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IMF tumors are usually painless, well-encapsulated, rubbery to hard, and freely movable-to-fixed masses. [8] They may be evident at birth in up to 60% of cases [4] but generally go undetected until they [9] are diagnosed in the first year of life, [8] uncommonly in older infants and young (<10 years/old) children, [4] or rarely in older children and adults (one individual was diagnosed with ...
Diffuse infantile fibromatosis is a rare condition affecting infants during the first three years of life. This condition is a multicentric infiltration of muscle fibers with fibroblasts resembling those seen in aponeurotic fibromas, presenting as lesions and tumors confined usually to the muscles of the arms, neck, and shoulder area [1]: 607 Diffuse infantile fibromatosis is characterized by ...
Fibromatosis colli: benign sternocleidomastoid muscle tumor developing in infants within 8 weeks (average: 24 days) of delivery. It generally does not require resection and responds well to physiotherapy. [5] Dermatofibrosis lenticularis (Buschke–Ollendorff syndrome) Fibromatosis hyalinica multiplex (juvenile hyaline fibromatosis ...
In NF1, symptoms are often present at birth or develop before 10 years of age. [1] While the condition typically worsens with time, most people with NF1 have a normal life expectancy. [1] In NF2, symptoms may not become apparent until early adulthood. [1] NF2 increases the risk of early death. [1]
Infantile digital fibromatosis (IDF), also termed inclusion body fibromatosis or Reye's tumor, usually occurs as a single, small, asymptomatic, nodule in the dermis on a finger or toe [1] of infants and young children. [2] IMF is a rare disorder with approximately 200 cases reported in the medical literature as of 2021. [3]
Juvenile hyaline fibromatosis (also known as fibromatosis hyalinica multiplex juvenilis [2] and Murray–Puretic–Drescher syndrome [2]) is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene).
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CHR 15. Legius syndrome is a phakomatosis [8] and a RASopathy, a developmental syndrome due to germline mutations in genes. [7] [9] The condition is autosomal dominant in regards to inheritance and caused by mutations to the SPRED1 gene at chromosome 15, specifically 15q14 (or (GRCh38): 15:38,252,086-38,357,248).