PMC8452451_01
The picture of the presented 8-year-old patient. Note. Multiple brownish-black "dots" are discretely distributed on the patient's face and upper trunk.
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An 8-year-old female patient visited Ho Chi Minh City Hospital of Dermato-Venereology because of several brownish-black "dots" on her face and body (Figure 1).
Lentigines distribution on the patient's extremities.
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The macules were discretely spread across the child's face, chest, back, upper and lower extremities, and palms and soles (Figures 2 and 3). Pectus carinatum (protruding chest) (Figures 2 and 6), scoliosis, and scapula alata (Figure 4) were observed.
The distribution of the lentigines on the patient's trunk on further physical examination.
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The macules were discretely spread across the child's face, chest, back, upper and lower extremities, and palms and soles (Figures 2 and 3).
Cafe-au-lait macules along with lentigines. Note. Scoliosis and protruding shoulder blade from the back (scapula alata) can be seen easily from this aspect.
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Cafe-au-lait macules of size 2 x 3 cm2 were observed on the back (Figure 4). Pectus carinatum (protruding chest) (Figures 2 and 6), scoliosis, and scapula alata (Figure 4) were observed.
The facial characteristics of the patient. Note. Along with lentigines, a flat nasal bridge, hypertelorism, and abnormal dental development are present.
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Distinct facial features included hypertelorism, a flat nasal bridge, and prognathism (protruding lower jaw) (Figures 5 and 6).
The lateral aspect shows a protruding lower jaw (prognathism), a flat nasal bridge, and low-set ear. A part of the protruding chest (pectus carinatum) is also seen.
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Distinct facial features included hypertelorism, a flat nasal bridge, and prognathism (protruding lower jaw) (Figures 5 and 6). Dental arch discrepancies, diastema, and hypodontia were also noted (Figure 6). Pectus carinatum (protruding chest) (Figures 2 and 6), scoliosis, and scapula alata (Figure 4) were observed.
Genetic analysis of the PTPN11 gene. The analysis was performed using the ABI 3500 genetic analyzer system. The results show a heterozygous mutation on exon 7 of the aforementioned gene.
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Genetic analysis revealed a PTPN11 gene mutation (c.836A > G, p.Tyr279Cys) (Figure 7).