BackgroundScientists have previously described an overgrowth syndrome in Saudi patients and named it ‘Upper limb muscle overgrowth with hypoplasia of the index finger’ syndrome.Case presentationWe describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the affected muscles. A wider classification of ‘PIK3CA-related pathology spectrum’ is presented which includes cancer, benign skin lesions/tumors, Cowden syndrome, isolated vascular malformations and various overgrowth syndromes. The latter entity is sub-divided into 3 sub-groups: overgrowth with brain involvement, overgrowth with multiple lipomatosis, and overgrowth without brain involvement/multiple lipomatosis.ConclusionOur literature review indicated that “upper limb muscle overgrowth with hypoplasia of the index finger” is not as rare as previously thought to be. This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.
Bacillary angiomatosis is a rare opportunistic infection caused by the gram-negative bacteria Bartonella. The infection is strongly related to human immunodeficiency virus (HIV) infection, and hence, the diagnosis is usually considered based on the fact that the patient is HIV positive. We report on a case of bacillary angiomatosis presenting as a pyogenic granuloma of the hand in an otherwise apparently healthy man. The report is aimed to increase the awareness of hand surgeons that this serious disease may be the first clinical manifestation of HIV infection. The case also demonstrates that once the correct diagnosis is made, medical treatment alone may be sufficient to cure massive recurrent lesions.
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