Early-onset acral basal cell carcinomas in Gorlin syndrome.
Two patients are reported in whom early-onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow-up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype-genotype correlation of this manifestation of GS was not possible.
Department of Dermatology, Hospital Niño Jesus, Menendez Pelayo 65, Madrid, 28034, Spain.
A
A
Torrelo
A
A
Vicente
L
L
Navarro
M
M
Planaguma
E
E
Bueno
R
R
González-Sarmiento
A
A
Hernández-Martín
L
L
Noguera-Morel
L
L
Requena
I
I
Colmenero
A
A
Parareda
M A
MA
González-Enseñat
R
R
Happle
D017668:Age of Onset; D001478:Basal Cell Nevus Syndrome / Q000235:genetics / Q000473:pathology*; D002280:Basal Cell Carcinoma / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D006225:Hand; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D014034:Toes
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface