EPONYMS IN THE DERMATOLOGY LITERATURE LINKED TO PALMO-PLANTAR KERATODERMA

Palmoplantar keratodermas (PPKs) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin on the palms and soles [1]. The three major patterns of involvement are diffuse, focal and punctate. There are clinical distinguishing features for each disease in this group, for example, transmigration to areas beyond the palmoplantar skin. Also the extent of associated systemic symptoms if present help in characterization of each type. Although a number of classifications of keratodermashave been published, none unite satisfactorily clinical presentation, pathology and molecular pathogenesis. We based our concise review of selected eponyms linked to PPK (Tabl. I) [2-36], on the classifications published in the current editions of two major textbooks in dermatology; Rook’s Textbook of Dermatology and Dermatology by Jean L Bolognia. EPONYMS IN THE DERMATOLOGY LITERATURE LINKED TO PALMO-PLANTAR KERATODERMA


Remarks
Cantu syndrome [7,8] 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.
Carvajal syndrome [9] Striate EPPK with woolly hair and dilated left ventricular cardiomyopathy. Carvajal-Huerta (1998) described 18 patients with a confirmation of epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy, examined clinically and histologically in Ecuador between 1970 and 1997. CS might be a variant of Naxos disease (ND), which was first described by Protonotarios et al., in families originating from the Greek island of Naxos. ND is a rare autosomal recessive inherited association of right ventricular dysplasia/dilated cardiomyopathy with woolly hair and palmoplantar keratoderma. Any patient with a PPK and woolly hair (or alopecia) should be sent for a cardiac evaluation.

Remarks
Gamborg-Nielsen (Norrbotten) type [15] A type of Diffuse ppk with no association. It is an autosomal recessive transgredient mutilating keratoderma. with knuckle pads identified by Gamborg-Nielsen in 1985. Patients with the transgredient PPK were also reported in Japan by Nakajima.
Haxthausen's disease [21] This is another name for Keratoderma climactericum. The specificity of this syndrome described in women over the age of 45 is uncertain, as many patients are obese. Pressure areas of the heel and the forefoot are involved first. Erythema and heavy hyperkeratosis with fissuring make walking painful. It was described in 1934.
Howel-Evans Syndrome [22] Focal non-epidermolytic PPK with carcinoma of the esophagus. It was described in 1958.

Eponyms in the dermatology literature linked to Palmo-Plantar
Keratoderma (PPK)

Remarks
Netherton syndrome (NS) [9] NS is characterized by the triad of trichorrhexis invaginata, ichthyosis linearis circumflexa, and an atopic diathesis. It is named after E.W. Netherton, Who described a 4-year old girl with scaly red and different hair, which he called bamboo hair, because of how it looked in the microscope. Nine years earlier, the Italian dermatologist Come described a condition in a young woman with a ring shape change in her skin, which he called itcthyosis Linearis circumflex. These two descriptions were considered to be related.

Papillon-Lefèvre Syndrome [1]
An autosomal recessive disorder, first described it in 1924.It is characterized by diffuse, transgredient PPK in association with destructive periodontitis (beginning in childhood) and premature loss of teeth. It is named for Papillon and Paul Lefèvre. Both are French dermatologists.
Refsum syndrome [26] 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.
Richner-Hanhart Syndrome [27] 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.
Sjögren-Larsson syndrome [29] 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 . 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.

Eponyms in the dermatology literature linked to Palmo-Plantar
Keratoderma (PPK)

Remarks
Sybert type PPK [30][31][32] 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.
Vohwinkel syndrome [35] Vohwinkel first described this autosomal dominant disorder in 1929. Honeycombed, diffuse hyperkeratosis of the palms and soles appears in infancy and then becomes transgredient. This is followed by the development of constricting bands of the digits during early childhood, which may lead to digital autoamputation, i.e. pseudoainhum. Peculiar starfish-shaped keratoses appear over the knuckles of the fingers and toes and are said to be characteristic of the disorder. Hearing loss of at least a moderate degree is seen in many patients. Additional reported findings are alopecia and ichthyosis