Ichthyosis follicularis with atrichia and photophobia syndrome: the first case in China
- VernacularTitle:国内首报毛囊鱼鳞病、秃发、畏光综合征一例
- Author:
Zhirong YAO
;
Aifang JIANG
;
Jianying LIANG
- Publication Type:Journal Article
- Keywords:
Ichthyosis;
AIopocia;
Photophobia;
Syndrome
- From:
Chinese Journal of Dermatology
2008;41(10):644-646
- CountryChina
- Language:Chinese
-
Abstract:
The patient is an 11-year old boy, who was born with universe alopecia as well as dry and coarse skin. When he was 3 months old, photophobia was noticed, and since then, upper respiratory tract infection had occurred twice a month complicated by frequent diarrhea. He had short stature with slight conjunc- rival congestion, corneal vascularization, opacity, coarseness and poor vision. No abnormality was found in the teeth, sweating ability, or hearing. He had universal alopecia; his skin was dry and rough with generalized rhombus- or polygon-shaped scaly patches. Particularly thick brown scales were observed on the upper limbs. Moreover, there were spiny follicular papules on the abdomen and axillae, hyperkeratosis of palm and sole, and dystrophic nails. Hyperextensibility of proximal interphalangeal joints of the third, fourth and fifth fingers was noticed. He also suffered from mental retardation, the verbal intelligence quotient being 52, performance intelligence quotient lower than 40, full intelligence quotient lower than 40, but no abnormality was found in the heart, lung, liver or spleen. Histopathology of skin on the abdomen suggested a change characteristic of ichthyosis. Chromosome analysis revealed a karyotype of 46, XY. This is the first diagnosed case of ichthyosis follicularis with atrichia and photophobia syndrome in China.
