Figure 1.

Clinical, Imaging, and Pathological Data of Affected Individuals with FAM111B Mutations

(A and B) Facial skin lesions of poikiloderma with hypopigmentation, telangiectasiae, epidermal atrophy, and alopecia of the scalp, eyebrows, and eyelashes in individual F1-II2 at the age of 12 months (A) and improvement of the lesions at 7 years (B).

(C and D) Eczema-like dermatosis of the hands (C) and the feet (D) in individual F1-II2 were associated with chronic lymphoedema.

(E and F) Facial lesions in individuals F2-II4 (E) and F4-II1 (F).

(G and H) Muscle MRI (T1-weighted sequence) shows a diffuse bright appearance of the anterior compartment of the thighs, particularly in the vastus lateralis muscles in individual F1-II2 at 7 years (G) and at a more severe stage with a relative sparing of the posterior compartment in the 30-year-old F2-II4 (H).

(I–N) Muscle and skin microscopy. (I) Fatty tissue and fragmented muscle fascicles; heterogeneous dystrophic pattern (individual F1-II2; Hematoxylin and eosin staining [H&E]; ×20 magnification). (J) Nonspecific myopathic changes with variation in fiber size, internal nuclei, and splitting (individual F2-II4; Gomori trichrome; ×150 magnification). (K) Age-matched normal muscle fascicles (H&E; ×150 magnification). (L) N-CAM-positive myocytes in dystrophic fascicles (individual F4-II1; immunolabeling with a DAB system (Dako); ×100 magnification). (M) Elastic dystrophy (arrowheads) with conspicuous superficial dermal changes on skin biopsy (individual F1-II2; Weigert staining; ×150 magnification). (N) Age-matched normal skin biopsy (Weigert staining; ×150 magnification).