PMC9452834_01
Clinical features of the patient (A,B) Congenital poikiloderma, including mottled pigmentation, telangiectasia, epidermal atrophy, sparse scalp hair, as well as absent eyelashes and eyebrows (C-F) The patient also had eczematous lesions on the trunk and legs.
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F1
A 5-year-old boy was admitted to the Shanghai Skin Disease Hospital outpatient department for developed blisters on the scalp, that were present 1 month after his birth, which gradually spread to the whole body and turned into poikiloderma after 3 months (Figure 1). The lesion was predominantly located on the face and in the other sun-exposed areas, which were typical manifestations for the diagnosis of congenital poikiloderma (Figures 1A,B). He had hypohidrosis and also eczematous lesions on the trunk and legs (Figures 1C-F).
Genomic DNA of the patient was analyzed using a gene probe consisting of 541 genetic loci of Geno dermatoses. Sequences were aligned to GRCh38. The c.1883G>A mutation in exon four exhibited a heterozygous point mutation in the patient, indicated by the black arrow, which was absent in his unaffected parents.
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F2
A heterozygous point mutation, c.1883G>A (rs587777238) in FAM111B was detected, leading to an amino acid alternation from serine to asparagine (p.628S > N) (Figure 2).