PMC9374324_01
Clinical pictures (A-E). Upon admission, a large number of black crusts were seen on the head and face of the patient, with a large number of yellow greasy crusts attached to the scalp, dense erythema, and isolated follicular papules on the neck and back.
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F1
Erythema, papules, and greasy crusts were observed in the V zone of neck, fore chest, and back (Figures 1A-E).
Dermoscopic pictures (A,B). A large amount of dark reddish-brown blood and yellow callus-like substances were observed on the scalp and hair under dermoscopy.
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F2
Dermoscopy showed dark red and dark reddish-brown crust-like patches of different sizes and irregular shapes can be seen attached to the pink background, as well as a large number of yellow crust-like structures attached to the scalp and hair stem (Figures 2A,B).
Clinical pictures after treatment. (A) Three days after treatment; (B-D) the scalp was furrowed before discharge.
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F3
Approximately 0.1% tacrolimus and ketoconazole cream was given for facial area (Figure 3A). After removing the facial and hair scabs and haircut, we found the convoluted folds and deep furrows of the scalp that mimic cerebral sulci and gyri (Figures 3B-D).
PMC9374324_02
Clinical pictures of the patient's mother. (A) Several isolated keratinized papules were seen densely distributed on the face and neck of the patient's mother. (B) Longitudinal stripes and V-shaped defects were seen on the nails.
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F4
Dermatological examination showed that rough skin on face and neck, red and light brown erythema, and keratinizing papules could be observed, and dry silver-white scales could be seen on both ears; longitudinal stripes and V-shaped defects were seen on multiple nails (Figures 4A,B).
A heterozygous mutation c. 2962dup:p.R988Pfs *15 appeared in the ATP2A2 gene of the subject. This mutation was a duplication of the 2,962 base of cDNA, resulting in the change of the 988 codon from encoding arginine to encoding proline, and then, a stop codon was generated in advance.
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F5
Gene variation analysis was performed on the whole exome group and adjacent splice region of the family of the subject, it was found that the subject carried a heterozygous code shift variation on ATP2A2 gene, namely, c. 2962dup: p.R988Pfs *15 (Figure 5), and the results of first-generation sequencing showed that the mutation was reliable and inherited from the mother.
Family diagram of subjects.
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F6