A case of familial incontinentia pigmenti in infancy without hyperpigmented stage.

FIGURE 1 Clinical presentations of the patient with incontinentia pigmenti and her mother, and the sequencing chromatogram of the family. (A–E) Clinical presentations of the proband. (A) Erythema on the scalp and (B) Linear erythemas on the groin at birth; (C) Alopecia and (D) Hypopigmentation along Blaschko’s lines on the trunk at 6 months old; (E) Facial hypopigmentation. (F, G) Clinical presentations of the mother. (F) Milder hypopigmentation on the trunk and (G) alopecia. (H) A heterozygous variant c.388C>T (p. Arg130Ter) in exon 2 of IKBKG in the patient. (I) The suspected mosaic variant in her mother. (J) Part of the normal sequence from exon 2 of the IKBKG gene of the patient’s maternal grandmother and (K) grandfather. Red arrows indicate the pathogenic variants and black arrows indicate the normal site.