Setleis Syndrome

Puckered periorbital skin, absent or multiple rows of eyelashes.

Focal Facial Dermal Dysplasia Type II; Bitemporal Forceps Marks Syndrome.

First described in eight patients from Puerto Rico. Later reported also from other countries.

Probably in an autosomal dominant fashion with variable expressivity and reduced penetrance.

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.

Clinical features and skin biopsy.

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 in these patients exist.

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.

There are no known pharmacological implications with this condition.

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 II), existing in three large kindreds (in Australia, Germany, and England).

Adams-Oliver Syndrome (AOS): A 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: A most often inherited disorder with circumscribed or more extensive skin lesions, that 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 association with a variety of other congenital anomalies.

Delleman Oorthuys Syndrome: A multiple congenital anomaly syndrome mainly affecting the central nervous system, eyes, and skin.

Johanson-Blizzard Syndrome (JBS): Polymalformative syndrome characterized by nasal alar hypoplasia (beak shaped), scalp defects, hypothyroidism, pancreatic achylia, and congenital deafness.

Goltz Syndrome: A complex meso-ectodermal hereditary disorder characterized by focal dermal atrophy with herniation of fat producing multiple papillomas, in association with a skeletal, dental, ocular, and other anomalies.