rare diseases

A Collection of Rare Diseases

  • February 28 is Rare Disease Day all over the world. In recognition of this initiative to raise awareness, this slideshow features presentations of various rare diseases. Each slide links to the full case report for more details.

  • Cleidocranial Dysplasia

    The neonate had frontal bossing, low-set ears, wide-spaced fontanelles with a connection between the anterior and the posterior fontanelle, small skull bones, increased nuchal thickness, lip ankyloglossia, and bone nodules on the upper maxillary dental ridge.

    Read the full case report here. 
  • Lymphomatoid Granulomatosis

    A 33-year-old man with a history of Holt-Oram syndrome presented to the clinic with a 10.2 × 7.6-cm necrotic nasal lesion with associated 2.5-cm dome-shaped nodules with central ulceration scattered on his upper extremities, back, torso, and upper thighs.

    Read the full case report here.
  • Fox-Fordyce Disease

    A well-appearing young woman with an unremarkable medical history presented with a 6-month history of an intensely pruritic eruption affecting the axillae, areolae, and genital region. Initially, allergic contact dermatitis had been diagnosed. She had been prescribed a lidocaine/prilocaine cream and clobetasol ointment, which had failed to control the pruritus or the rash.

    Read the full case report here.
  • Osteomyelitis

    An 18-year-old boy with a long history of subjective fevers associated with recurrent right knee pain and swelling presented for a second opinion. At age 12 years, his symptoms were attributed to osteomyelitis of the right medial femoral condyle. Despite negative bone culture results, he received a 4-week antibiotic course. Right knee pain recurred 5 years later, and bone cultures were again negative for infection. The boy was treated with intravenous antibiotics for presumed osteomyelitis. 

    Read the full case report here.
  • Wilson Disease

    A 32-year-old man had received a diagnosis of type 2 diabetes 6 months before he presented with pain and swelling of his right lower extremity. A review of systems revealed a 3-month history of intention tremors, dysphagia, hypophonia, sialorrhea, and progressive micrographia. Of note, the patient’s second-degree relative has Wilson disease.

    Read the full case report here.
  • Sacrococcygeal Teratoma

    A 4-year-old girl presented with a swelling in her back since birth. Her mother reported that the mass had been growing at a slow pace and was not associated with any pain or weakness of the lower extremities. 

    The girl’s developmental milestones were normal, and she had normal bladder and bowel control. Her medical history was otherwise noncontributory. Physical examination findings were unremarkable except for the swelling. 

    Read the full case report here.
  • Jejunal Atresia

    An infant girl was delivered full-term at gestational age by normal spontaneous vaginal delivery to a 34-year-old gravida 2, para 1 mother. The amniotic fluid appeared to be meconium-stained. The infant cried immediately after birth and had Apgar scores of 9 and 9 after 1 and 5 minutes, respectively. The infant’s abdomen was soft but distended.

    Read the full case report here.
  • Acromegaly

    A 36-year-old woman presented to the emergency department with loss of vision in the right eye that had initially involved the peripheral field and progressed over 2 months to the central and nasal fields. During this period, she also had headaches, vomiting, and generalized weakness. She had had amenorrhea for 1 year. She took acetaminophen and NSAIDs as needed for the headaches. She had not seen a physician in more than 5 years.

    Read the full case report here.