Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.
Congenital generalized hypertrichosis terminalis has been described in association with other features as gingival hyperplasia, osteochondrodysplasia, and a dysmorphic face. Bondeson and Miles [1993: Am J Med Genet 47:198-212] described a woman with universal congenital hypertrichosis terminalis associated with gingival hyperplasia; the face of this patient was coarse and different from other forms of hypertrichosis described before. We present an 11-year, 6-month-old girl with universal congenital hypertrichosis terminalis, gingival hyperplasia, and a characteristic coarse face resembling the patient described by Bondeson and Miles [1993: Am J Med Genet 47:198-212]. We propose that this type of congenital generalized hypertrichosis terminalis, associated with gingival hyperplasia and a coarse face, is a distinctive new entity.
Canún
Sonia
S
División de Genética, Hospital General Dr. Manuel Gea González, México City, México. scanuns@hotmail.com
Guevara-Sanginés
E G
EG
Elvira-Morales
A
A
Sierra-Romero
Ma del C
Mdel C
Rodríguez-Asbun
H
H
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D005885:Gingival Hyperplasia / Q000473:pathology*; D006801:Humans; D006983:Hypertrichosis / Q000473:pathology*; D007223:Infant; D007621:Karyotyping