PMC6390251_01
PMC6390251_02
Patient's face shows "bird-like facial appearance", beak-shaped nose, scarce and gray hair, and eyebrows. Note thin upper limbs with decreased subcutaneous fat and truncal obesity.
CRIG2019-8538325.001.jpg
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fig1
He had thin upper limbs with decreased subcutaneous fat and truncal obesity (Figure 1).
Lower limbs with markedly atrophied skin and subcutaneous fat, abnormal pigmentation of the skin and hyperkeratosis in the left perimalleolar area, flat feet, plantar hyperkeratosis, and callus in the right 5th metatarsal head and 5th metatarsal base areas.
CRIG2019-8538325.002.jpg
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fig2
Moreover, we found short stature, hypogenitalism, lower limbs with markedly atrophied skin and subcutaneous fat, abnormal pigmentation of the skin and hyperkeratosis, and flat feet (Figures 2 and 3).
Left foot showing contractures, nail dystrophy, dermal atrophy, circumscribed hyperkeratosis and hyperpigmentation, and decreased subcutaneous fat and muscle.
CRIG2019-8538325.003.jpg
PMC6390251_02_CRIG2019-8538325.003.jpg
fig3
Moreover, we found short stature, hypogenitalism, lower limbs with markedly atrophied skin and subcutaneous fat, abnormal pigmentation of the skin and hyperkeratosis, and flat feet (Figures 2 and 3).