口唇部腫瘍切除を行ったヒアリン線維腫症候群の1例

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  • A case of hyaline fibromatosis syndrome with lip tumor resection

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Hyaline fibromatosis syndrome （HFS） is a very rare autosomal recessive disease with progressive course, characterized by multiple subcutaneous nodules, dermal pigmentation, gingival hypertrophy, joint contracture of varying degree, malabsorption due to villous atrophy and so on. The severity is variable and there is no curative treatment for this disease. Some children with the severe form die in early childhood. The gene responsible for the disease is homozygous or compound heterozygous mutations of capillary morphogenesis gene 2 （CMG2）, also known as anthrax toxin receptor 2 （ANTXR2）.<br>We report a case of HFS of a 1-year-old girl with compound heterozygous mutations of CMG2. She had subcutaneous nodules on the scalp, face, chest, back and perianal skin. She also had lip and soft palate tumors, gingival hypertrophy and contracture of the shoulders, hips, knees and ankles. We resected the tumors at the age of 2 years and 4 months old because the tumors of the lips were increasing. Esthetic and functional improvements were found for more than one year after surgery. But, 18 months later, the lower lip tumor had regrown, and the tumors at other sites are also increasing gradually in number and size. We are still continuing close follow-up.

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