Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature

Figure 1 Photographs of the patient and his mother. A-C: The patient had severe obesity at 4 mo old (A) and a round face, short neck, flat nose at 5 years and 1 mo old (B and C); D: His mother is short and obese with a round face.

Figure 2 Hard subcutaneous nodule. A: The patient had hard papules and subcutaneous nodules on the hand; B: Hematoxylin and eosin-stained biopsy taken from one hard subcutaneous nodule in the right thigh showed bone formation in subcutis (×200). Bone tissue was seen in subcutaneous tissue and bone cells (orange arrow) were surrounded by osteoblasts (black arrow).