Rare syndrome characterized by the development of
palmoplantar hyperkeratosis, pyogenic skin lesions, onychogryposis, and
degeneration of the periodontosis.
Keratosis Palmoplantaris with Periodontopathia and
Onychogryposis; Cochin Jewish Disorder.
Genetic disorder first described by S. Haim and J. Munk in
Rare syndrome; only reported in a small community of
Jews from Cochin, India.
Caused by mutations in the gene encoding cathepsin
C (CTSC). Gene mapped on 11q14.1-q14. Allelic with Papillon-Lefèvre
Evocated in patients combining hyperkeratosis, skin
lesions, onychogryposis, and periodontodysplasia, particularly if patients
come from the Cochin area.
Features involve skin (congenital keratosis
palmoplantaris, onychogryposis), teeth (periodontosis, anodontia, oligodontia),
and skeleton (pes planus, arachnodactyly, acroosteolysis). Frequent skin infections.
Evaluate skeletal involvement
(history, clinical, radiographs), teeth lesions (clinical, radiographs), and
skin lesions. The investigation must include electrolytes and calcium
Care with tracheal intubation because of
possibility of teeth lesions. Strict asepsis is needed because of skin
Prophylactic antibiotics may be
adapted to infectious status.
Papillon-Lefèvre Syndrome: Characterized by the presence of
palmar-plantar hyperkeratosis, periodontium, and periodontoclasia.
Additional clinical features may include pyogenic skin infections, nail
dystrophy, and hyperhidrosis. It is inherited as an autosomal recessive
trait. There is some evidence that Papillon-Lefevre syndrome may result
from certain mutations of the same gene responsible for Cochin-Jewish
Schopf-Schulz-Passarge Syndrome: Characterized by the presence of
palmar-plantar hyperkeratosis, fragile nails, hypodontia, hypotrichosis, and
development of cysts on the eyelids. It is thought to be inherited as an
autosomal dominant trait.
Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome): Characterized by palmar-plantar hyperkeratosis and onychogryposis. Other
clinical features include neonatal dentition, hypotrichosis, hyperhidrosis
of the hands and feet, hoarseness, and potential for respiratory distress.
Mental retardation may be present. It is thought to be inherited as an
autosomal dominant trait.
Mal de Meleda: Characterized by palmar-plantar hyperkeratosis with
unusually red skin that becomes abnormally thick. Affected children may
present with abnormal nails, hyperhidrosis associated with an unpleasant odor
(bromhidrosis), and lichenoid plaques. It is thought to be inherited as an
autosomal recessive trait.
Haim S, Munk J: Keratosis palmo-plantaris congenita, with periodontosis,
arachnodactyly and peculiar deformity of the terminal phalanges. Br J Dermatol
Hart TC, Hart PS, Michalec MD, et al: Haim-Munk syndrome and
Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet