Rosenthal–Kloepfer syndrome

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Rosenthal–Kloepfer syndrome, also known as familial pachydermoperiostosis, is a cutaneous condition characterized by abnormal growth of bone and skin, coupled with clouding of the cornea.[1] It was described in 1962.[2] Another name for the condition is Acromegaly-cutis verticis gyrata-corneal leukoma syndrome.

Signs and Symptoms[edit]

Presenting symptoms include unilateral or bilateral opacification of the cornea, which progressively involves the whole structure. Visual disturbance secondary to corneal opacification is often the presenting symptom. Other symptoms include furrowing of the scalp, enlargement of the bony portion of the eyebrows, and disproportionately large hands.[3]

Cause[edit]

No gene mutation as has been associated with this disorder. Inheritance follows an autosomal dominant pattern.

Diagnosis[edit]

Radiographic imaging reveals thickening of bones, especially of the skull, and widening of the bones in the fingers.[4]

See also[edit]

References[edit]

  1. ^ "Rosenthal-Kloepfer Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2018-02-27.
  2. ^ ROSENTHAL JW, KLOEPFER HW (December 1962). "An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome. A new medical entity". Arch. Ophthalmol. 68: 722–6. doi:10.1001/archopht.1962.00960030726004. PMID 13974983. Archived from the original on 2012-03-06.
  3. ^ "Rosenthal-Kloepfer Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2018-02-27.
  4. ^ "Rosenthal-Kloepfer Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2018-02-27.

External links[edit]

Classification
External resources