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Genetic disorder with characteristic facial skin changes.

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

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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.

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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.

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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 subcutaneous fat.

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Physical appearance, family history, characteristic histologic appearance of skin lesion biopsy.

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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.

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Preoperative assessment is important to determine the presence of a cardiac condition. No other specific precautions prior to anesthesia have been reported.

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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.

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No known pharmacological implications.

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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 27:575, 1992.  [PubMed: 1401310]
Masuno M, Imaizumi K, Makita Y, et al: Autosomal dominant inheritance in Setleis syndrome. Am J Med Genet 57:57, 1995.  [PubMed: 7645599]
Tay YK, Morelli JG, Weston WL: Focal facial dermal dysplasia: report of a case with associated cardiac defects. Br J Dermatol 135:607, 1996.  [PubMed: 8915156]

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