2011.4-12.Jadwiga

                                                                                                                            article in PDF  
Our Dermatol Online. 2011; 2(4): 224-225
Date of submission: 25.06.2011 / acceptance: 17.07.2011
Conflicts of interest: None
 

JADWIGA SCHWANN AND HER SYNDROME

JADWIGA SCHWANN I OPISANY PRZEZ NIĄ ZESPÓŁ CHOROBOWY

Khalid Al Aboud

King Faisal Hospital, P.O Box 5440, Makkah 21955, Saudi Arabia
 

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


 

Abstract
Jadwiga Schwann was a dermatologist from Poland. In the 1960s, Schwann reported a rare congenital genodermatosis. This syndrome is characterized by knuckle pads, leukonychia, palmoplanter keratoderma and sensorineural deafness. This report sheds light on Schwann and the syndrome that bears her name.
 
Streszczenie
Jadwiga Schwann była dermatologiem z Polski. W 1960 roku Schwann odnotowała rzadką, wrodzoną genodermatozę. Zespół ten charakteryzuje się objawem knuckle pads, leukonychią, rogowcem dłoni i stóp, głuchotą czuciowo-nerwową. Raport ten rzuca światło na J. Schwann i zespół objawów, który nosi jej imię.
 
Key words:  Jadwiga Schwann była dermatologiem z Polski. W 1960 roku Schwann odnotowała rzadką, wrodzoną genodermatozę. Zespół ten charakteryzuje się objawem knuckle pads, leukonychią, rogowcem dłoni i stóp, głuchotą czuciowo-nerwową. Raport ten rzuca światło na J. Schwann i zespół objawów, który nosi jej imię.
Słowa klucze:  Jadwiga Schwann; congenital genodermatosis; Bart – Pumphrey syndrome

 

Sir
Jadwiga Schwann was a dermatologist from Poland. Among her contributions to dermatology, she is credited for describing a syndrome, in German and Polish languagues [1,2]. This syndrome appeared latter in English literature by Robert S. Bart (Dermatologist) and Robert E. Pumphrey (Otolaryngologist) [3]; both from USA, and so the syndrome was then known as Bart – Pumphrey syndrome [4-10]. Schwann syndrome is cited in the Online Mendelian Inheritance in Man [10], as knuckle pads, leukonychia, and sensorineural deafness (OMIM 149200) .It is mapped to, Gene map locus: 13q11-q12 .It is a rare condition, with which few families are affected worldwide [4-10]. It is characterized by knuckle pads, leukonychia, palmoplanter keratoderma (PPK) and sensorineural deafness. However, this syndrome has a considerable phenotypic variability. The clinical features of this syndrome partially overlap with Vohwinkel syndrome and Keratitis-ichthyosis-deafness syndrome [5]. Bart and Pumphrey reported this autosomal dominant condition in a 6-generation family3. They disputed whether this complex phenotype could be a monogenic defect with pleiotropic expression [3]. A family reported by Crosby and Vidurrizaga [9] established that keratosis palmoplantaris, probably developing only in older affected persons, is part of the syndrome. In a multigeneration Polish family with Bart – Pumphrey syndrome, Richard et al [5], reported a novel nonconservative missense GJB2 mutation, segregating with the disorder. Schwann initially described this condition in families from Poland. Subsequently, cases were also reported from other parts of the world [4-10]. Similar to the condition described by Schwann ; a kindred in which many members had knuckle pads, leukonychia, and deafness due to a lesion of the cochlea, was reported by Bart and Pumphrey [3]. Keratosis palmaris et plantaris was present in some. Male-to-male transmission was thought to have occurred in 2 instances. The presence of leukonychia and the absence of digital constrictions appear to distinguish this disorder from the one listed as 'deafness, congenital, with keratopachydermia and constrictions of fingers and toes' (i.e., Vohwinkel syndrome). The syndrome is best known currently as Bart – Pumphrey syndrome [4-10]. Although the publication of Jadwiga Schwann on this syndrome [1,2], preceded the publication of Bart and Pumphrey [3] by four years. Jadwiga Schwann, born in Poland, was precocious. She was working in Szczecin, which is the capital city of the West Pomeranian Voivodeship in Poland. It is the country's seventh-largest city and the largest seaport in Poland on the Baltic Sea. The first dermatology researches done in Szczecin, were carried out by Schwann. Schwann published several papers in dermatology in German and in Polish [11-22]. He has written on different topics in dermatology including mycology and occupational skin diseases [11-22]. I believe that the misnomer Bart – Pumphrey syndrome should be corrected and the syndrome knuckle pads, leukonychia, and sensorineural deafness, should be credited to the right person who reported it first, and should be referred to it as Schwann syndrome.
 
