Keratomalacia

Keratomalacia is a rare genetic disorder characterized by skin lesions (keratinization) in various parts of the body. The most common form of keratomalacia affects the face, hands, feet and legs. Other forms include: eye problems; hair loss; joint pain; and other health issues.

The disease can affect any age group but it is more prevalent among children than adults. There are two main types of keratomalacia:

Type I – Type I keratosis congenita (TC) is caused by mutations in the gene TYRP1. TC occurs when one or both copies of the TYRP1 gene are deleted. The resulting condition results from a single mutation in either the coding region or exon 1 of TYRP1 causing premature termination of transcription at codons 15 and 17. These mutations result in incompletely processed proteins with abnormal amino acid sequences.

Type II – Type 2 keratosesis (T2K) is caused by mutations in the genes TYR and KIT. T2K occurs when one or both copies of the TYRP and/or KIT genes are mutated. These mutations cause premature termination of transcription at codons 12, 13, 14, 16, 18 and 19. Mutations in these genes may lead to defects in collagen synthesis which leads to soft tissue damage.

Symptoms of keratomalacia

Signs and symptoms of the disease include: premature aging, skin lesions, which appear as dry, scaly patches or bumps on your skin (a condition called hyperkeratosis), difficulty seeing in bright light (a condition called photophobia), eye pain and a general feeling of sickness.

Other symptoms include: excessive hair loss (alopecia), bone problems and hearing loss.

Keratomalacia treatment

There is currently no known cure for keratomalacia. However, there are a number of treatment options that your doctor may recommend to alleviate the symptoms of the disease:

1. Sunscreen – To protect your skin from the sun’s harmful rays.

2. Bright lights – Wearing protective glasses when entering bright lights may help prevent eye pain.

3. Pain medication – To relieve pain and reduce inflammation.

4. Anti-inflammatory drugs – To reduce pain and swelling.

5. Vitamin A supplements – Increase your intake of vitamin A to help relieve pain caused by the disease.

6. Antibiotics – Taken to treat or prevent an infection in your skin.

The above are just some of the treatment options that are available for this condition. Consult your doctor to learn more about the treatment options available for you.

Sources & references used in this article:

Nutritional blindness. Xerophthalmia and keratomalacia. by A Sommer – 1982 – cabdirect.org

Keratomalacia by RS Smith, T Farrell, T Bailey – Survey of ophthalmology, 1975 – Elsevier

Nutritional factors in corneal xerophthalmia and keratomalacia by A Sommer – Archives of ophthalmology, 1982 – jamanetwork.com

Corneal xerophthalmia and keratomalacia by A Sommer, T Sugana – Archives of Ophthalmology, 1982 – jamanetwork.com

Xerophthalmia, keratomalacia and nutritional blindness by A Sommer – International ophthalmology, 1990 – Springer

Report of a fatal case of keratomalacia in an infant, with postmortem examination by JR Wilson, RO DuBois – American Journal of Diseases of …, 1923 – jamanetwork.com

Equine amniotic membrane transplantation for corneal ulceration and keratomalacia in three horses by ME Lassaline, DE Brooks, FJ Ollivier… – Veterinary …, 2005 – Wiley Online Library