Rosenthal–Kloepfer syndrome
Rosenthal–Kloepfer syndrome | |
---|---|
Other names | Familial pachydermoperiostosis |
Specialty | Dermatology |
Rosenthal–Kloepfer syndrome, 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
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
No
autosomal dominant pattern.[citation needed
]
Diagnosis
bones in the fingers.[4]
See also
- Amniotic band syndrome
- List of cutaneous conditions
References
- ^ "Rosenthal-Kloepfer Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2018-02-27.
- PMID 13974983. Archived from the originalon 2012-03-06.
- ^ "Rosenthal-Kloepfer Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2018-02-27.
- ^ "Rosenthal-Kloepfer Syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2018-02-27.