Under the caption "Congenital Dyskeratosis," Erich Schäfer1 described a syndrome based on observations gathered from one case of his own and from thirteen others reported in the literature. The condition is characterized by: pachyonychia; acneform, follicular keratosis, especially about the knees and elbows; symmetrical and circumscribed plantar and palmar keratosis; hyperhidrosis of the palms and soles; leukoplakia of the oral mucosa, and anomalies of the hair. All the fourteen cases showed pachyonychial changes as a constant finding, while the remaining clinical features were variants.
In Schäfer's case a boy, 12 years old, had had the characteristic ungual manifestations from birth. Brettauer's report2 dealt with a boy 9 years old. The finger-nails were thickened, opaque, lusterless, partially loosened and in places swollen and lap-rolled in the longitudinal axis of the finger. According to Heller,1e Jadassohn and Lewandowsky's case3 of pachyonychia congenita belongs in this group. Siemens4 likewise
DIASIO FA. PACHYONYCHIA CONGENITA JADASSOHN: A VARIETY OF ICHTHYOSIS (PACHYONYCHIA ICHTHYOSIFORMIS) INVOLVING CHIEFLY THE NAILS. Arch Derm Syphilol. 1934;30(2):218–226. doi:https://doi.org/10.1001/archderm.1934.01460140044007
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: