PMC9500337_01
Pedigree chart of the NS-affected family and cutaneous manifestations of the proband. (A) Proband is marked with an arrow. Females were indicated by circles, while males were indicated by squares. The blackened symbol represented a diseased member. (B-D) Diffuse erythema covered with greyish white scales on the chest, abdomen, and both thighs and scattered multiple blisters in the chest.
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PMC9500337_01_fgene-13-943264-g001.jpg
F1
Dermatological examination showed diffuse erythema with desquamation, and multiple flaccid vesicles over his whole body (Figure 1).
Findings of histopathological and hair scanning electron microscopy (SEM). (A,B) (HEx100) Marked hyperkeratosis, parakeratosis, hypergranulosis, and acanthosis, as well as dermal perivascular lymphocytic infiltrates. The blue box (a) indicates hypergranulosis, and the blue box (b) indicates hyperkeratosis. (C-E) (Magx38); (F-H) (Magx400) No characteristic bamboo hair was found under SEM. Some hair cuticles were damaged, deformed, and exfoliated in the two-thirds of the lower part of the hair shaft, while the hair cuticles were normal on the upper one-third of the hair shaft.
fgene-13-943264-g002.jpg
PMC9500337_01_fgene-13-943264-g002.jpg
F2
The histopathology of a biopsy revealed remarkable hyperkeratosis, parakeratosis, hypergranulosis, and acanthosis, as well as dermal perivascular lymphocytic infiltrates (Figure 2). Some hair cuticles were damaged, deformed, and exfoliated on two-thirds of the lower part of the hair shaft, while the hair cuticles were normal on the upper one-third of the hair shaft (Figure 2).