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A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome

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Cited by (11)

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    Patients with each disease numbered 5 for Netherton syndrome, 3 for HI, 2 for Sjögren-Larsson syndrome, 1 for Dorfman-Chanarin syndrome, 1 for KID syndrome, and 1 for trichothiodystrophy. Causative genes were detected in all cases (100%), 5 of them being SPINK5 for patients with Netherton syndrome, 3 being ABCA12 for patients with HI, 2 being ALDH3A2 for patients with Sjögren-Larsson syndrome, 1 being GJB2 for a patient with KID syndrome, 1 being ABHD5 for a patient with Dorfman-Chanarin syndrome, and 1 being GTF2H5 for a patient with trichothiodystrophy (Table 1) [12–23]. All 13 (100%) were survivors.

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    Mild cognitive problems have been reported in a few surviving females, although intelligence is usually normal. Documented CNS malformations are present in only a small number of cases (≤10%) (258, 267). The most common abnormalities are hypoplasia of the involved side of the brain and/or cranial nerve involvement.

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    The CHILD syndrome presents with a striking unilateral erythema and scaling with a distinct demarcation in the midline trunk as well as limb hypoplasia, other skeletal hypoplasia, and visceral abnormalities on the ipsilateral side.194 Although the disease is caused by an X-linked mutation in NSDHL along with X-inactivation of the wild-type chromosome, it is not clear why the cutaneous findings of the disorder are lateralized rather than occurring in a classic lyonization pattern of bilateral linear lesions.195–201 Some have speculated that this occurs via the coincidence of an early clone of organizer cells with X-inactivation, and that these clones could determine a large developmental field (eg, all cells on one side of the body), thereby explaining the ipsilateral appearance of multiple organ abnormalities.202

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