2013.1-31.Switzerland

Bloch-Sulzberger syndrome

(BSS) [1-3]

BSS is another name for Incontinentia pigmenti (IP). IP is an x-linked dominant condition that affects skin, teeth, eyes and may also have neurological problems. IP is more commonly used term than BBS.

Garrod reported the first probable case of incontinentia pigmenti in 1906 and described it as a peculiar pigmentation of the skin in an infant with mental deficiency and tetraplegia. Subsequently, Bloch and Sulzberger further defined the condition in 1926 and 1928, respectively, as a clinical syndrome. Bruno Bloch (1878-1933), (Fig. 1) is a Swiss dermatologist. His name is also linked to „Bloch’s reaction’’ or more commonly named „Dopa stain’’, which is, a dark staining observed in fresh tissue sections to which a solution of dopa has been applied, presumably due to the presence of dopa oxidase in the protoplasm of certain cells.

Marion Baldur Sulzberger (1895-1983), was one of the most famous American dermatologists. He had received his training in dermatology in Zurich (Switzerland) from 1926 to 1929.

It is one of the rare hereditary diseases characterized by genetic defects of DNA repair mechanisms, which share many clinical features such as growth retard ation, neurological disorders, premature ageing, skin alterations including abnormal pigmentation, telangiectasia, xerosis cutis, pathological wound healing as well as an increased risk of developing different types of cancer.

It is named for, Guido Fanconi (1892-1979), (Fig. 2); a Swiss paediatrician.

His name is also linked to Fanconi syndrome (osteomalacia, aminoaciduria, hyperphosphaturia, glycosuria and aciduria).

Franceschetti-Klein syndrome

[5]

Franceschetti-Klein syndrome is another name for what is currently widely known as Treacher Collins syndrome. It is a rare disorder of craniofacial Development. The term mandibulofacial dysostosis is used to describe the clinical features.

It is named after Edward Treacher Collins (1862-1932), the English surgeon and ophthalmologist who described its essential traits in 1900. In 1949 Franceschetti and Klein described the same condition on their own observations as mandibulofacial

dysostosis.

Adolphe Franceschetti (1896-1968), (Fig. 3), was a Swiss ophthalmologist.

David Klein (1908-1993), was a Swiss human geneticist and ophthalmologist. There is confusion as to the correct eponymic term for This condition. Treacher Collins syndrome is the termcommonly used in Britain and USA, while Franceschetti-Klein syndrome is used in continental Europe. George Andreas Berry in 1889 first described an Abortive form with colobomata of the lower eyelids. In1900, Treacher Collins presented two similar patients. Franceschetti and Zwahlen in 1944 and Franceschetti and Klein in 1949 published extensive reviews of the condition in which they expanded the phenotype, employing the designation „mandibulofacial dysostosis”.

Adolphe Franceschetti created a department of human genetics at his clinic. This was headed by David Klein and became the origin of the first institute of human genetics in Switzerland. Franceschetti published more than 500 articles, and his name is attached to some 10 syndromes.

David Klein was a leading figure in the organization of the British Ophthalmological Society as well as in theInternational council of ophthalmology and was elected president in 1927.

Horner syndrome [6]

This syndrome is characterized by drooping of the eyelid (ptosis) and constriction of the pupil (miosis), sometimes accompanied by decreased sweating of the face on the same side. It occurs due to a defect in the sympathetic nervous system. It is named after Johann Friedrich Horner (1831-1886), (Fig. 4), a Swiss doctor who laterBecame an ophthalmologist. He was the founder of modern scientific Swiss ophthalmology.

Jadassohn-Tieche nevus [7,8]

This term was once used for a blue nevus. It is named after Max Tièche (1878-1938), (Fig. 5), a Swiss physician and Joseph Jadassohn (1863-1936), a German dermatologist.

LMS was an old name for Elastosis perforans serpiginosa (EPS). It is no longer used.

LMS is named for Wilhelm Lutz and Alfred Guido Miescher.

Wilhelm Lutz (1888-1958), (Fig. 6), was a Swiss dermatologist. Alfred Guido Miescher (1887-1961), (Fig. 7), was an Italian-born Swiss dermatologist.

The first recognizable description of EPS was provided by Fischer in 1927 but was offered as an example of Kyrle disease. Jones and Smith also described elastosis perforans serpiginosa in 1947 but mistook it for porokeratosis of Mibelli. In 1953, Lutz recognized the features of EPS as those of an unknown disease and termed the condition keratosis follicularis serpiginosa. Miescher believed the condition was unique and termed it elastoma intrapapillare perforans verruciform.

Miescher’s cheilitis [12]

Miescher’s cheilitis is another less commonly used name for Granulomatous cheilitis.

Miescher’s cheilitis is named for Alfred Guido Miescher.

Granulomatous cheilitis or cheilitis granulomatosa is a monosymptomatic form of the Melkersson–Rosenthal syndrome (MRS). MRS is characterized by a triad of symptoms, typically with an onset in childhood or youth. It comprises recurrent facial paralysis (in 30% of cases), chronic edema of face and lips and fissured tongue (lingua plicata). MRS was described by Melkersson in 1928 and, Rosenthal in 1931 emphasized that lingua plicata (fissured tongue) is commonly related. However, there are several earlier descriptions of the condition-by Paul Hübschmann (1894), Lothar von Frankl-Hochwart (1891) and Grigorii Ivanovich Rossolimo (1901). Ernst Gustaf Melkersson (1898-1932) was born and educated in Sweden. Later, he worked at the medical department of the Gothenburg Sahlgrenska sjukhuset.

Curt Rosenthal (1892-1937), was born in Germany and worked at the University of Breslau psychiatry and neurology clinic. The designation Melkersson’s syndrome was suggested to honor Melkersson, who had died so young, but the term Melkersson–Rosenthal syndrome has now been generally accepted.

It is a rare symptom complex out of the spectrum of ectodermal dysplasia. The main clinical findings are absence of dermatoglyphs, reticularor mottled hyperpigmentation, hypohidrosis and nail dystrophy.

NFJS is named after Oskar Naegeli, Adolphe Franceschetti and Josef Jadassohn.

Oskar Naegeli (1885-1959), (Fig. 8), was a Swiss dermatologist.

Adolphe Franceschetti (1896-1968), was a Swiss ophthalmologist.

Josef Jadassohn (1863-1936), was a German dermatologist.

Richner-Hanhart syndrome [14]

It is a rare autosomal recessive disease characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. This syndrome is reported first by, Dr. Hermann Richner, Swiss dermatologist, born September 6, 1908, in Zürich. Ernst Hanhart (1891-1973), (Fig. 9), was Swiss internist and human geneticist.

Secretan’s syndrome [15]

It is an edema of the limbs due to factitious factors like self-inflicted trauma with a hard object. In 1916, Henri-Francois Secretin (1856-1916), (Fig. 10), a Swiss physician, reported this condition.

The du Bois sign [16]

The du Bois sign is a common but generally very unclearly defined term. It was possible to show that the origin of the term is based on the observations made by the Swiss dermatologist Charles du Bois in connection with congenital syphilis in 1926. The du Bois sign was defined as a shift in the volar skin crease of the distal joint of the fifth finger in the proximal direction as compared with the intermediate joint of the ring finger by Rene´ Hissard in 1932. Charles du Bois (1874–1947), was the Director of the Dermatological Syphiligraphic Clinic of the Medical Faculty in Geneva. This sign is sometimes wrongly attributed to Paul Dubois (1795–1871), a French gynecologist. The du Bois sign is a description of a brachydactylic condition of the fifth finger. This characteristic should not be seen as being of particular clinical significance on its own. If at all, the du Bois sign may be of limited use for diagnosing congenital syphilis, but only in combination with other symptoms or by way of supplementary evidence. Some authors suggested that this term to be replaced with brachymesophalangia 5 (BMP 5).

It is characterized by uveitis, poliosis, vitiligo, and meningitis.

Named for Alfred Vogt, Yoshizo Koyanagi, and Einosuke Harada.

Yoshizo Koyanagi (1880–1954), was a Japanese ophthalmologist. In recognition of Koyanagi’s outstanding contribution and publications, the government conferred on him the posthumous Decoration of the Second Order of the Sacred Treasure.

Einosuke Harada (1892–1946), was a Japanese ophthalmologist. Harada started to practice in the city of Nagasaki in 1930, where his hospital was destroyed by the atomic bomb on August 9, 1945; although he survived the bomb, Harada died before he could restart his practice.

Alfred Vogt (1879-1943), (Fig. 11), was one of three ophthalmologists from the German-speaking part of Switzerland who had an exceptional impact on ophthalmology during the 20th century; the other two were Hans Goldmann (1899-1991) and Franz Fankhauser (1924- ). Vogt is known for his natural gift of observation, his extraordinary memory for facts, and an enormous working capacity.