PMC9837636_01
Patient's (B and C) phenotypic characteristics (A). Pear-shaped nose, diffuse hair rarefaction, more intense in the frontotemporal regions. Close up view of the pear-shaped nose (D). Joint deformities in the feet and hands (E and F).
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On physical examination, bilateral hypermobility and deformity of the interphalangeal joints, thickening of the wrists, thinning of the skull, collapse of the nasal bridge, thin upper lip, pear-shaped nose (Fig. 1), and high-arched palate were observed. Trichology showed fine short hair; and diffuse hair rarefaction, more evident in the bitemporal region (Fig. 1C). The pull and tug tests were negative.
Trichogram. (A) Trichoscopic analysis under optical microscopy showing normal hair shafts. (B) At the highest magnification, normal telogen hairs are observed. (C) Trichoscopy was normal, although it showed fine hairs corresponding to hypotrichosis.
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Analysis of the hair strands under optical microscopy was carried out and the trichogram disclosed normal hair shafts (Fig. 2A). At the highest magnification, normal telogen hairs were disclosed (Fig. 2B). Trichoscopy was normal, but showed fine hairs, corresponding to hypotrichosis (Fig. 2C).
Hand x-ray showing coned epiphyses in the middle phalanges (yellow arrows).
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The hand radiography showed a widening of the base of the middle phalanx from the second to fifth fingers, bilaterally (Fig. 3).