Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome: a rare case without hemidysplasia and limb defects

Xu, Xue‐Gang; Zheng, Song Guo; Di, Zhenghong; Wan, Yinsheng; Gao, Xing‐Hua

doi:10.1111/ijd.14889

Cited by 2 publications

(1 citation statement)

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“…Although skin manifestations of CHILD syndrome are known to be restricted to one side of the body, bilateral presentations have been reported (Estapé et al, 2015; Fink‐Puches et al, 1997; Xu et al, 2020). Approximately two‐thirds of patients exhibited right‐sided involvement, with left‐sided involvement associated with a more severe phenotype or early death (Ramphul et al, 2021) (Hummel et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

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

Tan

Chia

Rafi'ee

et al. 2021

Molec Gen & Gen Med

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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.

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