Rachit HARJAİ, Sushil Ghanshyam KACHEWAR

Yetişkin Bir Hintli Erkekte Progresif Ossifikan Fibrodisplazi

İlk olarak 1692 yılında Guy Patin tarafından kadınları ahşaba dönüştüren hastalık olarak tanımlanmasını takiben Progresif Ossifikan Fibrodisplazi, bir çok kitapta genelde olarak düşük bir profil muhafaza etmiş ve nadiren bu durum tarafından etkilenen yaşayan bireylere rastlanmıştır. Bu ölümcül hastalığın işaretleri sadece büyük ayak baş parmağının kısalığı ve yumuşak dokuların engellenemeyen progresif kemikleşmesidir. Sporadik oluşuma sahip olabilir, hatta otozomal dominant pattern yoluyla kalıtılabilir ve geniş bir ifade yelpazesine sahip olabilir. Yanlış bir klinik tanı hastayı gereksiz cerrahi eksizyona ve hatta zararlı radyoterapiye maruz bırakır. Yetişkin Hintli erkeklerdeki Progresif Ossifikan Fibrodisplazi vakasına bağlı durum, herkesin yararı için burada rapor edilmiştir.

Anahtar Kelimeler:

Münchmeyer hastalığı, Progresif Ossifikan Fibrodisplazi, Kalsifikasyonlar, Kısa, büyük ayak baş parmağı, Paraspinal kemikleşme, Mikrodaktili; Simfalangizm

Fibrodysplasia Ossificans Progressiva in an Adult Indian Male

Following its first description by Guy Patin in 1692 as a disease that turned a woman into wood, Fibrodysplasia Ossificans Progressiva has maintained its low profile that too mainly in textbooks and rarely does one encounter a live walking individual affected by this entity. The hallmarks of this deadly disease are the short size of only the big toes and uninhibited progressive ossification of soft tissues. It can have a sporadic occurrence or may even be inherited through autosomal dominant pattern and has a wide range of expression. A wrong clinical diagnosis exposes the patient to unnecessary surgical excision and even harmful radiotherapy.Hence a case of Fibrodysplasia Ossificans Progressiva in an adult Indian male is being reported here for the benefit of one and all.

Keywords:

'Munchmeyer's disease'; Fibrodysplasia Ossificans Progressiva; Calcifications; Short Big toes; Paraspinal ossification; Microdactyly; Synphalangism.,

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YazışmaAdresi / Address for Correspondence: Dr. Rachit Harjai Mahatma Gandhi Medical College and Hospital, i Jaipur, INDIA Email: radsgk@gmail.com. G eliştarihi/Received on : 06.01.2014
Kabul tarihi/Accepted on: 14.02.2014