Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia

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

“…Our patient had left‐sided involvement but her phenotype was so mild that mosaicism was initially suspected. The variation in clinical severity is marked when compared with two other patients with frameshift variants, who displayed more extensive phenotypes including skeletal abnormalities and areas of persistent erythroderma (Bornholdt et al, 2005; Estapé et al, 2015). Another patient carrying a missense variant in the same codon as our patient also showed classical symptoms of CHILD syndrome (Maceda et al, 2020).…”

“…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).…”

Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.

“…Spine deformities such as hemivertebrae and scoliosis have also been reported as part of the clinical spectrum of CHILD syndrome (Porter and Herman, 2011; Estapé et al , 2015). However, in our patient, the etiology of the scoliosis was attributed to postural changes secondary to limb length discrepancy.…”

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol

“…With exception, a bilateral, almost symmetric involvement may occur . Ipsilateral limb malformations can range slightly from hypoplasia of the phalanges to a complete absence of a limb . Female carriers may occasionally be found to be clinically healthy or minimal involvement by the reason of lyonization.…”

“…5 Ipsilateral limb malformations can range slightly from hypoplasia of the phalanges to a complete absence of a limb. 1,6 Female carriers may occasionally be found to be clinically healthy or minimal involvement by the reason of lyonization. Numerous sporadic occurrences may be familial cases when a DNA analysis is performed in those 'healthy' mothers.…”