[Familial circumscribed plantar keratosis with sensorineural hearing loss and sporadic CHILD syndrome].
The authors report a case of siblings in whom circumscribed plantar keratoderma developed during early childhood. The keratotic areas increased with age and also affected the dorsal aspects of the digital joints. In addition, a markedly progressive disturbance in sound perception occurred in both children from age 4 onwards. This observation confirms the concept proposed by Blanchet-Bardon et al. that focal palmoplantar keratoderma with sensorineural hearing loss constitutes a distinct entity. In addition, the younger sister was affected with the CHILD syndrome. She suffered from linear ichthyosiform nevus with ipsilateral ectrodactyly. The simultaneous occurrence of the two syndromes is probably purely coincidental.
Gloor
M
M
Hautklinik am Klinikum der Stadt Karlsruhe.
Gross
M
M
Happle
R
R
Gehring
W
W
D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013577:Syndrome
Familiäre zirkumskripte Plantarkeratose mit Schallempfindungsschwerhörigkeit und sporadisches CHILD-Syndrom.