[Type I pachyonychia congenita (Jadarssohn-Lewandowsky)].
BACKGROUND
Pachyonychia congenita is considered to be a genodermatosis of autosomal inheritance. It is characterized by nail hypertrophy, shortly present after birth. Later on follicular keratosis of the extremities and hyperkeratosis of palms and soles can be found.


METHODS
We report a child with pachyonychia congenita type-I (Jadassohn-Lewandowsky). Shortly after birth nail hypertrophy of all finger- and toenails and leukoplakia of the palate and tongue were found. At the age of 3 years follicular keratosis of the extremities and plantar bullae could be found additionally.


CONCLUSIONS
The underlying disturbance is a mutation within genes for keratin 6, 16 and 17 which leads to formation of abnormal tonofilaments. In adult patients retinoids can be used for symptomatic treatment especially of the palmoplantar keratosis.
Dermatologische Klinik, Universität Regensburg.
M B
MB
Wimmershoff
W
W
Stolz
R
R
Schiffner
M
M
Landthaler
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D007644:Darier Disease / Q000175:diagnosis / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007633:Keratins / Q000235:genetics; D007972:Leukoplakia, Oral / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000175:diagnosis / Q000235:genetics*
D007633:Keratins
Pachyonychia congenita Typ-I (Jadassohn-Lewandowsky).