case_images: PMC9117717_01
case_images: Clinical and histopathological manifestations (A) Poikiloderma with mottled pigmentation and telangiectasia on the face (B) Sparse eyebrows and eyelashes and lagophthalmos (C) Hairless on top of the head (D) Dry skin, mild eczema, and small pigmented macules with skin sclerosis (E,F) Mild lymphedema of the lower limbs (E) and contracture of the left Achilles tendon (F) (G) Mild hyperkeratosis with calluses (arrowheads) on the sole (H) Impaired extension of the fingers (I) Mild hypoplasia of the hands evaluated using X-ray photography (J) Pathological features of the non-sun-exposed area of the anterior chest. Hematoxylin and eosin (H&E) stain (scale bar, 100 mum) (K) Elastica-Masson staining. The inset shows a high-magnification image of the area indicated in the box (scale bar, 100 mum). (L) Diffuse bright appearance (white arrows) of the bilateral quadriceps muscles detected with muscle MRI (T1-weighted sequence).
case_images: fgene-13-870192-g001.jpg
case_images: PMC9117717_01_fgene-13-870192-g001.jpg
case_images: F1
case_images: Poikiloderma with mottled pigmentation and telangiectasia was remarkable on the face (Figure 1A). The eyebrows and eyelashes were almost absent, and lagophthalmos due to skin sclerosis was observed (Figure 1B). Scalp hairs were also sparse, and the top of the head had been almost hairless since childhood (Figure 1C). The trunk and extremities showed dry skin, mild eczema, small pigmented macules, and skin sclerosis (Figure 1D). His left heel could not be placed on the ground due to Achilles tendon contracture, resulting in a constant flexed position of his left knee (Figures 1E,F). Mild hypoplasia of the hands and feet, multiple calluses on the soles, and impaired extension of the fingers were noted (Figures 1G-I). Histology of the non-sun-exposed skin showed epidermal atrophy and mild dermal fibrosis (Figure 1J). Fragmented elastic fibers were clearly observed with Elastica-Masson staining (Figure 1K). Muscle magnetic resonance imaging (MRI) findings showed severe fatty infiltration in the bilateral quadriceps muscles (Figure 1L), erector spinae muscles, and muscles in the upper extremities.