Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.
We present three unrelated children with distinctive congenital facial skin lesions. All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The lesions were located along an arc from the top of the ear to the corner of the mouth. Patient 1 was born with a unilateral cleft lip and palate, and a cutaneous hemangioma in the right palm. She is developing normally. Patient 2 has neurological sequelae after suffering an unexplained large left-sided intracerebral hemorrhage perinatally. Patient 3 has a small chin, somewhat cupped ears and a nevus on the left foot. He is developing normally. This condition has been described in the dermatological literature as focal facial dermal hypoplasia with preauricular localization. No cases with associated anomalies have been published previously. Most cases have been sporadic but familial occurrence compatible with autosomal dominant and autosomal recessive inheritance has been documented. If an embryonic fusion defect of the mandibular and maxillary prominences underlies the anomaly, the cleft lip and palate seen in one of our patients may be non-coincidental. No mutations in the TWIST2 gene were found in DNA extracted from peripheral leukocytes in the two children who were investigated.
Prescott
Trine
T
Department of Medical Genetics, Rikshospitalet, Forskningsveien 2B, 0407 Oslo, Norway.
Devriendt
Koen
K
Hamel
Ben
B
Pasch
Marcel C
MC
Peeters
Hilde
H
Vander Poorten
Vincent
V
Tallerås
Ola
O
D004252:DNA Mutational Analysis; D005260:Female; D007839:Functional Laterality / Q000502:physiology*; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012097:Repressor Proteins / Q000235:genetics; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D051879:Twist-Related Protein 1 / Q000235:genetics
D012097:Repressor Proteins; C486274:TWIST2 protein, human; D051879:Twist-Related Protein 1