2013.3-2S.EPONYMSNether

                                                                                                                            article in PDF  
Our Dermatol Online.  2013; 4(Suppl. 2): 422-423
DOI:.  10.7241/ourd.20133.107
Date of submission:  01.05.2013 / acceptance: 18.06.2013
Conflicts of interest: None
 

EPONYMS IN THE DERMATOLOGY LITERATURE LINKED TO NETHERLANDS

Khalid Al Aboud1, Ahmad Al Aboud2

1Department of Public Health, King Faisal Hospital, Makkah, Saudi Arabia
2Dermatology Department, King Abdullah Medical City, Makkah, Saudi Arabia
 

Corresponding author:  Dr. Khalid Al Aboud    e-mail: amoa65@hotmail.com


 

The Netherlands is a constituent country of the Kingdom of the Netherlands, consisting of twelve provinces in North-West Europe and three islands in the Caribbean. The Netherlands has an estimated population of 16,778,806 (as of 31 January 2013). The official language is Dutch, which is spoken by the vast majority of the inhabitants. In May 2011, the Netherlands was ranked as the „happiest” country according to results published by the The Organisation for Economic Co-operation and Development (OECD). It is, also, one of the world’s 10 leading exporting countries [1]. There are many medical eponyms originated from Netherlands. The famous website, who named it, listed more than 45 medical eponyms linked to Netherlands. In Table I [2-11], we listed highlighted on selected eponyms, in dermatology literature linked to Netherlands.
 
Eponyms in the dermatology
literature linked to Netherlands
Remarks
Cornelia de Lange Syndrome
(CDLS) [2-3]
It is also known as Brachman de Lange syndrome or Amsterdam dwarf,.It is characterized by a typical facies along with hypertrichosis, cutis marmorata and a bluish discoloration of the facial skin. Skeletal abnormalitites, mental retardation and abnormal cry are also present. It is named for Cornelia de Lange (1871-1950), (Fig. 1), a Dutch pediatrician.The first ever documented case was in 1916 by Winfried Robert Clemens Brachmann (1888-1969), a German physician, followed up by Cornelia Catharina de Lange, in 1933.
Figure 1. Cornelia Catharina de Lange (1871-1950)
Ellis-van Creveld syndrome [4-7]
It is often termed as Bushy Syndrome and is also known as Amsterdam dwarfism. It is a genetic disorder that can lead to severe developmental anomalies.It is characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. It is named after Simon van Creveld (1894-1971), who was a Dutch paediatrician.Richard White Bernhard Ellis (1902- 1966), was an English paediatrician.
Waardenburg syndrome (WS) [8-11]
It is a rare autosomal dominant or autosomal recessive disorder that is characterized by various combinations of clinical features.WS is named after a Dutch ophthalmologist, Petrus Johannes Waardenburg (1886-1979), (Fig. 2), who described the syndrome in 1951.
The major criteria are sensorineural hearing loss, iris pigmentary abnormality (two eyes different color or iris bicolor or characteristic brilliant blue iris), hair hypopigmentation (white forelock or white hairs at other sites on the body), dystopia canthorum (lateral displacement of inner canthi) and the presence of a first-degree relative previously diagnosed with WS. WS type 2 lacks dystopia canthorum of WS1. Apart from the associated upper limb anomalies (e.g. hypoplasia, syndactyly) WS type 3 (WS3; Klein- Waardenburg syndrome) is similar to WS1. In addition to the features of WS1, type 4 WS (WS4; Shah- Waardenburg syndrome) is associated with features of Hirschsprung disease. David Klein (1908-1993), was a Swiss human geneticist and ophthalmologist. Krishnakumar N. Shah, was an Indian physician. Harald Hirschsprung (1830-1916), was a Danish paediatrician.
Figure 2. Petrus Johannes Waardenburg (1886-1979)

                 Table I. Selected Eponyms in the dermatology literature linked to Netherlands

 
REFERENCES
1. Netherlands.Wikipedia® [Internet]. Wikimedia Foundation. [Updated 30 April 2013; cited 30 April 2013]. Available from: http:// en.wikipedia.org/wiki/Netherlands
2. Hakulinen E: [The woman behind the syndrome: Cornelia de Lange. A successful scientist–a popular pediatrician]. Lakartidningen. 1988;85:2195-6.
3. Muhammed K, Safia B: Cornelia de Lange syndrome. Indian J Dermatol Venereol Leprol. 2003;69:229-31.
4. Emed A: [Simon Van Creveld (1894-1971)]. Harefuah. 2000;138:418-9.
5. Jenkins S, Morrell DS: Ellis-van Creveld syndrome: case report and review of the literature. Cutis. 2009;83:303-5.
6. Bhat YJ, Baba AN, Manzoor S, Qayoom S, Javed S, Ajaz H: Ellis-van Creveld syndrome with facial hemiatrophy. Indian J Dermatol Venereol Leprol. 2010;76:266-9.
7. Jayaraj D, Maheswaran T, Suresh R, Ganapathy N: Ellis-van Creveld. J Pharm Bioallied Sci. 2012;4(Suppl 2):S153-6.
8. Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair with congenital deafness. Am J Hum Genet. 1951;3:195–253.
9. Opitz JM: In memoriam: Petrus Johannes Waardenburg, 1886– 1979. Am J Med Genet. 1980;7:35-9.
10. Williamson KF: Petrus Johannes Waardenburg, MD. Br J Ophthalmol. 1980;643:224.
11. Ghosh SK, Bandyopadhyay D, Ghosh A, Biswas SK, Mandal RK: Waardenburg syndrome: a report of three cases. Indian J Dermatol Venereol Leprol. 2010;76:550-2.


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