Keratosis palmoplantaris with cystic eyelids,
hypodontia, and hypotrichosis. Eccrine tumors with ectodermal dysplasia are part of this medical condition.
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia
and Hypotrichosis; Eccrine Tumors with Ectodermal Dysplasia Syndrome.
Autosomal recessive inheritance
A comprehensive classification of the primary
palmoplantar keratodermas was suggested by Stevens et al. in 1996. The term
“palmoplantar ectodermal dysplasia” was used where more than a single
ectodermal structure was involved to emphasize the generalized nature of the
disorder. They further identified a total of 19 subtypes and the
Schopf-Schultz-Passarge syndrome was determined to be Type XXIX. Cause
unknown. Chromosomal study normal.
Clinical features characterized by a disorder of hair,
nail, teeth, and sweat glands in various combinations. The eyelid cysts are
considered expansion of the glands of Moll.
Hypotrichosis: fine, sparse head hair; sparse
eyelash and eyebrows. Hypodontia: early loss of decidual teeth; few
permanent teeth. Eyes: epidermal cysts of eyelids are characteristic. Skin
changes: plantar and palmar keratosis; nail dystrophy. Exocrine gland tumor
may occur on hands and feet. Affected individuals have normal lifespan and
There are no specific anesthesia
considerations associated with this condition. Any considerations will be
related to the surgical procedure only.
Papillon-Lefèvre Syndrome: An extremely rare
genetic disorder that typically becomes apparent during the first 5 years of
life. It is characterized by palmar-plantar hyperkeratosis in association
with periodontium. The deciduous teeth are lost by age 5 years. Without
treatment, most of the permanent teeth may also be lost by approximately age
17 years. Other clinical features include frequent pyogenic skin infections, nail
dystrophy, and hyperhidrosis. It is transmitted as an autosomal recessive
Haim Munk Syndrome: Characterized by
palmoplantar hyperkeratosis and onychogryphosis. Pes planus, arachnodactyly,
and/or acroosteolysis have been reported. Periodontosis may also be present.
It is inherited as an autosomal recessive trait. Some researchers believe
the disorder may be a variant of Papillon-Lefevre Syndrome.
Meleda Disease (Mal de Meleda): An extremely rare
disorder characterized by the slow progressive development of palmoplantar
hyperkeratosis. Affected skin may be unusually red and become abnormally
thick. Affected children may exhibit abnormalities of the nails,
hyperhidrosis with unpleasant odor, and/or lichenoid plaques. In addition,
cardiac abnormalities and cardiomegaly have been reported. It is inherited
as an autosomal recessive trait.
Sjögren Larsson Syndrome (SLS): A rare
inherited disorder characterized by ichthyosis, palmoplantar hyperkeratosis,
and ecchymosis. Affected infants may show mental retardation, spastic
paraplegia, seizures, and eye abnormalities. It is inherited as an autosomal
Fitzsimmons Syndrome: An extremely rare inherited disorder
characterized by slow progressive development of palmoplantar keratosis,
mental retardation, and spastic paraplegia. Children may show an abnormally
high pes cavus. It is thought to be inherited as an X-linked genetic
Craifen W, Levy M, Lewis R: Schopf-Schulz-Passarge syndrome with an
unusual pattern of inheritance. ...