A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

ABSTRACT: CHILD syndrome is an X-linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs. Milder and less extensive presentations have been reported, leading to misdiagnosis especially during early childhood. We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only diagnosed in adulthood when she presented with gastrointestinal symptoms and worsening of skin manifestations. The clinical diagnosis was suspected after a combination of clinical, pathological and immunohistochemistry correlation, and molecularly confirmed with the discovery of

SUBMITTER: Tan EC 

PROVIDER: S-EPMC8801147 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature