case_images: PMC9428628_01
case_images: (A) Pedigree of the family showing autosomal recessive inheritance. The red arrow represents the index (II-1). (B) Scalp of the patient (II-1) showing unruly hair with diffuse non-scarring alopecia. (C) The dorsum of the fourth finger of the patient shows an intact blister. (D) Multiple tiny follicular papules were observed on the patient's leg. (E) Postinflammatory hyperpigmented macules on the dorsum of the patient's left foot (sites of previous blisters). (F) Skin biopsy from edge of a bulla on dorsum of foot showing the epidermis with increase in the spaces between keratinocytes. (G-L) Sanger sequencing electrograms showing bi-allelic wild, bi-allelic affected and heterozygous carrier. (M) Showing conservation of [Val52] amino acid across several species.
case_images: fgene-13-994509-g001.jpg
case_images: PMC9428628_01_fgene-13-994509-g001.jpg
case_images: F1
case_images: The parents are consanguineous (first-degree cousins), and no family history of such disorder has been reported (Figure 1A). Eyelashes and brows were absent until he was 3 years old, when he began to grow a sparse eyelashes and brows but still experienced hair loss. (Figure 1B); otherwise, the boy was healthy. Skin examination revealed a single bulla over the dorsum of the fourth finger of the left hand (Figure 1C) and post inflammatory hyperpigmented macules on the dorsum of the patient's left foot (sites of previous blisters) (Figures 1D,E). Scalp examination revealed unruly hair with diffuse nonscarring alopecia (Figure 1B). A skin biopsy was taken from the blister, which showed an intraepidermal blister (Figure 1F).