[…] and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation.
[genome.jp]
Lipoatrophy and joint contractures occurred progressively in life, mainly on the upper part of the body, leading to a very characteristic facial appearance.
[frontiersin.org]
[…] degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial
[genome.jp]