Nevoid basal cell carcinoma syndrome and fetal rhabdomyoma: a case study.

Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: clinical description and genetic analysis.

BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, inheritable, multisystem disorder characterized by numerous basal cell carcinomas (BCCs), maxillary keratocyst, and musculoskeletal malformations. Occasionally, it is associated with malignancies like rhabdomyoma, melanoma, and sinonasal undifferentiated carcinoma, to name a few. METHODS A patient presented with NBCCS with a m...

Basal cell nevus syndrome presenting as a tender mass of the jaw: A case report

Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma.

Fig. S2. Results of analysis for the PTCH1 mutation identified in the patient. DNA sequencing analysis showing the splice site mutation c.585-1G>A (denoted with arrow) in heterozygosis (A). RT-PCR analysis (B). A cDNA fragment (431 bp) was amplified with the forward primer Ex2cF:5’TAAAAGCAGCGAACCTCGAG-3’ and the reverse Ex6cR:5’-AAGTTTGTCCACCGCAAAGGA-3’ encompassing part of exon 2 (49 bp), exon...

Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report

Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple odontogenic keratocysts. Considering the rarity of this syndrome, we present a 12-year-old boy affected by this syndrome. He had multiple okcs, calcification of falx cerebri, bifid ribs, frontal bossing a...

Bazex-Dupre-Christol syndrome: A case report

Bazex-Dupre-Christol (BDC) syndrome is clinically characterizedby multiple basal cell carcinomas of the face that mainly occurduring the second and third decade of life, follicular atrophodermapredominantly of the dorsum sides of the hands and feetand generalized hypotrichosis; sometimes with pili torti andtrichorrhexis nodosa. Features commonly associated with BDCare milia, hypohidrosis and ca...