2013.4-31.EponymsPPK

Also known Loricrin keratoderma, Mutilating keratoderma with ichthyosis, and Variant
Vohwinkel’s syndrome. It is atype of Transgredient keratodermas. Named for Dr. Camisa (Fig. 4), who is is currently the Director of the Phototherapy Department at Riverchase Dermatology and an Affiliate Associate Professor of Dermatology at the University of South Florida in Tampa.

Figure 4. Charles Camisa, M.D., FAAD.

Hyperkeratosis–hyperpigmentation syndrome first reported in 1978. The same name is a pplied to a syndrome characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects, first reported in 1982. Both are named for José María Cantú Garza (1938-2007), (Fig. 5), who was a Mexican genetic researcher.

Figure 5. José María Cantú Garza (1938-2007).

This is a rare type of Ichthyoses with associated keratoderma. There are horny or velvety spikes rather thanthickened scales. Named for Helene Ollendorff Curth (1899-1982), (Fig. 6) and Madge Thurlow Macklin (1893–1962), an American medical geneticist.The described the condition in 1954.

Figure 6. Helene Ollendorff Curth (1899-1982).

Type 1 PC. Type 2 is known as Jackson–Lawler type. Josef Jadassohn (1863-1936), (Fig. 7) and his assistant, Felix Lewandowsky (1879-1921), (Fig. 8), were eminent German dermatologists.

Figure 7. Josef Jadassohn (1863-1936).

Figure 8. Felix Lewandowsky (1879–1927). Reproduced with the kind permission of the Alumni Association of the Medical Faculty of the University of Basel, Switzerland.

It is a rare symptom complex out of the spectrum of ectodermal dysplasia. The main clinical findings are absence of dermatoglyphs, reticular or mottled hyperpigmentation, hypohidrosis and nail dystrophy. NFJS is named after Oskar Naegeli, Adolphe Franceschetti and Josef Jadassohn. Oskar Naegeli (1885-1959), (Fig. 9), was a Swiss dermatologist. Adolphe Franceschetti (1896-1968), (Fig. 10), was a Swiss ophthalmologist. Josef Jadassohn (1863-1936), (Fig. 7), was a German dermatologist.

Figure 9. Oskar Naegeli (1885- 1959). A courtesy of Archives of the Institute for the History of Medicine, University of Zurich, Switzerland.

Figure 10. Adolphe Franceschetti (1896-1968). A courtesy of Library, university of Basel, Switzerland.

It is a PPK with periodontitis, arachnodactyly and acro-osteolysis. In 1965, Dr. Salim Haim (1919-1983), (Fig. 11), dermatologist and Dr. Munk, a radiologist, from Haifa reported this rsyndrome, which is characterized by palmoplantar keratosis, pes planus, onychogryphosis periodontitis, arachnodactyly, and acroosteolysis.

Figure 11. Salim Haim (1919-1983).

Palmoplantar keratoderma with scleroatrophy. Named for French dermatologist, Claude Huriez (1907-1984), (Fig. 12). In 1960s, Huriez and his colleagues reported 2 families from northern France with, this syndrome, which is characterized by scleroatrophy of the hands and feet, nail hypoplasia, mild palmoplantar keratoderma and hypohidrosis.

Figure 12. Claude Huriez (1907- 1984); with kind permission from; Museum Association Regional Hospital of Lille – France.

It is an example of occurance of PPK in the disorders of Ichthyoses. Refsum disease is an
autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. Sigvald Bernhard Refsum (1907-1991), (Fig. 13), was an outstanding Norwegian neurologist.

Figure 13. Sigvald Bernhard Refsum (1907-1991). This figure is reproduced with permission from the great Norwegian encyclopedia (Store norske leksikon), Available Online at; http://snl.no/Sigvald_Bernhard_ Refsum

It is a type of focal Palmoplantar Keratoderma with Associated Features. It is a rare autosomal recessive disease characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Many of the reported families are of Italian origin.This syndrome is reported first by, Dr. Hermann Richner, Swiss dermatologist, born September 6, 1908, in Zürich. Ernst Hanhart (1891-1973), (Fig. 14), was Swiss internist and human geneticist.

Figure 14. Ernst Hanhart (1891- 1973). A courtesy of Archives of the Institute for the History of Medicine, University of Zurich, Switzerland.

It is an example of occurance of PPK in the disorders of Ichthyoses. It is a rare autosomal
recessive condition comprising congenital ichthyotic hyperkeratosis, spastic diplegia, mild to moderate mental retardation, and retinopathy.It is named for Karl Gustaf Torsten Sjögren (1896- 1974) and Tage Konrad Leopold Larsson (1905-1998). Sjögren (Fig. 15), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry. Tage K.L. Larsson, was a lecturer of statistics at the University of Lund.

Figure 15. Karl Gustaf Torsten Sjögren (1896- 1974). Image is provided by the Center for History of Science, the Royal Swedish Academy of Sciences. Permission For republication is granted by Norstedts, Sweden.

It is a type of diffuse ppk with no other association. It is a severe transgredient keratoderma reported by Sybert et al. (Virginia Sybert, (Fig. 16), is a contemporary American dermatologist and medical geneticist) resembled mal de Meleda but had dominant inheritance. Onset was earlier than in Greither’s syndrome. Glove and stocking hyperkeratosis, including autoamputation of toes, extended also to the elbow knees, posterior aspects of the forearms, shins, groins and natal cleft. Mal de Meleda is a rare autosomal recessive transgredient keratoderma named after the Croatian island of Meleda (Mljet) where it was first identified. Nagashima-type” keratosis is a nonprogressive, autosomal-recessive palmoplantar keratoderma that resembles a mild form of mal de Meleda. Lind et al, described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia.

Figure 16. Virginia Sybert.

Also known as, Thost–Unna keratoderma. It is a type of diffuse Palmoplantar Keratoderma. In 1880, Thost described a family with diffuse non-transgrediens PPK. This was followed by Unna’s description of a clinically identical, autosomal dominant PPK in two families. Paul Gerson Unna (1850- 1929), (Fig. 17), was a German dermatologist. Herrmann Arthur Thost (1854-1937), (Fig. 18), was a German physician.

Figure 17. Paul Gerson Unna (1850- 1929).

Figure 18. Herrmann Arthur Thost (1854-1937).