Open AccessA novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
Author(s) -
Tan EneChoo,
Chia Shi Yun,
Rafi’ee Khadijah,
Lee Shan Xian,
Kwek Andrew Boon Eu,
Tan Sze Hwa,
Ng Victor Weng Leong,
Wei Heming,
Koo Stephanie,
Koh Ai Ling,
Koh Mark JeanAan
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1848
Subject(s) - frameshift mutation , medicine , pathological , dermatology , congenital disorder , trunk , pathology , genetics , mutation , gene , biology , surgery , ecology
Background 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. Methods and Results 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 a frameshift variant in NSDHL . The novel variant was inherited from her mother who had some linear hypopigmented patches over the medial aspects of both her arms and right forearm. Conclusion We uncovered a novel frameshift variant associated with presentations that cast a new light on the clinical features of CHILD syndrome.