Paula and Bobby
Parents of Lillie
Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma
What is Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma?
Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma is a rare disease. It is also known as Rosenthal-kloepfer Syndrome.
This condition has also been called "familial pachydermoperiostosis presenting as an acromegaly-like syndrome " by Harbison and Nice (1971). Onset might be in the 2nd decade with bilateral corneal leukomas, enlarging of the hands, and coarsening of the features. The skin of the forehead and scalp is furrowed as in cutis verticis gyrata. X-rays often show markedly enlarged frontal and sphenoid sinuses, and in the hands the proximal and middle phalanges are large and square. The sella is normal and increased endochondrial bone formation is not seen. The inheritance pattern is probably dominant, with reduced penetrance.
O'Reilly et al., (1997) reported a 60-year-old man with cutis verticis gyrata associated with a benign chromophobe adenoma of the pituitary. A similar case was reported by Abu-Jamara et al., (1966).
* This information is courtesy of the L M D.
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What gene changes cause Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 102100 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma?
The typical symptoms of the syndrome are:
Autosomal dominant inheritance, Soft skin, Abnormality of the eye, Cutis gyrata of scalp, Mandibular prognathia, Large hands, Tall stature, Periostosis
How does someone get tested for Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma?
The initial testing for Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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