis is essential because it can cause the most common complications.

history

The first description was probably made in 1804 by the German doctors Johann Gottlob Eckholdt and Franz Heinrich Martens .

literature

M. Koul, R. Dwivedi, V. Upadhyay: Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). In: Journal of oral biology and craniofacial research. Volume 4, No. 2, May – Aug 2014, pp. 135–139, doi: 10.1016 / j.jobcr.2014.08.002 . PMID 25737931 , PMC 4252378 (free full text).
HR Wiedemann, H. Dibbern: “EEC” syndrome. In: The Medical World. Volume 31, Nos. 51-52, December 1980, pp. 1862-1863. PMID 7464536 .

Individual evidence

↑ ^a ^b ^c ^d ^e ^f EEC syndrome. In: Orphanet (Rare Disease Database).
↑ ^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 .
^ RA Rüdiger, W. Haase, E. Passarge: Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. In: American journal of diseases of children (1960). Volume 120, No. 2, August 1970, pp. 160-163. PMID 5454938 .
^ EEC syndrome-1. In: Online Mendelian Inheritance in Man . (English)
^ EEC syndrome-3. In: Online Mendelian Inheritance in Man . (English)
↑ JG Eckholdt, FH Martens: About a very complex harelip, or a so-called wolf's throat, with a peculiar misrepresentation of the hands and feet on the same subject. Steinacher Verlag, Leipzig 1804.

Web links

Rare Diseases

[Orpha-1] ↑ ^a ^b ^c ^d ^e ^f EEC syndrome. In: Orphanet (Rare Disease Database).

[Leiber-2] 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 .

[3] RA Rüdiger, W. Haase, E. Passarge: Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. In: American journal of diseases of children (1960). Volume 120, No. 2, August 1970, pp. 160-163. PMID 5454938 .

[4] EEC syndrome-1. In: Online Mendelian Inheritance in Man . (English)

[5] EEC syndrome-3. In: Online Mendelian Inheritance in Man . (English)

[6] JG Eckholdt, FH Martens: About a very complex harelip, or a so-called wolf's throat, with a peculiar misrepresentation of the hands and feet on the same subject. Steinacher Verlag, Leipzig 1804.