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At a glance

Rare form of ectodermal dysplasia with defective skin organogenesis (keratosis palmoplantaris and facial telangiectasis), multiple eyelids cysts, hypodontia, and hypotrichosis. Eccrine tumors with ectodermal dysplasia are part of this medical condition.

Synonyms

Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis; Eccrine Tumors with Ectodermal Dysplasia Syndrome.

Incidence

Rare, fewer than 100 patients described.

Genetic inheritance

Autosomal recessive inheritance.

Pathophysiology

Result of missense or nonsense mutation of WNT10A gene at 2q35, which is responsible for odontogenesis.

Diagnosis

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.

Clinical aspects

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 (fragile). Delayed bone maturation. Neurodevelopmental delay. Vascular pathology with severe abdominal atheromatous (Intestinal Ischemic Syndromes). Exocrine gland tumor may occur on hands and feet. Affected individuals have normal lifespan and function.

Anesthetic considerations

There are no specific anesthesia considerations associated with this condition. Any considerations will be related to the surgical procedure only.

Pharmacological implications

There are no known pharmacological implications related to this syndrome.

Other conditions to be considered

  • Papillon-Lefèvre Syndrome: 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 trait.

  • 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-Lefèvre Syndrome.

  • Meleda Disease (Mal de Meleda): Extremely rare disorder (prevalence around 1:100,000) 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. Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated.

  • Sjögren-Larsson Syndrome: 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 ...

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