Puckered periorbital skin, absent or multiple rows of
Focal Facial Dermal Dysplasia Type II; Bitemporal Forceps
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
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
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 ...