Erbliche Verhornungsstörungen der Haut

Pachyonychia congenita (Jadassohn-Lewandowsky Syndrome)

“…The male to female ratio was 9:5 which is in good agree ment with the ratio of 71:41 given by Moldenauer and Ernst [10] and 100:41 by Touraine as quoted by Schnyder and Kltinker [21].…”

“…Taking into account the 3 cases published by Moldenauer and Ernst [10], 1 case published by Gardina and Guarneri [17] 3 by Torslind et al [18], 2 by Suvorova et al [19], 3 by Anneroth et al [20] and 9 cases by further authors, the total number of JLS patients reliably described in the literature would amount to 135. It is, however, difficult to assess the exact number as some cases were described under other diagnoses, for example epidermolysis bullosa simplex, as was stated by Schnyder and Klunker [21]. Except for the report on JLS in Slovenia publish ed by Kavcic and Kansky [22] in 1978, no population studies are available on the incidence of JLS.…”

Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin

“…This ease has been published by Lodin and Gentele (1957) as "Maleformatio ectodermalis generalisata; Hyperkeratosis follieularis monstruosa; Imbecilhtas; Epilepsia". Studies on the mode of inheritance and on the chromosomal pattern had been impossible (B/~fverstedt, 1964, cited by Schnyder andKlunker, 1966). Histopathologieal investigations revealed hyperplasia of the epidermis and papillomatosis, pronounced hyperkeratosis and occasional dyskeratotic degenerative cellular changes.…”

Genealogische und zytogenetische Untersuchungen bei der hidrotischen Form der erblichen ektodermalen Dysplasie

“…Die grosse Vielfältigkeit dieser Dysplasien führt dazu, dass viele einzelne Syndrome beschrieben werden. Schwierigkeiten ergeben sich dabei deshalb, weil viele der beschriebenen Syndrome einander sehr ähnlich sind [3,5,18,19].Die ektodermale Dysplasie könnte man in zwei Gruppen unterteilen: 1. Mit vorwiegend hypertrophischen Prozessen der Epidermis und ihrer Adnexe: Hyperkeratose (Keratodermie, follikuläre Hyperkeratose, LeukoEingegangen: 23.…”