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- Title
A de novo, novel frameshift deletion in Conradi-Hünermann-Happle syndrome with ten-year follow-up from birth.
- Authors
Peng, Jui-Hui; Chen, Hui- Chun; Chao, Sheau- Chiou
- Abstract
A case study of a 7 hours old girl displaying ichthyosiform erythroderma on the trunk and limbs except for palms and soles. Topics include general erythroderma had abated, leaving ichthyosis in the linear patterns of Blaschko lines; and pattern of Blaschko lines upon a background of severe erythroderma, along with follicular atrophoderma and cicatricial alopecia on the scalp with other ocular symptoms.
- Subjects
MUSCULOSKELETAL system diseases; BALDNESS; PATIENT aftercare; TORSO; EXTREMITIES (Anatomy); SEX distribution; OSTEOCHONDRODYSPLASIAS; CHROMOSOME abnormalities; CONGENITAL ichthyosiform erythroderma; RARE diseases; EYE diseases; SYMPTOMS
- Publication
Indian Journal of Dermatology, 2022, Vol 67, Issue 5, p606
- ISSN
0019-5154
- Publication type
Case Study
- DOI
10.4103/ijd.ijd_203_21