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At a glance

Focal facial dermal dysplasia with bitemporal lesions, periauricular or periorbital scar-like depressions of the skin with absent or multiple rows of eyelashes.

Synonyms

Focal Facial Dermal Dysplasia Type III; Bitemporal Forceps Marks Syndrome; FFDD Type III.

Incidence

Extremely rare, first described in eight patients from Puerto Rico. Later reported also from other countries.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Homozygous TWIST2 frameshift mutation histological analysis of the skin lesions demonstrates mesodermal dysplasia, characterized by loss of subcutaneous fat and almost complete continuity between the epidermis and underlying skeletal muscle. Areas of skin puckering are caused by hypoplasia of the corium and subcutaneous fat.

Diagnosis

Clinical features and skin biopsy.

Clinical aspects

Setleis Syndrome is characterized by an aged, leonine facial appearance, puckered skin around the eyes with periorbital fullness, and absent or multiple rows of eyelashes. Flat nasal bridge, bulbous nasal tip, and big lips. Redundant facial soft tissue. These patients also show characteristic bitemporal skin marks (original description noted similarity to obstetric “forceps marks”). An association of Setleis Syndrome has been suggested with imperforate anus, megaureter, bifid scrotum, and supernumerary nipples has been reported. Initially, these patients were reported to have normal mental development, but now several reports about learning difficulties and epilepsy in these patients exist.

Anesthetic considerations

Reports suggest that the epidermis overlying the lesions may be more susceptible to injury following trauma. Careful padding of the affected regions against pressure and trauma during anesthesia is therefore recommended.

Pharmacological implications

There are no known pharmacological implications with this condition.

Other conditions to be considered

  • Brauer Syndrome: The main finding in this autosomal dominant inherited syndrome is a wrinkling or puckering of the skin at the temples. In addition, some patients had guttate areas on the lateral aspects of their forehead and chin. It seems to be more common than Setleis Syndrome (FFDD III), existing in three large kindreds (in Australia, Germany, and England).

  • Adams-Oliver Syndrome: Very rare inherited disorder characterized by defects of the scalp associated with multiple scarred and hairless areas that usually have dilated blood vessel directly under the skin. Scalp defects are already present at birth. The extremities are either short (hypoplastic fingers and toes) or characterized by absent hands and lower legs. Congenital heart defect must be ruled out.

  • Aplasia Cutis Congenita: Most often inherited disorder with circumscribed or more extensive skin lesions, which may also involve underlying tissues. Neurological and cardiac anomalies have also been described in these patients.

  • Cutis Marmorata Telangiectatica Congenita: Congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Often reported in ...

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