Genetic disorder with characteristic facial skin changes.
Focal Facial Dermal Dysplasia (FFDD) type I; Bitemporal
Aplasia Cutis Congenita; Hereditary Symmetrical Aplastic Nevi of Temples.
Undetermined. Since the original description in 1929 by
August Brauer, a German physician, only a few papers have been published reporting kindreds of
variable size (one family has more than 155 affected members) with the condition.
The disorder is pre-dominantely expressed in males.
One sporadic case has
been reported in a Mexican-American male infant.
Autosomal dominant inheritance, with possible variable
expressivity. All of the three large reported kindreds demonstrated
father-to-son transmission. Some investigators have suggested that Brauer and
Setleis (FFDD type II) syndrome may be a single disorder with autosomal
dominant inheritance with variable expressivity and reduced penetrance.
Histologic analysis of the lesions demonstrates a
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
Physical appearance, family history, characteristic
histologic appearance of skin lesion biopsy.
Manifestations of the condition are generally limited to
the skin. Wrinkling or puckering of the skin at the temple region (original
description noted similarity to obstetric “forceps marks”). Occasionally,
guttate areas cover middle forehead and chin. Usually, the affection is
bilateral, and only two of the original 38 patients described by Brauer had
a unilateral occurrence. One case report of a 2-month-old child suggested a
possible association between the syndrome and tetralogy of Fallot, although
no other related cardiac anomalies have been described. Brauer and Setleis
(focal facial dermal dysplasia type II) syndromes have been suggested by some authors to be
the same condition.
Preoperative assessment is important
to determine the presence of a cardiac condition. No other specific
precautions prior to anesthesia have been reported.
No specific complications during
anesthesia have been reported. However, some reports suggest the epidermis
overlying the lesions may be more susceptible to injury following trauma.
Extra care with padding of the affected region for protection from pressure
and trauma during anesthesia may be necessary.
No known pharmacological
Setleis Syndrome: Most likely autosomal dominant transmitted
disorder with variable expressivity and reduced penetrance. Characterized by
skin changes limited to the head, resulting in an aged leonine appearance.
Kowalski DC, Fenske NA: The focal facial dermal dysplasia: Report of a
kindred and a proposed new classification. J Am Acad Dermatol
Masuno M, Imaizumi K, Makita Y, et al: Autosomal dominant inheritance in
Setleis syndrome. Am J Med Genet
Tay YK, Morelli JG, Weston WL: Focal facial dermal dysplasia: report of a case with associated
cardiac defects. Br J Dermatol