Saturday, May 20, 2017

Recessive X-Linked Ichthyosis

The patient is a 65-year-old engineer who presents for evaluation of skin lesions.  He grew up in a Southern state and during high school and college worked summers doing roadwork.  He wants a screening for skin cancer. The patient has had a B-cell lymphoma 3-4 years ago. 

He has had a form of ichthyosis since about age 2.  Other family members are affected.  They are all on his mother’s side.  His mother’s brother and some male maternal cousins are similarly affected. He always felt like an outsider in his school, and was bullied in grade and high school because of this scaly skin.  This has informed his self-image as an adult.

EXAMINATION:  A complete skin examination was done. He has scaly polygonal, somewhat “dirty-appearing” plaques on the legs, torso, and arms.  He has normal palms.  Head and neck are normal.  He has no lesions that are worrisome for melanoma, nonmelanoma skin cancer, or actinic keratoses. 

Clinical Images:  

Polygonal Scale
Normal Palm in X-Linked Ichthyosis
IMPRESSION:  Recessiive X-linked ichthyosis.

PLAN:  We discussed his ichthyosis.  One can get free Aquaphor from the drug company and we will order some for him. 

I will run his case by some pediatric dermatology colleagues.  I do not know whether any further testing is needed for a 65-year-old man who is not going to have any children.  

Corneal opacities are relatively common in these patients and may be evident with slit-lamp examination both of adult males who are affected and of women who are carriers. Cryptorchidism has been reported in 20% of patients. A few cases of testicular cancer have developed in patients with X-linked ichthyosis and cryptorchidism.

FIRST: The Foundation for Ichthyosis and Related Skin Types is a great resource for patients and providers.  See FIRST’s page on Recessive X-Linked Ichthyosis.

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