PMC10151747_01
Proband 1: (A) increased palmar wrinkling, bruising, discolouration, and thinning of the skin over the forearms; (B) bruising and discolouration of shins; (C) skin over the chest is translucent with visible veins; (D) feet show pes planus with hammer toes and bilateral hallux valgus; (E) knees show mildly atrophic scars; (F) thin, discoloured skin over the dorsum of the hands; (G) increased palmar wrinkling and wasting of the thenar eminence; and (H) soles of the feet show an abnormal callus formation.
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F1
At the time of examination, age 62, (see Figure 1, patient's consent has been gained for the use of all clinical photographs), P1 had a high arched palate (however, with no abnormally shaped teeth and no bifid uvula), with a scoliosis of the spine convex to the left.
Proband 1: transmission electron microscopy (TEM) of the skin showing collagen flowers. TEM accelerating voltage at 80.2 kv and magnification x20,000; scale bar shows 200 nm.
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F2
PMC10151747_02
Proband 2: (A) bilateral hallux valgus, (B) atrophic scarring on the right knee, (C) piezogenic papules and pes planus, (D) bilateral patellar misalignment, (E) hair thinning around the frontal hairline and vertex, and (F) hypermobility in the hands.
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F3
On examination at age 34, (see Figure 3, patient's consent has been gained for the use of all clinical photographs), P2 was observed to have no skeletal abnormalities.
Proband 2: transmission electron microscopy (TEM) of the skin showing collagen flowers. TEM accelerating voltage at 80.2 kv and magnification x20,000; scale bar shows 200 nm.
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PMC10151747_02_fgene-14-1148224-g004.jpg
F4
Transmission electron microscopy of skin biopsy taken from the inner, upper arm showed clumps of collagen fibres with large collagen flowers in the papillary dermis, with normal elastic fibres (see Figure 4).