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At a glance

A genetic disorder with characteristic facial skin changes.

Synonyms

Focal Facial Dermal Dysplasia (FFDD) Type 1; Bitemporal Aplasia Cutis Congenita; Hereditary Symmetrical Aplastic Nevi of Temples.

Incidence

Unknown. To date, over 80 cases have been described. The original paper from 1929 by the German physician August Brauer described 38 members in five generations of a family with a total of 155 affected members. Since then, only a few papers have been published reporting kindreds of variable size with the condition. The disorder is predominantly expressed in males.

Genetic inheritance

Autosomal dominant inheritance, with variable expressivity. All of the three large reported kindreds demonstrated father-to-son transmission. Some investigators have suggested that Brauer (FFDD1) and Setleis Syndrome (FFDD3) may be a single disorder with autosomal dominant inheritance with variable expressivity and reduced penetrance. A few sporadic cases have also been described. The genetic defect of the disorder has not been determined, yet.

Pathophysiology

Histologic analysis of the areas of skin puckering demonstrates a mesodermal dysplasia characterized by atrophy of the epidermis, replacement of the dermis with loose connective tissue, loss of subcutaneous fat, elastic fibers, and adnexal structures, resulting in almost complete continuity between the epidermis and underlying skeletal muscle.

Diagnosis

Based on the characteristic clinical appearance and histology of skin lesions and family history.

Clinical aspects

Manifestations of the condition are generally limited to the skin. These skin defects are located in the areas of embryogenetic facial fusion. The junction of the frontonasal and the maxillary facial prominences determines the temporal lesions and the border of the maxillary and mandibular prominences defines the site of the preauricular lesions. Wrinkling or puckering with abnormal pigmentation of the skin at the temple region (the original description noted similarity to obstetric “forceps marks”) is typical. Occasionally, guttate lesions cover the middle forehead and chin and multiple, vertical linear depressions on the lower forehead slanting toward the base of the nose may be present. Usually, the defects are 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 similar cases have been described. In one Australian kindred, the disease was associated with intestinal polyposis and cancer.

Precautions before anesthesia

Routine preoperative assessment. Evaluate cardiac function and consider an echocardiogram in case of murmurs and/or signs of cardiac dysfunction.

Anesthetic considerations

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 ...

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