 
REFERENCES
1. Schwann J: Keratosis palmaris et plantaris with congenital deafness and total leukonychia. Dermatologica. 1963; 126: 335-353. 2. Schwann J: Syndrome of congenital keratosis palmaris et plantaris with congenital deafness and total leukonychia. Przegl Dermatol. 1963; 50: 45-57. 3. Bart RS, Pumphrey RE: Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. N Engl J Med. 1967; 276: 202-207. 4. Ramer JC, Vasily DB, Ladda RL: Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J Med Genet. 1994; 31: 68-71. 5. Richard G, Brown N, Ishida-Yamamoto A, Krol A: Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol. 2004; 123: 856-863. 6. Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE: G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet A. 2005; 136: 282-284. 7. Lee JR, White TW: Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009; 11: e35. 8. Balighi K, Moeineddin F, Lajevardi V, Ahmadreza R: A family with leukonychia totalis. Indian J Dermatol. 2010; 55: 102-104. 9. Crosby E F, Vidurrizaga R H: Knuckle pads, leukonychia, deafness and keratosis palmoplantaris: report of a family. Johns Hopkins Med J 1976; 139: 90-92. 10. Knuckle pads, leukonychia, and sensorineural deafness. A page on the Internet].From OMIM, Online Mendelian Inheritance in Man. Copyright (c) 1966-2011 Johns Hopkins University. (this page was last modified 2004 Nov 11; cited 2011 April 5) .Available at; http://www.ncbi.nlm.nih.gov/omim/149200 11. Schwann J: Mycoses in medical literature of 19th century. Rocz Pomor Akad Med. 1961; 7: 321-332. 12. Schwann J, Willmanska J, Winiarski W: Erythroderma and other cutaneous complications in gold therapy. Przegl Dermatol. 1961; 48: 341-348. 13. Schwann J: Dermatitis caused by Thaumatopoea pinivora caterpillars and their epidemiological significance. Przegl Dermatol. 1961; 48: 415-422. 14. Schwann J: Milker's nodes as an epidemiological problem in the area of Szczecin (Stettin). Hautarzt. 1962; 13: 467-471. 15. Schwann J: A contribution on knuckle pads. Przegl Dermatol. 1962; 49: 531-539. 16. Schwann J, Schwann S: Circumstances of the discovery of the pathogen of favus (trichophyton schoenleini, achorion schoenleini) by Robert Remark. Ann Acad Med Stetin. 1963; 9: 161-167. 17. Schwann J: Views on the etiology of occupational skin diseases in sea-going fishermen. Med Pr. 1963; 14: 335- 346. 18. Schwann J: Analysis of skin disease morbidity in the sea fishing industry of Szczecin-Swiniouj'scie region. Biul Inst Med Morsk Gdansk. 1963; 14: 229-238. 19. Schwann J: Griseofulvin treatment in experimental infection with trichophyton quinckeanum in man. Dermatol Wochenschr. 1964; 149: 302-308. 20. Schwann J: Studies on skin reactions in dermatitis caused by worms. Hautarzt. 1965; 16: 340-344. 21. Schwann J: Trichomycosis axillaris and its occurrence. I. Mykosen. 1967; 10: 493-500. 22. Schwann J: Trichomycosis axillaris and its distribution. II. The effect of the pH value in the armpit on the development of trichomycosis axillaris. Mykosen. 1968; 11: 165-168.


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