CHILD - Syndrome

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: LD24.04

Entity described by

Happle 1980

Definition

Genetic dysplasia syndrome. CHILD stands for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects).

Epidemiology

Only female children affected, as male embryos die early.

Etiopathogenesis

X-linked dominant inheritance of the gene NSDHL, which codes for NAD(P)H steroid dehydro-genase-like protein. There is an enzyme defect in cholesterol metabolism.

Clinical features

Strictly ipsilateral ichthyosiform, scaly skin lesions. There could also be (ipsilateral) abnormalities in other organs (heart, lung, kidney, brain).

Diagnosis

Anamnesis

Clinic

Genetic analysis if necessary

Therapy

Topical retinoids.

Internal controls, if applicable.

References

Noguera-Morel L, Hernández-Ostiz S, Casas-Fernández L, Hernández-Martín A, Rodríguez-Blanco I, Requena L, Hotz A, Fischer J, Torrelo A. CHILD syndrome with minimal limb abnormalities. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e201-e202.