PMC10071509_01
The pedigree Gram of six Chinese Han pedigrees of isolated CALMs. The proband was marked with the arrow. Males were indicated by squares; Females were indicated by circles. Blackened symbols represented patients who had CALMs.
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F1
We have provided the pedigree Gram of the six families (Figure 1).
Clinical photographs. (A) The first proband: sporadic CALMs were observed in the patient's abdomen and back since she was born, which spread slowly to the anterior chest and face. (B) The second proband: CALMs were observed in the back and hip of the patient since he was born and then gradually spread to the face and neck. (C) The brother of the second proband: a pigmented spot with a size of 2 cm was observed on his back. (D) The father of the second proband: a pigmented spot with a size of 10 cm was observed on his left calf. (E) The mother of the second proband: several scattered pigmentated spots were observed on the back (F)The third proband: CALMs were observed on the patient's chest. (G) The fourth proband: CALMs were observed on the patient's armpit and back. (H) The fifth proband: CALMs were observed on the patient's thorax, back, and legs. (I) The sixth proband: CALMs were observed on the patient's armpit and back.
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F2
In the first family, the proband, a 7-year-old girl, has several typical CALMs (Figure 2A) and she is the second child of a healthy couple. In the second family, the proband, a 7-year-old male has several typical CALMs (Figure 2B) and he is the first child in the family. He has a 5-year-old brother, and his brother also had a pigmented spot on his back (Figure 2C). His father had a large pigmented spot on the left calf (Figure 2D), and his mother had several scattered pigmentated spots on the back (Figure 2E). In the third family, the proband, a female neonate has several typical CALMs (Figure 2F) and she is the first child in the family. In the fourth family, the proband, an 8-year-old boy has several typical CALMs (Figure 2G) and he is the only child of his parents. In the fifth family, the proband, a 9-year-old girl has several typical CALMs (Figure 2H) and she is the only child of her parents. In the sixth family, the proband, a 12-year-old boy has several typical CALMs (Figure 2I) and he is the only child of his parents.
Mutation screening. (A) Mutational analysis (next-generation sequencing and direct sequencing for proband) of NF1 in the first family using DNA sequence of exon 50 of NF1 gene from the proband, with an arrow showing [NC_000017.11(NM_001042492.2):c.7355G>A]. The sister and the mother of the first proband also identified the same mutation. (B) Mutational analysis of NF1 in the second family using DNA sequence of exon 21 of NF1 gene from the proband, with an arrow showing [NC_000017.11(NM_001042492.2):c.2739_2740del].(C) Mutational analysis of NF1 in the first, fourth, fifth, and sixth families using DNA sequence of exon 18 of NF1 gene from the proband, with an arrow showing [NC_000017.11(NM_001042492.2):c.2034G>A].(D) Mutational analysis of NF1 in the second family using DNA sequence of exon 7 of NF1 gene from the proband, with an arrow showing [NC_000017.11(NM_001042492.2):c.702G>A].
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F3
In the first family, sequencing of lymphocyte DNA identified [NC_000017.11(NM_001042492.2):c.7355G>A]in the NF1 gene (Figure 3A). In the second family, sequencing of lymphocyte DNA identified [NC_000017.11(NM_001042492.2):c.2739_2740del] (Figure 3B). The proband of the first, fourth, fifth, and sixth families identified [NC_000017.11(NM_001042492.2):c.2034G>A] (Figure 3C). The proband of the second family identified [NC_000017.11(NM_001042492.2):c.702G>A] (Figure 3D).
Dermoscopy pictures. (A) The dermoscopy picture of the first proband. (B) The dermoscopy picture of the second proband. (C) The dermoscopy picture of the third proband. (D) The dermoscopy picture of the fourth proband. (E) The dermoscopy pictures of the fifth proband. (F) The dermoscopy pictures of the sixth proband.
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F4
RCM pictures. (A) The RCM pictures of the first proband. (B) The RCM pictures of the second proband. (C) The RCM pictures of the fourth proband. (D) The RCM pictures of the fifth proband. (E) The RCM pictures of the sixth proband. The third proband did not have the RCM images due to the patient's parents refusal.
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F5