case_images: PMC5002463_01
case_images: Basal cell carcinoma in forehead.
case_images: CRIS2016-3176842.001.jpg
case_images: PMC5002463_01_CRIS2016-3176842.001.jpg
case_images: fig1
case_images: The patient reports that he had recently been referred for surgical resection of a skin tumor with 1.5 cm in diameter located on the forehead (Figure 1).
case_images: (a) Dolichocephaly, beaked nose, and prominent ears. (b) Clinodactyly and dystrophic nails. (c) Palmar transverse crease. (d) Telangiectatic erythema and linear scar in forehead due to previous surgical excision of basal cell carcinoma.
case_images: CRIS2016-3176842.002.jpg
case_images: PMC5002463_01_CRIS2016-3176842.002.jpg
case_images: fig2
case_images: At admission, physical examination showed a short stature (142 cm), weight of 48 kg, growth retardation, dolichocephaly, triangular face, beaked nose, prominent ears (Figure 2(a)), and hypogonadism. He had a high-pitched voice, small mandible, dystrophic nails, clinodactyly (Figure 2(b)), and palmar transverse crease (Figure 2(c)). He had a telangiectatic erythema in malar region of the face and forehead that worsened after solar radiation and a linear scar in brow related to previous surgical resection of a basal cell carcinoma (Figure 2(d)).
case_images: Cafe au lait macules in the anterior abdominal skin.
case_images: CRIS2016-3176842.003.jpg
case_images: PMC5002463_01_CRIS2016-3176842.003.jpg
case_images: fig3
case_images: He also presents with several cafe au lait macules in the abdominal skin and gluteal region (Figure 3).
case_images: Polypoid-ulcerated mass in ascending colon.
case_images: CRIS2016-3176842.004.jpg
case_images: PMC5002463_01_CRIS2016-3176842.004.jpg
case_images: fig4
case_images: Upper gastrointestinal endoscopy was normal and colonoscopy revealed a polypoid-ulcerated mass located in ascending colon (Figure 4).