A 31-year-old woman with dry skin and keratoses all over her body with loss of hair, eyebrows, and eyelashes, the doctor diagnosed with Keratitis-Ichthyosis-Deafness (KID) syndrome. The world has only recorded 100 cases so far.
She is the second child in a family of 4 siblings, her parents are not inbreeding and no one in her family has had similar symptoms. The disease started right after birth with membranes surrounding her body, then dry skin and scaly patches scattered all over her body.
Over time, the patient’s skin lesions become dry, some of the lesions become hyperkeratotic, gathering into large scaly patches on the top of the head, knees and lower legs. She had diffuse hair loss in the head area with sparse eyebrows and eyelashes. Yellow fingernails and toenails with some toes having hyperkeratosis under the toes. Patients have decreased sweating and mild mental retardation; Complete neurological deafness from birth leads to muteness and clouding of the cornea.
Doctor Nguyen Thi Thao Nhi, Department of Skin Disease Treatment for Women and Children, Central Dermatology Hospital, said that after a week of treating Keratitis-Ichthyosis-Deafness (KID) syndrome with medication, the patient’s skin was damaged. less dry, the keratinous patches on the head and lower legs peel off, leaving red, slippery skin.
Patients have yellow nail lesions and hyperkeratosis under the nails. Image: Hospital provided
KID syndrome was first described in 1915. To date, about 100 cases of this syndrome have been reported in the world medical literature. This is a rare genetic disorder that causes skin abnormalities, eye abnormalities, and hearing loss.
Skin abnormalities include palmoplantar keratosis, cutaneous hyperkeratosis, nail dystrophy, hair loss, and ichthyosis on the skin. Eye problems characterized by keratitis with corneal neovascularization can cause pain, light sensitivity, and in severe cases, blindness. Symptoms of the disease may begin to appear in infants and gradually increase with age.
Cases of KID syndrome are mostly sporadic, world medical literature records both recessive and dominant inheritance. The disease is genetically heterogeneous, caused by point mutations in the GJB2 gene encoding bridging protein 26, concentrated in chromosome 13q12.
Treatments for KID syndrome include keratolytic drugs and topical skin moisturizers. In some cases, it is necessary to prescribe retinoids, antibiotics and antifungal drugs. Lubricating and anti-inflammatory agents may be used to reduce eye symptoms. Some cases received cochlear implants to restore hearing.