Von Recklinghausen Syndrome I think ! The Neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood. They can be confused with the following syndromes:- LEOPARD syndrome Legius syndrome Proteus Syndrome
I made missdiagnosis according to the site here . I should have thought of Benign symmetric lipomatosis (also known as Benign symmetric lipomatosis of Launois–Bensaude, Madelung's disease,multiple symmetric lipomatosis and cephalothoracic lipodystrophy) is a cutaneous condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area. Named after German surgeon Otto Wilhelm Madelung who was the first to give a detailed description of it, the condition is very rare with an estimated incidence rate of 1 in 25,000 and affecting males up to 30 times more frequently than females.The etiology of the disease remains unknown, but there is a strong correlation with alcohol abuse as abstinence from alcohol prevents progression of the disease. Defects in the adrenergic stimulated lipolysis and accumulation of embryological brown fat has also been reported. Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a 'pseudoathletic appearance'. This resembles the Italian statue "Capestrano Warrior" and carvings of "Queen of Punt" (Egypt).Traditionally the treatment is mainly surgical consisting of the removal of the lipomas, although recent study has proposed liposuction and phosphatidylcholine injection as possible alternatives.